diff --git a/examples/CA/003_CA_ORU_R01_CDPH_produced.hl7 b/examples/CA/003_CA_ORU_R01_CDPH_produced.hl7 index 069f06d32..c044c3a84 100644 --- a/examples/CA/003_CA_ORU_R01_CDPH_produced.hl7 +++ b/examples/CA/003_CA_ORU_R01_CDPH_produced.hl7 @@ -1 +1,173 @@ -MSH|^~\&|SISGDSP|SISGDSP|SISHIERECEIVER^11903029^L,M,N|^^L,M,N|20240212103049||ORU^R01^ORU_R01|243408787|T|2.5.1 PID|1||80008715^^^&NPI^MR||CDPH-FOUR^GIRL A MOMFOUR^^^^^B|||F||2076-8^Native Hawaiian or Other Pacific Islander||||||||||||2186-5^Not Hispanic or Latino||Y|1 NK1|1|CDPH-FOUR^MOMFOUR|MTH^Mother|123 TOWNE-CENTER DRIVE^^SAN-DIEGO^CA^92126^USA|^^^^^619^1231234|^^^^^858^2493690 ORC|RE|7171232842^FormNumber||189403712^HospOrdNumber||||||||^WILKINSON^LESLEY|||||||||UCSD JACOBS MEDICAL CENTER^^^^^^^^^R797| 2961DR YLLUT^^SAN DIEGO^CA^99999-9999 OBR|1|7171232842^FormNumber||54089-8^NB Screen Panel Patient AHIC|||202402081450|||||||||^MILLEN^MARLENE||||||20240212103049|||F OBR|2|7171232842^FormNumber||57128-1^Newborn Screening Report summary panel|||202402081450|||||||||^MILLEN^MARLENE||||||20240212103049|||F OBX|1|CE|57721-3^Reason for lab test in Dried blood spot^LN|1|LA12421-6^Initial screen^LN|||N|||F|||20240212103049 OBX|2|CE|57718-9^Sample quality of Dried blood spot^LN|1|LA12432-3^Acceptable^LN|||N|||F|||20240212103049 OBX|3|CE|57130-7^Newborn screening report - overall interpretation^LN|1|LA12428-1^All screening is in range for the conditions tested^LN|||N|||F|||20240212103049 OBX|4|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20240212103049 OBX|5|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20240212103049 OBX|6|TX|57724-7^Newborn screening short narrative summary^LN|1|ACTION REQUIRED\.br\\.br\NBS Testing Lab - COMMUNITY REG MEDICAL CENTER LAB \R\M 57752YWKP NAEBC, ETS8021 , FRESNO, CA 99999\.br\\.br\Genetic Disease Laboratory - GDL SAW 19221DVLB NOTGNIH, RICHMOND, CA 99999-9999\.br\\.br\Lab Director - Genetic Disease Laboratory, (510) 231-1790\.br\\.br\Follow-up:\.br\\.br\Amino Acid Panel: There was insufficient data to determine whether or not this newborn was at least 12 hours old when this specimen was collected. Testing of amino acids at less than 12 hours of age is not reliable for detecting certain metabolic disorder. \.br\\.br\If you have any questions regarding these screening outcomes, please contact the Newborn Screening Staff at Rady Children's Hospital San Diego at (161) 122-8708. \.br\\.br\Methods and Limitations:\.br\\.br\Assays for ALD Tier-1, BD, CAH, CF, GAL, MS/MS Acylcarnitine and Amino Acid Panels, PCH, hemoglobinopathies, and SCID were performed at the testing laboratory specified on the front of this report. Assays for ALD Tier-2, CAH Tier-2, Pompe Disease Tier-1, MPS I Tier-1, and SMA were developed and/or optimized by the Genetic Disease Laboratory (GDL), and performed at GDL. Performance characteristics of these assays are determined by GDL. The SMA assay is designed to identify 95% of SMA patients who have homozygous deletions of the SMN1 gene on chromosome 5q. These assays have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. The assays are used for clinical purposes. They should not be regarded as investigational or for research. GDL is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) to perform high complexity genetic disease screening. \.br\Attention Healthcare Provider:\.br\\.br\Due to biological variability of newborns and differences in detection rates for the various disorders in the newborn period, the Newborn Screening Program will not identify all newborns with these conditions. While a positive screening result identifies newborns at an increased risk to justify a diagnostic work-up, a negative screening result does not rule out the possibility of a disorder. Health care providers should remain watchful for any sign or symptoms of these disorders in their patients. A newborn screening result should not be considered diagnostic, and cannot replace the individualized evaluation and diagnosis of an infant by a well-trained, knowledgeable health care provider. \.br\\.br\|||N|||F|||20240212103049 OBX|7|TX|57129-9^Full newborn screening summary report for display or printing^LN|1||||N|||F|||20240212103049 OBX|8|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|1|LA22279-6^SMA^LN|||N|||F|||20240212103049 OBX|9|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|2|LA25796-6^X-ALD^LN|||N|||F|||20240212103049 OBX|10|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|3|LA14037-8^GAA^LN|||N|||F|||20240212103049 OBX|11|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|4|LA25797-4^MPS-I^LN|||N|||F|||20240212103049 OBX|12|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|5|LA12466-1^3-MCC^LN|||N|||F|||20240212103049 OBX|13|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|6|LA12468-7^3MGA^LN|||N|||F|||20240212103049 OBX|14|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|7|LA12469-5^5-OXO^LN|||N|||F|||20240212103049 OBX|15|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|8|LA12470-3^ARG^LN|||N|||F|||20240212103049 OBX|16|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|9|LA12482-8^CIT-I^LN|||N|||F|||20240212103049 OBX|17|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|10|LA12483-6^CIT-II^LN|||N|||F|||20240212103049 OBX|18|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|11|LA12485-1^CPT-Ia^LN|||N|||F|||20240212103049 OBX|19|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|12|LA12486-9^CPT-II^LN|||N|||F|||20240212103049 OBX|20|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|13|LA12493-5^GA-1^LN|||N|||F|||20240212103049 OBX|21|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|14|LA12495-0^GA-2^LN|||N|||F|||20240212103049 OBX|22|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|15|LA12497-6^HHH^LN|||N|||F|||20240212103049 OBX|23|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|16|LA12499-2^HMG^LN|||N|||F|||20240212103049 OBX|24|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|17|LA12505-6^IVA^LN|||N|||F|||20240212103049 OBX|25|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|18|LA12507-2^LCHAD^LN|||N|||F|||20240212103049 OBX|26|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|19|LA12508-0^MAL^LN|||N|||F|||20240212103049 OBX|27|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|20|LA12509-8^MCAD^LN|||N|||F|||20240212103049 OBX|28|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|21|LA12510-6^MCD^LN|||N|||F|||20240212103049 OBX|29|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|22|LA12512-2^MET^LN|||N|||F|||20240212103049 OBX|30|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|23|LA12513-0^MSUD^LN|||N|||F|||20240212103049 OBX|31|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|24|LA12516-3^NKHG^LN|||N|||F|||20240212103049 OBX|32|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|25|LA12520-5^PKU^LN|||N|||F|||20240212103049 OBX|33|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|26|LA12521-3^PRO I^LN|||N|||F|||20240212103049 OBX|34|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|27|LA12528-8^TYR-1^LN|||N|||F|||20240212103049 OBX|35|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|28|LA12529-6^TYR-II^LN|||N|||F|||20240212103049 OBX|36|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|29|LA12531-2^VLCAD^LN|||N|||F|||20240212103049 OBX|37|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|30|LA12532-0^BIO^LN|||N|||F|||20240212103049 OBX|38|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|31|LA12533-8^CAH^LN|||N|||F|||20240212103049 OBX|39|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|32|LA12537-9^CF^LN|||N|||F|||20240212103049 OBX|40|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|33|LA12543-7^GALT^LN|||N|||F|||20240212103049 OBX|41|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|34|LA12566-8^SCID^LN|||N|||F|||20240212103049 OBX|42|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|35|LA12576-7^SCAD or EMA or IBG or GA-2 (MADD)^LN|||N|||F|||20240212103049 OBX|43|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|36|LA16207-5^Hemoglobinopathies^LN|||N|||F|||20240212103049 OBX|44|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|37|99717-3^Hypothyroidism^L|||N|||F|||20240212103049 OBX|45|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|38|LA12487-7^CUD^LN|||N|||F|||20240212103049 OBX|46|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|39|LA12474-5^BKT^LN|||N|||F|||20240212103049 OBX|47|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|40|LA12523-9^PA^LN|||N|||F|||20240212103049 OBX|48|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|41|LA12515-5^MMA^LN|||N|||F|||20240212103049 OBX|49|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|42|LA12464-6^2M3HBA^LN|||N|||F|||20240212103049 OBR|3|7171232842^FormNumber||57717-1^Newborn screen card data panel|||202402081450|||||||||^MILLEN^MARLENE||||||20240212103049|||F OBX|1|ST|57716-3^State printed on filter paper card [Identifier] in NBS card^LN|1|CA|||N|||F|||20240212103049 OBX|2|NM|8339-4^Birthweight^LN|1|3175|grams||N|||F|||20240212103049 OBX|3|CE|57722-1^Birth plurality of Pregnancy^LN|1|LA12411-7^Singleton^LN|||N|||F|||20240212103049 OBX|4|CE|57713-0^Infant NICU factors that affect newborn screening interpretation^LN|1|LA137-2^None^LN|||N|||F|||20240212103049 OBX|5|CE|67704-7^Feeding types^LN|1|LA16914-6^Breast milk^LN|||N|||F|||20240212103049 OBX|6|TX|^^^99717-5^Accession Number^L|1|040-70-677/21-2024-21|||N|||F|||20240212103049 OBX|7|TX|62324-9^Post-discharge provider name^LN|1|LESLEY WILKINSON|||N|||F|||20240212103049 OBX|8|TX|62327-2^Post-discharge provider practice address^LN|1|2961DR YLLUT SAN DIEGO CA 99999-9999 USA|||N|||F|||20240212103049 OBR|4|7171232842^FormNumber||57794-0^Newborn screening test results panel in Dried blood spot|||202402081450|||||||||^MILLEN^MARLENE||||||20240212103049|||F OBR|5|7171232842^FormNumber||53261-4^Amino acid newborn screen panel|||202402081450|||||||||^MILLEN^MARLENE||||||20240212103049|||F OBX|1|NM|47633-3^Glycine [Moles/volume] in Dried blood spot^LN|1|0.5|µmol/L||N|||F|||20240212103049 OBX|2|NM|53150-9^Alanine+Beta Alanine+Sarcosine [Moles/volume] in Dried blood spot^LN|1|500|µmol/L|<1000|N|||F|||20240212103049 OBX|3|NM|47799-2^Valine [Moles/volume] in Dried blood spot^LN|1|0.5|µmol/L||N|||F|||20240212103049 OBX|4|NM|53151-7^Valine/Phenylalanine [Molar ratio] in Dried blood spot^LN|1|0.00645|{Ratio}|<4.3|N|||F|||20240212103049 OBX|5|NM|53152-5^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline^LN|1|125|µmol/L|<230|N|||F|||20240212103049 OBX|6|NM|53154-1^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in Dried blood spot^LN|1|0.65|{Ratio}|<1.35|N|||F|||20240212103049 OBX|7|NM|29573-3^Phenylalanine [Moles/volume] in Dried blood spot^LN|1|77.5|µmol/L|<175|N|||F|||20240212103049 OBX|8|NM|35572-7^Phenylalanine/Tyrosine [Molar ratio] in Dried blood spot^LN|1|0.75|{Ratio}|<2.6|N|||F|||20240212103049 OBX|9|NM|35571-9^Tyrosine [Moles/volume] in Dried blood spot^LN|1|425|µmol/L|<680|N|||F|||20240212103049 OBX|10|NM|53231-7^Succinylacetone [Moles/volume] in Dried blood spot^LN|1|2.25|µmol/L|<6.1|N|||F|||20240212103049 OBX|11|NM|47700-0^Methionine [Moles/volume] in Dried blood spot^LN|1|27|µmol/L|6.3-100|N|||F|||20240212103049 OBX|12|NM|42892-0^Citrulline [Moles/volume] in Dried blood spot^LN|1|16.25|µmol/L|5-49|N|||F|||20240212103049 OBX|13|NM|54092-2^Citrulline/Arginine [Molar ratio] in Dried blood spot^LN|1|3|{Ratio}|<4.8|N|||F|||20240212103049 OBX|14|NM|53155-8^Asparagine+Ornithine [Moles/volume] in Dried blood spot^LN|1|400|µmol/L|<800|N|||F|||20240212103049 OBX|15|NM|75215-4^Ornithine/Citrulline [Molar ratio] in Dried blood spot^LN|1|0.5|{Ratio}||N|||F|||20240212103049 OBX|16|NM|47562-4^Arginine [Moles/volume] in Dried blood spot^LN|1|25|µmol/L|<63|N|||F|||20240212103049 OBX|17|NM|75214-7^Arginine/Ornithine [Molar ratio] in Dried blood spot^LN|1|0.7|{Ratio}|<1.9|N|||F|||20240212103049 OBX|18|NM|47732-3^Proline [Moles/volume] in Dried blood spot^LN|1|750|µmol/L|<1500|N|||F|||20240212103049 OBX|19|TX|57710-6^Amino acidemias newborn screening comment/discussion^LN|1|Collected Early. No Interpretation.|||A|||F|||20240212103049 OBR|6|7171232842^FormNumber||58092-8^Acylcarnitine newborn screen panel|||202402081450|||||||||^MILLEN^MARLENE||||||20240212103049|||F OBX|1|CE|58088-6^Acylcarnitine newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20240212103049 OBX|2|TX|58093-6^Acylcarnitine newborn screening comment/discussion^LN|1|Negative|||N|||F|||20240212103049 OBR|7|7171232842^FormNumber||57084-6^Fatty acid oxidation newborn screen panel|||202402081450|||||||||^MILLEN^MARLENE||||||20240212103049|||F OBX|1|NM|38481-8^Carnitine.free (C0)^LN|1|33|µmol/L|6.4-125|N|||F|||20240212103049 OBX|2|NM|53235-8^Carnitine.free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18)^LN|1|37.5|{Ratio}|<70|N|||F|||20240212103049 OBX|3|NM|50157-7^Acetylcarnitine (C2)^LN|1|20.38|µmol/L|10-80|N|||F|||20240212103049 OBX|4|NM|75212-1^Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in Dried blood spot^LN|1|0.62500|{Ratio}|<7.6|N|||F|||20240212103049 OBX|5|NM|45211-0^Hexanoylcarnitine (C6)^LN|1|0.48|µmol/L|<0.95|N|||F|||20240212103049 OBX|6|NM|53175-6^Octanoylcarnitine (C8)^LN|1|0.3|µmol/L|<0.45|N|||F|||20240212103049 OBX|7|NM|53177-2^Octanoylcarnitine (C8)/Decanoylcarnitine (C10)^LN|1|0.5|{Ratio}||N|||F|||20240212103049 OBX|8|NM|53174-9^Octenoylcarnitine (C8:1)^LN|1|0.35|µmol/L|<0.65|N|||F|||20240212103049 OBX|9|NM|45197-1^Decanoylcarnitine (C10)^LN|1|0.32|µmol/L|<0.65|N|||F|||20240212103049 OBX|10|NM|45198-9^Decenoylcarnitine (C10:1)^LN|1|0.22|µmol/L|<0.45|N|||F|||20240212103049 OBX|11|NM|45199-7^Dodecanoylcarnitine (C12)^LN|1|1|µmol/L|<2|N|||F|||20240212103049 OBX|12|NM|45200-3^Dodecenoylcarnitine (C12:1)^LN|1|0.5|µmol/L||N|||F|||20240212103049 OBX|13|NM|53192-1^Tetradecanoylcarnitine (C14)^LN|1|0.6|µmol/L|<1.2|N|||F|||20240212103049 OBX|14|NM|53191-3^Tetradecenoylcarnitine (C14:1)^LN|1|0.4|µmol/L|<0.9|N|||F|||20240212103049 OBX|15|NM|53194-7^Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1)^LN|1|0.5|{Ratio}||N|||F|||20240212103049 OBX|16|NM|53190-5^Tetradecadienoylcarnitine (C14:2)^LN|1|0.5|µmol/L||N|||F|||20240212103049 OBX|17|NM|50281-5^3-Hydroxytetradecanoylcarnitine (C14-OH)^LN|1|0.1|µmol/L|<0.2|N|||F|||20240212103049 OBX|18|NM|53199-6^Palmitoylcarnitine (C16)^LN|1|5|µmol/L|<12|N|||F|||20240212103049 OBX|19|NM|53198-8^Palmitoleylcarnitine (C16:1)^LN|1|0.7|µmol/L|<1.4|N|||F|||20240212103049 OBX|20|NM|50125-4^3-Hydroxypalmitoylcarnitine (C16-OH)^LN|1|0.05|µmol/L|<0.1|N|||F|||20240212103049 OBX|21|NM|53201-0^3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16)^LN|1|0.01000|{Ratio}|<0.07|N|||F|||20240212103049 OBX|22|NM|53241-6^Stearoylcarnitine (C18)^LN|1|2|µmol/L|<3.5|N|||F|||20240212103049 OBX|23|NM|53202-8^Oleoylcarnitine (C18:1)^LN|1|3.5|µmol/L|<7|N|||F|||20240212103049 OBX|24|NM|45217-7^Linoleoylcarnitine (C18:2)^LN|1|0.5|µmol/L||N|||F|||20240212103049 OBX|25|NM|50132-0^3-Hydroxystearoylcarnitine (C18-OH)^LN|1|0.05|µmol/L|<0.1|N|||F|||20240212103049 OBX|26|NM|50113-0^3-Hydroxyoleoylcarnitine (C18:1-OH)^LN|1|0.05|µmol/L|<0.1|N|||F|||20240212103049 OBR|8|7171232842^FormNumber||57085-3^Organic acid newborn screen panel|||202402081450|||||||||^MILLEN^MARLENE||||||20240212103049|||F OBX|1|NM|53160-8^Propionylcarnitine (C3)^LN|1|3.15|µmol/L|<7.9|N|||F|||20240212103049 OBX|2|NM|53163-2^Propionylcarnitine (C3)/Acetylcarnitine (C2)^LN|1|0.15|{Ratio}|<0.42|N|||F|||20240212103049 OBX|3|NM|67708-8^Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)^LN|1|0.2|µmol/L|<0.48|N|||F|||20240212103049 OBX|4|NM|53166-5^Butyrylcarnitine+Isobutyrylcarnitine (C4)^LN|1|0.85|µmol/L|<1.7|N|||F|||20240212103049 OBX|5|NM|45216-9^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)^LN|1|0.5|µmol/L|<0.95|N|||F|||20240212103049 OBX|6|NM|53240-8^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3)^LN|1|0.15873|{Ratio}|<0.38|N|||F|||20240212103049 OBX|7|NM|53170-7^Tiglylcarnitine (C5:1)^LN|1|0.3|µmol/L|<0.5|N|||F|||20240212103049 OBX|8|NM|50106-4^3-Hydroxyisovalerylcarnitine (C5-OH)^LN|1|0.45|µmol/L|<1.15|N|||F|||20240212103049 OBX|9|NM|67710-4^Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)^LN|1|0.3|µmol/L|<0.38|N|||F|||20240212103049 OBX|10|NM|75216-2^Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in Dried blood spot^LN|1|1.50000|{Ratio}|>0.1|N|||F|||20240212103049 OBR|9|7171232842^FormNumber||54078-1^Cystic fibrosis newborn screening panel|||202402081450|||||||||^MILLEN^MARLENE||||||20240212103049|||F OBX|1|NM|48633-2^Trypsinogen I.free^LN|1|31.00|ng/mL|<71|N|||F|||20240212103049 OBX|2|CE|46769-6^Cystic fibrosis newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20240212103049 OBX|3|TX|57707-2^Cystic fibrosis newborn screening comment/discussion^LN|1|Negative|||N|||F|||20240212103049 OBR|10|7171232842^FormNumber||57086-1^Congenital adrenal hyperplasia newborn screening panel|||202402081450|||||||||^MILLEN^MARLENE||||||20240212103049|||F OBX|1|NM|38473-5^17-Hydroxyprogesterone^LN|1|35|nmol/L|<85|N|||F|||20240212103049 OBX|2|CE|46758-9^Congenital adrenal hyperplasia newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20240212103049 OBX|3|TX|57706-4^Congenital adrenal hyperplasia newborn screening comment-discussion^LN|1|Negative|||N|||F|||20240212103049 OBR|11|7171232842^FormNumber||54090-6^Thyroid newborn screening panel|||202402081450|||||||||^MILLEN^MARLENE||||||20240212103049|||F OBX|1|NM|29575-8^Thyrotropin^LN|1|14.50|mIU/L|<29|N|||F|||20240212103049 OBX|2|CE|46762-1^Congenital hypothyroidism newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20240212103049 OBX|3|TX|57705-6^Congenital hypothyroidism newborn screening comment-discussion^LN|1|Negative|||N|||F|||20240212103049 OBR|12|7171232842^FormNumber||54079-9^Galactosemia newborn screening panel|||202402081450|||||||||^MILLEN^MARLENE||||||20240212103049|||F OBX|1|NM|42906-8^Galactose 1 phosphate uridyl transferase^LN|1|55.00|enzyme units|>50|N|||F|||20240212103049 OBX|2|CE|46737-3^Galactosemias newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20240212103049 OBX|3|TX|57704-9^Galactosemias newborn screening comment-discussion^LN|1|Negative|||N|||F|||20240212103049 OBR|13|7171232842^FormNumber||54081-5^Hemoglobinopathies newborn screening panel|||202402081450|||||||||^MILLEN^MARLENE||||||20240212103049|||F OBX|1|TX|54104-5^Hemoglobin pattern^LN|1|FA||||||F|||20240212103049 OBX|2|TX|57703-1^Hemoglobin disorders newborn screening comment/discussion^LN|1|Usual hemoglobin pattern. These results assume no transfusion prior to testing and do not rule out the possibility of a thalassemia trait or rare hemoglobin variants.||||||F|||20240212103049 OBR|14|7171232842^FormNumber||57087-9^Biotinidase newborn screening panel|||202402081450|||||||||^MILLEN^MARLENE||||||20240212103049|||F OBX|1|NM|75217-0^Biotinidase [Enzymatic activity/volume] in Dried blood spot^LN|1|15.00|ERU|>10|N|||F|||20240212103049 OBX|2|CE|46761-3^Biotinidase deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20240212103049 OBX|3|TX|57699-1^Biotinidase deficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20240212103049 OBR|15|7171232842^FormNumber||62333-0^Severe combined immunodeficiency (SCID) newborn screening panel|||202402081450|||||||||^MILLEN^MARLENE||||||20240212103049|||F OBX|1|NM|62320-7^T-cell receptor excision circle [#/volume] in Dried blood spot by Probe and target amplification method^LN|1|33|copies/µL|>18|N|||F|||20240212103049 OBX|2|CE|62321-5^Severe combined immunodeficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20240212103049 OBX|3|TX|62322-3^Severe combined immunodeficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20240212103049 OBR|16|7171232842^FormNumber||63414-7^Pompe Disease newborn screening panel|||202402081450|||||||||^MILLEN^MARLENE||||||20240212103049|||F OBX|1|NM|55827-0^Acid alpha glucosidase [Enzymatic activity/volume] in DBS^LN|1|12.923|µmol/L/h|>=2.079|N|||F|||20240212103049 OBX|2|CE|63415-4^Pompe Disease deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20240212103049 OBX|3|TX|63416-2^Pompe Disease deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20240212103049 OBX|4|TX|63416-2^Pompe Disease deficiency newborn screening comments-discussion^LN|2|Interpretation Comments: The acid alpha-glucosidase Enzyme activity level is above the 18% of the daily patient median and suggests it is screen negative for Pompe disease.|||N|||F|||20240212103049 OBR|17|7171232842^FormNumber||79563-3^Mucopolysaccharidosis type I newborn screening panel|||202402081450|||||||||^MILLEN^MARLENE||||||20240212103049|||F OBX|1|NM|55909-6^Alpha-L-iduronidase [Enzymatic activity/volume] in DBS^LN|1|3.117|µmol/L/h|>=1.2204|N|||F|||20240212103049 OBX|2|CE|79564-1^Mucopolysaccharidosis type I newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20240212103049 OBX|3|TX|79565-8^Mucopolysaccharidosis type I newborn screening comment-discussion^LN|1|Negative|||N|||F|||20240212103049 OBX|4|TX|79565-8^Mucopolysaccharidosis type I newborn screening comment-discussion^LN|2|Interpretation Comments: The alpha-L-iduronidase Enzyme activity is above the 18% of the daily patient median and suggests it is screen negative for Mucopolysaccharidosis I (MPS I) disease.|||N|||F|||20240212103049 OBR|18|7171232842^FormNumber||92005-8^Spinal muscular atrophy newborn screening panel|||202402081450|||||||||^MILLEN^MARLENE||||||20240212103049|||F OBX|1|TX|^^^99717-60^SMN1 Homozygous Deletion Analysis^L|1|Exon 7 Present||Exon 7 Present|N|||F|||20240212103049 OBX|2|CE|92004-1^Spinal muscular atrophy newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20240212103049 OBX|3|TX|92003-3^Spinal muscular atrophy newborn screening comment-discussion^LN|1|SMA Negative|||N|||F|||20240212103049 OBX|4|TX|92003-3^Spinal muscular atrophy newborn screening comment-discussion^LN|2||||N|||F|||20240212103049 OBR|19|7171232842^FormNumber||^^^99717-28^Adrenoleukodystrophy newborn screening panel^L|||202402081450|||||||||^MILLEN^MARLENE||||||20240212103049|||F OBX|1|CE|^^^99717-32^Adrenoleukodystrophy deficiency newborn screening interpretation^L|1|LA18592-8^In range^LN|||N|||F|||20240212103049 OBX|2|TX|^^^99717-33^Adrenoleukodystrophy deficiency newborn screening comments-discussion^L|1|Negative|||N|||F|||20240212103049 OBR|20|7171232842^FormNumber||^^^99717-29^Adrenoleukodystrophy Tier-1 newborn screening panel^L|||202402081450|||||||||^MILLEN^MARLENE||||||20240212103049|||F OBX|1|NM|79321-6^Lysophosphatidylcholine(26:0) [Moles/volume] in Dried blood spot^LN|1|0.2|µmol/L|<0.49|N|||F|||20240212103049 +MSH|^~\&|SISGDSP|SISGDSP|SISHIERECEIVER^11903029^L,M,N|^^L,M,N|20240212103049||ORU^R01^ORU_R01|243408787|T|2.5.1 +PID|1||80008715^^^&NPI^MR||CDPH-FOUR^GIRL A MOMFOUR^^^^^B|||F||2076-8^Native Hawaiian or Other Pacific Islander||||||||||||2186-5^Not Hispanic or Latino||Y|1 +NK1|1|CDPH-FOUR^MOMFOUR|MTH^Mother|123 TOWNE-CENTER DRIVE^^SAN-DIEGO^CA^92126^USA|^^^^^619^1231234|^^^^^858^2493690 +ORC|RE|7171232842^FormNumber||189403712^HospOrdNumber||||||||^WILKINSON^LESLEY|||||||||UCSD JACOBS MEDICAL CENTER^^^^^^^^^R797| 2961DR YLLUT^^SAN DIEGO^CA^99999-9999 +OBR|1|7171232842^FormNumber||54089-8^NB Screen Panel Patient AHIC|||202402081450|||||||||^MILLEN^MARLENE||||||20240212103049|||F +OBR|2|7171232842^FormNumber||57128-1^Newborn Screening Report summary panel|||202402081450|||||||||^MILLEN^MARLENE||||||20240212103049|||F +OBX|1|CE|57721-3^Reason for lab test in Dried blood spot^LN|1|LA12421-6^Initial screen^LN|||N|||F|||20240212103049 +OBX|2|CE|57718-9^Sample quality of Dried blood spot^LN|1|LA12432-3^Acceptable^LN|||N|||F|||20240212103049 +OBX|3|CE|57130-7^Newborn screening report - overall interpretation^LN|1|LA12428-1^All screening is in range for the conditions tested^LN|||N|||F|||20240212103049 +OBX|4|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20240212103049 +OBX|5|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20240212103049 +OBX|6|TX|57724-7^Newborn screening short narrative summary^LN|1|ACTION REQUIRED\.br\\.br\NBS Testing Lab - COMMUNITY REG MEDICAL CENTER LAB \R\M 57752YWKP NAEBC, ETS8021 , FRESNO, CA 99999\.br\\.br\Genetic Disease Laboratory - GDL SAW 19221DVLB NOTGNIH, RICHMOND, CA 99999-9999\.br\\.br\Lab Director - Genetic Disease Laboratory, (510) 231-1790\.br\\.br\Follow-up:\.br\\.br\Amino Acid Panel: There was insufficient data to determine whether or not this newborn was at least 12 hours old when this specimen was collected. Testing of amino acids at less than 12 hours of age is not reliable for detecting certain metabolic disorder. \.br\\.br\If you have any questions regarding these screening outcomes, please contact the Newborn Screening Staff at Rady Children's Hospital San Diego at (161) 122-8708. \.br\\.br\Methods and Limitations:\.br\\.br\Assays for ALD Tier-1, BD, CAH, CF, GAL, MS/MS Acylcarnitine and Amino Acid Panels, PCH, hemoglobinopathies, and SCID were performed at the testing laboratory specified on the front of this report. Assays for ALD Tier-2, CAH Tier-2, Pompe Disease Tier-1, MPS I Tier-1, and SMA were developed and/or optimized by the Genetic Disease Laboratory (GDL), and performed at GDL. Performance characteristics of these assays are determined by GDL. The SMA assay is designed to identify 95% of SMA patients who have homozygous deletions of the SMN1 gene on chromosome 5q. These assays have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. The assays are used for clinical purposes. They should not be regarded as investigational or for research. GDL is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) to perform high complexity genetic disease screening. \.br\Attention Healthcare Provider:\.br\\.br\Due to biological variability of newborns and differences in detection rates for the various disorders in the newborn period, the Newborn Screening Program will not identify all newborns with these conditions. While a positive screening result identifies newborns at an increased risk to justify a diagnostic work-up, a negative screening result does not rule out the possibility of a disorder. Health care providers should remain watchful for any sign or symptoms of these disorders in their patients. A newborn screening result should not be considered diagnostic, and cannot replace the individualized evaluation and diagnosis of an infant by a well-trained, knowledgeable health care provider. \.br\\.br\|||N|||F|||20240212103049 +OBX|7|TX|57129-9^Full newborn screening summary report for display or printing^LN|1||||N|||F|||20240212103049 +OBX|8|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|1|LA22279-6^SMA^LN|||N|||F|||20240212103049 +OBX|9|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|2|LA25796-6^X-ALD^LN|||N|||F|||20240212103049 +OBX|10|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|3|LA14037-8^GAA^LN|||N|||F|||20240212103049 +OBX|11|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|4|LA25797-4^MPS-I^LN|||N|||F|||20240212103049 +OBX|12|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|5|LA12466-1^3-MCC^LN|||N|||F|||20240212103049 +OBX|13|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|6|LA12468-7^3MGA^LN|||N|||F|||20240212103049 +OBX|14|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|7|LA12469-5^5-OXO^LN|||N|||F|||20240212103049 +OBX|15|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|8|LA12470-3^ARG^LN|||N|||F|||20240212103049 +OBX|16|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|9|LA12482-8^CIT-I^LN|||N|||F|||20240212103049 +OBX|17|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|10|LA12483-6^CIT-II^LN|||N|||F|||20240212103049 +OBX|18|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|11|LA12485-1^CPT-Ia^LN|||N|||F|||20240212103049 +OBX|19|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|12|LA12486-9^CPT-II^LN|||N|||F|||20240212103049 +OBX|20|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|13|LA12493-5^GA-1^LN|||N|||F|||20240212103049 +OBX|21|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|14|LA12495-0^GA-2^LN|||N|||F|||20240212103049 +OBX|22|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|15|LA12497-6^HHH^LN|||N|||F|||20240212103049 +OBX|23|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|16|LA12499-2^HMG^LN|||N|||F|||20240212103049 +OBX|24|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|17|LA12505-6^IVA^LN|||N|||F|||20240212103049 +OBX|25|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|18|LA12507-2^LCHAD^LN|||N|||F|||20240212103049 +OBX|26|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|19|LA12508-0^MAL^LN|||N|||F|||20240212103049 +OBX|27|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|20|LA12509-8^MCAD^LN|||N|||F|||20240212103049 +OBX|28|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|21|LA12510-6^MCD^LN|||N|||F|||20240212103049 +OBX|29|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|22|LA12512-2^MET^LN|||N|||F|||20240212103049 +OBX|30|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|23|LA12513-0^MSUD^LN|||N|||F|||20240212103049 +OBX|31|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|24|LA12516-3^NKHG^LN|||N|||F|||20240212103049 +OBX|32|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|25|LA12520-5^PKU^LN|||N|||F|||20240212103049 +OBX|33|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|26|LA12521-3^PRO I^LN|||N|||F|||20240212103049 +OBX|34|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|27|LA12528-8^TYR-1^LN|||N|||F|||20240212103049 +OBX|35|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|28|LA12529-6^TYR-II^LN|||N|||F|||20240212103049 +OBX|36|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|29|LA12531-2^VLCAD^LN|||N|||F|||20240212103049 +OBX|37|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|30|LA12532-0^BIO^LN|||N|||F|||20240212103049 +OBX|38|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|31|LA12533-8^CAH^LN|||N|||F|||20240212103049 +OBX|39|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|32|LA12537-9^CF^LN|||N|||F|||20240212103049 +OBX|40|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|33|LA12543-7^GALT^LN|||N|||F|||20240212103049 +OBX|41|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|34|LA12566-8^SCID^LN|||N|||F|||20240212103049 +OBX|42|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|35|LA12576-7^SCAD or EMA or IBG or GA-2 (MADD)^LN|||N|||F|||20240212103049 +OBX|43|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|36|LA16207-5^Hemoglobinopathies^LN|||N|||F|||20240212103049 +OBX|44|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|37|99717-3^Hypothyroidism^L|||N|||F|||20240212103049 +OBX|45|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|38|LA12487-7^CUD^LN|||N|||F|||20240212103049 +OBX|46|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|39|LA12474-5^BKT^LN|||N|||F|||20240212103049 +OBX|47|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|40|LA12523-9^PA^LN|||N|||F|||20240212103049 +OBX|48|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|41|LA12515-5^MMA^LN|||N|||F|||20240212103049 +OBX|49|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|42|LA12464-6^2M3HBA^LN|||N|||F|||20240212103049 +OBR|3|7171232842^FormNumber||57717-1^Newborn screen card data panel|||202402081450|||||||||^MILLEN^MARLENE||||||20240212103049|||F +OBX|1|ST|57716-3^State printed on filter paper card [Identifier] in NBS card^LN|1|CA|||N|||F|||20240212103049 +OBX|2|NM|8339-4^Birthweight^LN|1|3175|grams||N|||F|||20240212103049 +OBX|3|CE|57722-1^Birth plurality of Pregnancy^LN|1|LA12411-7^Singleton^LN|||N|||F|||20240212103049 +OBX|4|CE|57713-0^Infant NICU factors that affect newborn screening interpretation^LN|1|LA137-2^None^LN|||N|||F|||20240212103049 +OBX|5|CE|67704-7^Feeding types^LN|1|LA16914-6^Breast milk^LN|||N|||F|||20240212103049 +OBX|6|TX|^^^99717-5^Accession Number^L|1|040-70-677/21-2024-21|||N|||F|||20240212103049 +OBX|7|TX|62324-9^Post-discharge provider name^LN|1|LESLEY WILKINSON|||N|||F|||20240212103049 +OBX|8|TX|62327-2^Post-discharge provider practice address^LN|1|2961DR YLLUT SAN DIEGO CA 99999-9999 USA|||N|||F|||20240212103049 +OBR|4|7171232842^FormNumber||57794-0^Newborn screening test results panel in Dried blood spot|||202402081450|||||||||^MILLEN^MARLENE||||||20240212103049|||F +OBR|5|7171232842^FormNumber||53261-4^Amino acid newborn screen panel|||202402081450|||||||||^MILLEN^MARLENE||||||20240212103049|||F +OBX|1|NM|47633-3^Glycine [Moles/volume] in Dried blood spot^LN|1|0.5|µmol/L||N|||F|||20240212103049 +OBX|2|NM|53150-9^Alanine+Beta Alanine+Sarcosine [Moles/volume] in Dried blood spot^LN|1|500|µmol/L|<1000|N|||F|||20240212103049 +OBX|3|NM|47799-2^Valine [Moles/volume] in Dried blood spot^LN|1|0.5|µmol/L||N|||F|||20240212103049 +OBX|4|NM|53151-7^Valine/Phenylalanine [Molar ratio] in Dried blood spot^LN|1|0.00645|{Ratio}|<4.3|N|||F|||20240212103049 +OBX|5|NM|53152-5^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline^LN|1|125|µmol/L|<230|N|||F|||20240212103049 +OBX|6|NM|53154-1^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in Dried blood spot^LN|1|0.65|{Ratio}|<1.35|N|||F|||20240212103049 +OBX|7|NM|29573-3^Phenylalanine [Moles/volume] in Dried blood spot^LN|1|77.5|µmol/L|<175|N|||F|||20240212103049 +OBX|8|NM|35572-7^Phenylalanine/Tyrosine [Molar ratio] in Dried blood spot^LN|1|0.75|{Ratio}|<2.6|N|||F|||20240212103049 +OBX|9|NM|35571-9^Tyrosine [Moles/volume] in Dried blood spot^LN|1|425|µmol/L|<680|N|||F|||20240212103049 +OBX|10|NM|53231-7^Succinylacetone [Moles/volume] in Dried blood spot^LN|1|2.25|µmol/L|<6.1|N|||F|||20240212103049 +OBX|11|NM|47700-0^Methionine [Moles/volume] in Dried blood spot^LN|1|27|µmol/L|6.3-100|N|||F|||20240212103049 +OBX|12|NM|42892-0^Citrulline [Moles/volume] in Dried blood spot^LN|1|16.25|µmol/L|5-49|N|||F|||20240212103049 +OBX|13|NM|54092-2^Citrulline/Arginine [Molar ratio] in Dried blood spot^LN|1|3|{Ratio}|<4.8|N|||F|||20240212103049 +OBX|14|NM|53155-8^Asparagine+Ornithine [Moles/volume] in Dried blood spot^LN|1|400|µmol/L|<800|N|||F|||20240212103049 +OBX|15|NM|75215-4^Ornithine/Citrulline [Molar ratio] in Dried blood spot^LN|1|0.5|{Ratio}||N|||F|||20240212103049 +OBX|16|NM|47562-4^Arginine [Moles/volume] in Dried blood spot^LN|1|25|µmol/L|<63|N|||F|||20240212103049 +OBX|17|NM|75214-7^Arginine/Ornithine [Molar ratio] in Dried blood spot^LN|1|0.7|{Ratio}|<1.9|N|||F|||20240212103049 +OBX|18|NM|47732-3^Proline [Moles/volume] in Dried blood spot^LN|1|750|µmol/L|<1500|N|||F|||20240212103049 +OBX|19|TX|57710-6^Amino acidemias newborn screening comment/discussion^LN|1|Collected Early. No Interpretation.|||A|||F|||20240212103049 +OBR|6|7171232842^FormNumber||58092-8^Acylcarnitine newborn screen panel|||202402081450|||||||||^MILLEN^MARLENE||||||20240212103049|||F +OBX|1|CE|58088-6^Acylcarnitine newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20240212103049 +OBX|2|TX|58093-6^Acylcarnitine newborn screening comment/discussion^LN|1|Negative|||N|||F|||20240212103049 +OBR|7|7171232842^FormNumber||57084-6^Fatty acid oxidation newborn screen panel|||202402081450|||||||||^MILLEN^MARLENE||||||20240212103049|||F +OBX|1|NM|38481-8^Carnitine.free (C0)^LN|1|33|µmol/L|6.4-125|N|||F|||20240212103049 +OBX|2|NM|53235-8^Carnitine.free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18)^LN|1|37.5|{Ratio}|<70|N|||F|||20240212103049 +OBX|3|NM|50157-7^Acetylcarnitine (C2)^LN|1|20.38|µmol/L|10-80|N|||F|||20240212103049 +OBX|4|NM|75212-1^Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in Dried blood spot^LN|1|0.62500|{Ratio}|<7.6|N|||F|||20240212103049 +OBX|5|NM|45211-0^Hexanoylcarnitine (C6)^LN|1|0.48|µmol/L|<0.95|N|||F|||20240212103049 +OBX|6|NM|53175-6^Octanoylcarnitine (C8)^LN|1|0.3|µmol/L|<0.45|N|||F|||20240212103049 +OBX|7|NM|53177-2^Octanoylcarnitine (C8)/Decanoylcarnitine (C10)^LN|1|0.5|{Ratio}||N|||F|||20240212103049 +OBX|8|NM|53174-9^Octenoylcarnitine (C8:1)^LN|1|0.35|µmol/L|<0.65|N|||F|||20240212103049 +OBX|9|NM|45197-1^Decanoylcarnitine (C10)^LN|1|0.32|µmol/L|<0.65|N|||F|||20240212103049 +OBX|10|NM|45198-9^Decenoylcarnitine (C10:1)^LN|1|0.22|µmol/L|<0.45|N|||F|||20240212103049 +OBX|11|NM|45199-7^Dodecanoylcarnitine (C12)^LN|1|1|µmol/L|<2|N|||F|||20240212103049 +OBX|12|NM|45200-3^Dodecenoylcarnitine (C12:1)^LN|1|0.5|µmol/L||N|||F|||20240212103049 +OBX|13|NM|53192-1^Tetradecanoylcarnitine (C14)^LN|1|0.6|µmol/L|<1.2|N|||F|||20240212103049 +OBX|14|NM|53191-3^Tetradecenoylcarnitine (C14:1)^LN|1|0.4|µmol/L|<0.9|N|||F|||20240212103049 +OBX|15|NM|53194-7^Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1)^LN|1|0.5|{Ratio}||N|||F|||20240212103049 +OBX|16|NM|53190-5^Tetradecadienoylcarnitine (C14:2)^LN|1|0.5|µmol/L||N|||F|||20240212103049 +OBX|17|NM|50281-5^3-Hydroxytetradecanoylcarnitine (C14-OH)^LN|1|0.1|µmol/L|<0.2|N|||F|||20240212103049 +OBX|18|NM|53199-6^Palmitoylcarnitine (C16)^LN|1|5|µmol/L|<12|N|||F|||20240212103049 +OBX|19|NM|53198-8^Palmitoleylcarnitine (C16:1)^LN|1|0.7|µmol/L|<1.4|N|||F|||20240212103049 +OBX|20|NM|50125-4^3-Hydroxypalmitoylcarnitine (C16-OH)^LN|1|0.05|µmol/L|<0.1|N|||F|||20240212103049 +OBX|21|NM|53201-0^3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16)^LN|1|0.01000|{Ratio}|<0.07|N|||F|||20240212103049 +OBX|22|NM|53241-6^Stearoylcarnitine (C18)^LN|1|2|µmol/L|<3.5|N|||F|||20240212103049 +OBX|23|NM|53202-8^Oleoylcarnitine (C18:1)^LN|1|3.5|µmol/L|<7|N|||F|||20240212103049 +OBX|24|NM|45217-7^Linoleoylcarnitine (C18:2)^LN|1|0.5|µmol/L||N|||F|||20240212103049 +OBX|25|NM|50132-0^3-Hydroxystearoylcarnitine (C18-OH)^LN|1|0.05|µmol/L|<0.1|N|||F|||20240212103049 +OBX|26|NM|50113-0^3-Hydroxyoleoylcarnitine (C18:1-OH)^LN|1|0.05|µmol/L|<0.1|N|||F|||20240212103049 +OBR|8|7171232842^FormNumber||57085-3^Organic acid newborn screen panel|||202402081450|||||||||^MILLEN^MARLENE||||||20240212103049|||F +OBX|1|NM|53160-8^Propionylcarnitine (C3)^LN|1|3.15|µmol/L|<7.9|N|||F|||20240212103049 +OBX|2|NM|53163-2^Propionylcarnitine (C3)/Acetylcarnitine (C2)^LN|1|0.15|{Ratio}|<0.42|N|||F|||20240212103049 +OBX|3|NM|67708-8^Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)^LN|1|0.2|µmol/L|<0.48|N|||F|||20240212103049 +OBX|4|NM|53166-5^Butyrylcarnitine+Isobutyrylcarnitine (C4)^LN|1|0.85|µmol/L|<1.7|N|||F|||20240212103049 +OBX|5|NM|45216-9^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)^LN|1|0.5|µmol/L|<0.95|N|||F|||20240212103049 +OBX|6|NM|53240-8^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3)^LN|1|0.15873|{Ratio}|<0.38|N|||F|||20240212103049 +OBX|7|NM|53170-7^Tiglylcarnitine (C5:1)^LN|1|0.3|µmol/L|<0.5|N|||F|||20240212103049 +OBX|8|NM|50106-4^3-Hydroxyisovalerylcarnitine (C5-OH)^LN|1|0.45|µmol/L|<1.15|N|||F|||20240212103049 +OBX|9|NM|67710-4^Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)^LN|1|0.3|µmol/L|<0.38|N|||F|||20240212103049 +OBX|10|NM|75216-2^Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in Dried blood spot^LN|1|1.50000|{Ratio}|>0.1|N|||F|||20240212103049 +OBR|9|7171232842^FormNumber||54078-1^Cystic fibrosis newborn screening panel|||202402081450|||||||||^MILLEN^MARLENE||||||20240212103049|||F +OBX|1|NM|48633-2^Trypsinogen I.free^LN|1|31.00|ng/mL|<71|N|||F|||20240212103049 +OBX|2|CE|46769-6^Cystic fibrosis newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20240212103049 +OBX|3|TX|57707-2^Cystic fibrosis newborn screening comment/discussion^LN|1|Negative|||N|||F|||20240212103049 +OBR|10|7171232842^FormNumber||57086-1^Congenital adrenal hyperplasia newborn screening panel|||202402081450|||||||||^MILLEN^MARLENE||||||20240212103049|||F +OBX|1|NM|38473-5^17-Hydroxyprogesterone^LN|1|35|nmol/L|<85|N|||F|||20240212103049 +OBX|2|CE|46758-9^Congenital adrenal hyperplasia newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20240212103049 +OBX|3|TX|57706-4^Congenital adrenal hyperplasia newborn screening comment-discussion^LN|1|Negative|||N|||F|||20240212103049 +OBR|11|7171232842^FormNumber||54090-6^Thyroid newborn screening panel|||202402081450|||||||||^MILLEN^MARLENE||||||20240212103049|||F +OBX|1|NM|29575-8^Thyrotropin^LN|1|14.50|mIU/L|<29|N|||F|||20240212103049 +OBX|2|CE|46762-1^Congenital hypothyroidism newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20240212103049 +OBX|3|TX|57705-6^Congenital hypothyroidism newborn screening comment-discussion^LN|1|Negative|||N|||F|||20240212103049 +OBR|12|7171232842^FormNumber||54079-9^Galactosemia newborn screening panel|||202402081450|||||||||^MILLEN^MARLENE||||||20240212103049|||F +OBX|1|NM|42906-8^Galactose 1 phosphate uridyl transferase^LN|1|55.00|enzyme units|>50|N|||F|||20240212103049 +OBX|2|CE|46737-3^Galactosemias newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20240212103049 +OBX|3|TX|57704-9^Galactosemias newborn screening comment-discussion^LN|1|Negative|||N|||F|||20240212103049 +OBR|13|7171232842^FormNumber||54081-5^Hemoglobinopathies newborn screening panel|||202402081450|||||||||^MILLEN^MARLENE||||||20240212103049|||F +OBX|1|TX|54104-5^Hemoglobin pattern^LN|1|FA||||||F|||20240212103049 +OBX|2|TX|57703-1^Hemoglobin disorders newborn screening comment/discussion^LN|1|Usual hemoglobin pattern.†These results assume no transfusion prior to testing and do not rule out the possibility of a thalassemia trait or rare hemoglobin variants.||||||F|||20240212103049 +OBR|14|7171232842^FormNumber||57087-9^Biotinidase newborn screening panel|||202402081450|||||||||^MILLEN^MARLENE||||||20240212103049|||F +OBX|1|NM|75217-0^Biotinidase [Enzymatic activity/volume] in Dried blood spot^LN|1|15.00|ERU|>10|N|||F|||20240212103049 +OBX|2|CE|46761-3^Biotinidase deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20240212103049 +OBX|3|TX|57699-1^Biotinidase deficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20240212103049 +OBR|15|7171232842^FormNumber||62333-0^Severe combined immunodeficiency (SCID) newborn screening panel|||202402081450|||||||||^MILLEN^MARLENE||||||20240212103049|||F +OBX|1|NM|62320-7^T-cell receptor excision circle [#/volume] in Dried blood spot by Probe and target amplification method^LN|1|33|copies/µL|>18|N|||F|||20240212103049 +OBX|2|CE|62321-5^Severe combined immunodeficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20240212103049 +OBX|3|TX|62322-3^Severe combined immunodeficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20240212103049 +OBR|16|7171232842^FormNumber||63414-7^Pompe Disease newborn screening panel|||202402081450|||||||||^MILLEN^MARLENE||||||20240212103049|||F +OBX|1|NM|55827-0^Acid alpha glucosidase [Enzymatic activity/volume] in DBS^LN|1|12.923|µmol/L/h|>=2.079|N|||F|||20240212103049 +OBX|2|CE|63415-4^Pompe Disease deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20240212103049 +OBX|3|TX|63416-2^Pompe Disease deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20240212103049 +OBX|4|TX|63416-2^Pompe Disease deficiency newborn screening comments-discussion^LN|2|Interpretation Comments: The acid alpha-glucosidase Enzyme activity level is above the 18% of the daily patient median and suggests it is screen negative for Pompe disease.|||N|||F|||20240212103049 +OBR|17|7171232842^FormNumber||79563-3^Mucopolysaccharidosis type I newborn screening panel|||202402081450|||||||||^MILLEN^MARLENE||||||20240212103049|||F +OBX|1|NM|55909-6^Alpha-L-iduronidase [Enzymatic activity/volume] in DBS^LN|1|3.117|µmol/L/h|>=1.2204|N|||F|||20240212103049 +OBX|2|CE|79564-1^Mucopolysaccharidosis type I newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20240212103049 +OBX|3|TX|79565-8^Mucopolysaccharidosis type I newborn screening comment-discussion^LN|1|Negative|||N|||F|||20240212103049 +OBX|4|TX|79565-8^Mucopolysaccharidosis type I newborn screening comment-discussion^LN|2|Interpretation Comments: The alpha-L-iduronidase Enzyme activity is above the 18% of the daily patient median and suggests it is screen negative for Mucopolysaccharidosis I (MPS I) disease.|||N|||F|||20240212103049 +OBR|18|7171232842^FormNumber||92005-8^Spinal muscular atrophy newborn screening panel|||202402081450|||||||||^MILLEN^MARLENE||||||20240212103049|||F +OBX|1|TX|^^^99717-60^SMN1 Homozygous Deletion Analysis^L|1|Exon 7 Present||Exon 7 Present|N|||F|||20240212103049 +OBX|2|CE|92004-1^Spinal muscular atrophy newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20240212103049 +OBX|3|TX|92003-3^Spinal muscular atrophy newborn screening comment-discussion^LN|1|SMA Negative|||N|||F|||20240212103049 +OBX|4|TX|92003-3^Spinal muscular atrophy newborn screening comment-discussion^LN|2||||N|||F|||20240212103049 +OBR|19|7171232842^FormNumber||^^^99717-28^Adrenoleukodystrophy newborn screening panel^L|||202402081450|||||||||^MILLEN^MARLENE||||||20240212103049|||F +OBX|1|CE|^^^99717-32^Adrenoleukodystrophy deficiency newborn screening interpretation^L|1|LA18592-8^In range^LN|||N|||F|||20240212103049 +OBX|2|TX|^^^99717-33^Adrenoleukodystrophy deficiency newborn screening comments-discussion^L|1|Negative|||N|||F|||20240212103049 +OBR|20|7171232842^FormNumber||^^^99717-29^Adrenoleukodystrophy Tier-1 newborn screening panel^L|||202402081450|||||||||^MILLEN^MARLENE||||||20240212103049|||F +OBX|1|NM|79321-6^Lysophosphatidylcholine(26:0) [Moles/volume] in Dried blood spot^LN|1|0.2|µmol/L|<0.49|N|||F|||20240212103049 diff --git a/examples/CA/004_CA_ORU_R01_CDPH_produced.hl7 b/examples/CA/004_CA_ORU_R01_CDPH_produced.hl7 index 74f7ae940..bfa0228c4 100644 --- a/examples/CA/004_CA_ORU_R01_CDPH_produced.hl7 +++ b/examples/CA/004_CA_ORU_R01_CDPH_produced.hl7 @@ -1 +1,173 @@ -MSH|^~\&|SISGDSP|SISGDSP|SISHIERECEIVER^11903029^L,M,N|^^L,M,N|20240226034304||ORU^R01^ORU_R01|243408836|T|2.5.1 PID|1||80008836^^^&NPI^MR||CDPHSIX^BOY MOMSIX^^^^^B|||M||2106-3^White||||||||||||2186-5^Not Hispanic or Latino||N|1 NK1|1|CDPHSIX|MTH^Mother|132 ST^^SAN DIEGO^CA^92126^USA ORC|RE|7181233072^FormNumber||189430284^HospOrdNumber||||||||^ROSEN^REBECCA|||||||||UCSD JACOBS MEDICAL CENTER^^^^^^^^^R797| 2961DR YLLUT^^SAN DIEGO^CA^99999-9999 OBR|1|7181233072^FormNumber||54089-8^NB Screen Panel Patient AHIC|||202402131546|||||||||^JOHNSON^KATHRYN||||||20240226034304|||F OBR|2|7181233072^FormNumber||57128-1^Newborn Screening Report summary panel|||202402131546|||||||||^JOHNSON^KATHRYN||||||20240226034304|||F OBX|1|CE|57721-3^Reason for lab test in Dried blood spot^LN|1|LA12421-6^Initial screen^LN|||N|||F|||20240226034304 OBX|2|CE|57718-9^Sample quality of Dried blood spot^LN|1|LA12432-3^Acceptable^LN|||N|||F|||20240226034304 OBX|3|CE|57130-7^Newborn screening report - overall interpretation^LN|1|LA18944-1^Screen is out of range for at least one condition^LN|||N|||F|||20240226034304 OBX|4|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|1|LA22279-6^SMA^LN|||N|||F|||20240226034304 OBX|5|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20240226034304 OBX|6|TX|57724-7^Newborn screening short narrative summary^LN|1|ACTION REQUIRED\.br\\.br\NBS Testing Lab - COMMUNITY REG MEDICAL CENTER LAB \R\M 57752YWKP NAEBC, ETS8021 , FRESNO, CA 99999\.br\\.br\Genetic Disease Laboratory - GDL SAW 19221DVLB NOTGNIH, RICHMOND, CA 99999-9999\.br\\.br\Lab Director - Genetic Disease Laboratory, (510) 231-1790\.br\\.br\Follow-up:\.br\\.br\Amino Acid Panel: There was insufficient data to determine whether or not this newborn was at least 12 hours old when this specimen was collected. Testing of amino acids at less than 12 hours of age is not reliable for detecting certain metabolic disorder. \.br\\.br\Spinal Muscular Atrophy (SMA): An immediate referral to a CCS-approved Neuromuscular Center for evaluation and additional testing is strongly recommended due an apparent SMN1 exon 7 homozygous deletion. \.br\\.br\If you have any questions regarding these screening outcomes, please contact the Newborn Screening Staff at Rady Children's Hospital San Diego at (161) 122-8708. \.br\\.br\Methods and Limitations:\.br\\.br\Assays for ALD Tier-1, BD, CAH, CF, GAL, MS/MS Acylcarnitine and Amino Acid Panels, PCH, hemoglobinopathies, and SCID were performed at the testing laboratory specified on the front of this report. Assays for ALD Tier-2, CAH Tier-2, Pompe Disease Tier-1, MPS I Tier-1, and SMA were developed and/or optimized by the Genetic Disease Laboratory (GDL), and performed at GDL. Performance characteristics of these assays are determined by GDL. The SMA assay is designed to identify 95% of SMA patients who have homozygous deletions of the SMN1 gene on chromosome 5q. These assays have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. The assays are used for clinical purposes. They should not be regarded as investigational or for research. GDL is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) to perform high complexity genetic disease screening. \.br\Attention Healthcare Provider:\.br\\.br\Due to biological variability of newborns and differences in detection rates for the various disorders in the newborn period, the Newborn Screening Program will not identify all newborns with these conditions. While a positive screening result identifies newborns at an increased risk to justify a diagnostic work-up, a negative screening result does not rule out the possibility of a disorder. Health care providers should remain watchful for any sign or symptoms of these disorders in their patients. A newborn screening result should not be considered diagnostic, and cannot replace the individualized evaluation and diagnosis of an infant by a well-trained, knowledgeable health care provider. \.br\\.br\|||N|||F|||20240226034304 OBX|7|TX|57129-9^Full newborn screening summary report for display or printing^LN|1||||N|||F|||20240226034304 OBX|8|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|1|LA22279-6^SMA^LN|||N|||F|||20240226034304 OBX|9|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|2|LA25796-6^X-ALD^LN|||N|||F|||20240226034304 OBX|10|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|3|LA14037-8^GAA^LN|||N|||F|||20240226034304 OBX|11|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|4|LA25797-4^MPS-I^LN|||N|||F|||20240226034304 OBX|12|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|5|LA12466-1^3-MCC^LN|||N|||F|||20240226034304 OBX|13|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|6|LA12468-7^3MGA^LN|||N|||F|||20240226034304 OBX|14|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|7|LA12469-5^5-OXO^LN|||N|||F|||20240226034304 OBX|15|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|8|LA12470-3^ARG^LN|||N|||F|||20240226034304 OBX|16|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|9|LA12482-8^CIT-I^LN|||N|||F|||20240226034304 OBX|17|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|10|LA12483-6^CIT-II^LN|||N|||F|||20240226034304 OBX|18|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|11|LA12485-1^CPT-Ia^LN|||N|||F|||20240226034304 OBX|19|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|12|LA12486-9^CPT-II^LN|||N|||F|||20240226034304 OBX|20|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|13|LA12493-5^GA-1^LN|||N|||F|||20240226034304 OBX|21|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|14|LA12495-0^GA-2^LN|||N|||F|||20240226034304 OBX|22|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|15|LA12497-6^HHH^LN|||N|||F|||20240226034304 OBX|23|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|16|LA12499-2^HMG^LN|||N|||F|||20240226034304 OBX|24|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|17|LA12505-6^IVA^LN|||N|||F|||20240226034304 OBX|25|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|18|LA12507-2^LCHAD^LN|||N|||F|||20240226034304 OBX|26|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|19|LA12508-0^MAL^LN|||N|||F|||20240226034304 OBX|27|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|20|LA12509-8^MCAD^LN|||N|||F|||20240226034304 OBX|28|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|21|LA12510-6^MCD^LN|||N|||F|||20240226034304 OBX|29|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|22|LA12512-2^MET^LN|||N|||F|||20240226034304 OBX|30|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|23|LA12513-0^MSUD^LN|||N|||F|||20240226034304 OBX|31|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|24|LA12516-3^NKHG^LN|||N|||F|||20240226034304 OBX|32|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|25|LA12520-5^PKU^LN|||N|||F|||20240226034304 OBX|33|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|26|LA12521-3^PRO I^LN|||N|||F|||20240226034304 OBX|34|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|27|LA12528-8^TYR-1^LN|||N|||F|||20240226034304 OBX|35|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|28|LA12529-6^TYR-II^LN|||N|||F|||20240226034304 OBX|36|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|29|LA12531-2^VLCAD^LN|||N|||F|||20240226034304 OBX|37|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|30|LA12532-0^BIO^LN|||N|||F|||20240226034304 OBX|38|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|31|LA12533-8^CAH^LN|||N|||F|||20240226034304 OBX|39|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|32|LA12537-9^CF^LN|||N|||F|||20240226034304 OBX|40|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|33|LA12543-7^GALT^LN|||N|||F|||20240226034304 OBX|41|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|34|LA12566-8^SCID^LN|||N|||F|||20240226034304 OBX|42|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|35|LA12576-7^SCAD or EMA or IBG or GA-2 (MADD)^LN|||N|||F|||20240226034304 OBX|43|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|36|LA16207-5^Hemoglobinopathies^LN|||N|||F|||20240226034304 OBX|44|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|37|99717-3^Hypothyroidism^L|||N|||F|||20240226034304 OBX|45|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|38|LA12487-7^CUD^LN|||N|||F|||20240226034304 OBX|46|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|39|LA12474-5^BKT^LN|||N|||F|||20240226034304 OBX|47|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|40|LA12523-9^PA^LN|||N|||F|||20240226034304 OBX|48|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|41|LA12515-5^MMA^LN|||N|||F|||20240226034304 OBX|49|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|42|LA12464-6^2M3HBA^LN|||N|||F|||20240226034304 OBR|3|7181233072^FormNumber||57717-1^Newborn screen card data panel|||202402131546|||||||||^JOHNSON^KATHRYN||||||20240226034304|||F OBX|1|ST|57716-3^State printed on filter paper card [Identifier] in NBS card^LN|1|CA|||N|||F|||20240226034304 OBX|2|NM|8339-4^Birthweight^LN|1|3000|grams||N|||F|||20240226034304 OBX|3|CE|57722-1^Birth plurality of Pregnancy^LN|1|LA12411-7^Singleton^LN|||N|||F|||20240226034304 OBX|4|CE|57713-0^Infant NICU factors that affect newborn screening interpretation^LN|1|LA137-2^None^LN|||N|||F|||20240226034304 OBX|5|CE|67704-7^Feeding types^LN|1|LA16914-6^Breast milk^LN|||N|||F|||20240226034304 OBX|6|TX|^^^99717-5^Accession Number^L|1|045-89-477/21-2024-21|||N|||F|||20240226034304 OBX|7|TX|62324-9^Post-discharge provider name^LN|1|REBECCA ROSEN|||N|||F|||20240226034304 OBX|8|TX|62327-2^Post-discharge provider practice address^LN|1|2961DR YLLUT SAN DIEGO CA 99999-9999 USA|||N|||F|||20240226034304 OBR|4|7181233072^FormNumber||57794-0^Newborn screening test results panel in Dried blood spot|||202402131546|||||||||^JOHNSON^KATHRYN||||||20240226034304|||F OBR|5|7181233072^FormNumber||53261-4^Amino acid newborn screen panel|||202402131546|||||||||^JOHNSON^KATHRYN||||||20240226034304|||F OBX|1|NM|47633-3^Glycine [Moles/volume] in Dried blood spot^LN|1|0.5|µmol/L||N|||F|||20240226034304 OBX|2|NM|53150-9^Alanine+Beta Alanine+Sarcosine [Moles/volume] in Dried blood spot^LN|1|500|µmol/L|<1000|N|||F|||20240226034304 OBX|3|NM|47799-2^Valine [Moles/volume] in Dried blood spot^LN|1|0.5|µmol/L||N|||F|||20240226034304 OBX|4|NM|53151-7^Valine/Phenylalanine [Molar ratio] in Dried blood spot^LN|1|0.00645|{Ratio}|<4.3|N|||F|||20240226034304 OBX|5|NM|53152-5^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline^LN|1|125|µmol/L|<230|N|||F|||20240226034304 OBX|6|NM|53154-1^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in Dried blood spot^LN|1|0.65|{Ratio}|<1.35|N|||F|||20240226034304 OBX|7|NM|29573-3^Phenylalanine [Moles/volume] in Dried blood spot^LN|1|77.5|µmol/L|<175|N|||F|||20240226034304 OBX|8|NM|35572-7^Phenylalanine/Tyrosine [Molar ratio] in Dried blood spot^LN|1|0.75|{Ratio}|<2.6|N|||F|||20240226034304 OBX|9|NM|35571-9^Tyrosine [Moles/volume] in Dried blood spot^LN|1|425|µmol/L|<680|N|||F|||20240226034304 OBX|10|NM|53231-7^Succinylacetone [Moles/volume] in Dried blood spot^LN|1|2.25|µmol/L|<6.1|N|||F|||20240226034304 OBX|11|NM|47700-0^Methionine [Moles/volume] in Dried blood spot^LN|1|27|µmol/L|6.3-100|N|||F|||20240226034304 OBX|12|NM|42892-0^Citrulline [Moles/volume] in Dried blood spot^LN|1|16.25|µmol/L|5-49|N|||F|||20240226034304 OBX|13|NM|54092-2^Citrulline/Arginine [Molar ratio] in Dried blood spot^LN|1|3|{Ratio}|<4.8|N|||F|||20240226034304 OBX|14|NM|53155-8^Asparagine+Ornithine [Moles/volume] in Dried blood spot^LN|1|400|µmol/L|<800|N|||F|||20240226034304 OBX|15|NM|75215-4^Ornithine/Citrulline [Molar ratio] in Dried blood spot^LN|1|0.5|{Ratio}||N|||F|||20240226034304 OBX|16|NM|47562-4^Arginine [Moles/volume] in Dried blood spot^LN|1|25|µmol/L|<63|N|||F|||20240226034304 OBX|17|NM|75214-7^Arginine/Ornithine [Molar ratio] in Dried blood spot^LN|1|0.7|{Ratio}|<1.9|N|||F|||20240226034304 OBX|18|NM|47732-3^Proline [Moles/volume] in Dried blood spot^LN|1|750|µmol/L|<1500|N|||F|||20240226034304 OBX|19|TX|57710-6^Amino acidemias newborn screening comment/discussion^LN|1|Collected Early. No Interpretation.|||A|||F|||20240226034304 OBR|6|7181233072^FormNumber||58092-8^Acylcarnitine newborn screen panel|||202402131546|||||||||^JOHNSON^KATHRYN||||||20240226034304|||F OBX|1|CE|58088-6^Acylcarnitine newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20240226034304 OBX|2|TX|58093-6^Acylcarnitine newborn screening comment/discussion^LN|1|Negative|||N|||F|||20240226034304 OBR|7|7181233072^FormNumber||57084-6^Fatty acid oxidation newborn screen panel|||202402131546|||||||||^JOHNSON^KATHRYN||||||20240226034304|||F OBX|1|NM|38481-8^Carnitine.free (C0)^LN|1|33|µmol/L|6.4-125|N|||F|||20240226034304 OBX|2|NM|53235-8^Carnitine.free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18)^LN|1|37.5|{Ratio}|<70|N|||F|||20240226034304 OBX|3|NM|50157-7^Acetylcarnitine (C2)^LN|1|20.38|µmol/L|10-80|N|||F|||20240226034304 OBX|4|NM|75212-1^Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in Dried blood spot^LN|1|0.62500|{Ratio}|<7.6|N|||F|||20240226034304 OBX|5|NM|45211-0^Hexanoylcarnitine (C6)^LN|1|0.48|µmol/L|<0.95|N|||F|||20240226034304 OBX|6|NM|53175-6^Octanoylcarnitine (C8)^LN|1|0.3|µmol/L|<0.45|N|||F|||20240226034304 OBX|7|NM|53177-2^Octanoylcarnitine (C8)/Decanoylcarnitine (C10)^LN|1|0.5|{Ratio}||N|||F|||20240226034304 OBX|8|NM|53174-9^Octenoylcarnitine (C8:1)^LN|1|0.35|µmol/L|<0.65|N|||F|||20240226034304 OBX|9|NM|45197-1^Decanoylcarnitine (C10)^LN|1|0.32|µmol/L|<0.65|N|||F|||20240226034304 OBX|10|NM|45198-9^Decenoylcarnitine (C10:1)^LN|1|0.22|µmol/L|<0.45|N|||F|||20240226034304 OBX|11|NM|45199-7^Dodecanoylcarnitine (C12)^LN|1|1|µmol/L|<2|N|||F|||20240226034304 OBX|12|NM|45200-3^Dodecenoylcarnitine (C12:1)^LN|1|0.5|µmol/L||N|||F|||20240226034304 OBX|13|NM|53192-1^Tetradecanoylcarnitine (C14)^LN|1|0.6|µmol/L|<1.2|N|||F|||20240226034304 OBX|14|NM|53191-3^Tetradecenoylcarnitine (C14:1)^LN|1|0.4|µmol/L|<0.9|N|||F|||20240226034304 OBX|15|NM|53194-7^Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1)^LN|1|0.5|{Ratio}||N|||F|||20240226034304 OBX|16|NM|53190-5^Tetradecadienoylcarnitine (C14:2)^LN|1|0.5|µmol/L||N|||F|||20240226034304 OBX|17|NM|50281-5^3-Hydroxytetradecanoylcarnitine (C14-OH)^LN|1|0.1|µmol/L|<0.2|N|||F|||20240226034304 OBX|18|NM|53199-6^Palmitoylcarnitine (C16)^LN|1|5|µmol/L|<12|N|||F|||20240226034304 OBX|19|NM|53198-8^Palmitoleylcarnitine (C16:1)^LN|1|0.7|µmol/L|<1.4|N|||F|||20240226034304 OBX|20|NM|50125-4^3-Hydroxypalmitoylcarnitine (C16-OH)^LN|1|0.05|µmol/L|<0.1|N|||F|||20240226034304 OBX|21|NM|53201-0^3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16)^LN|1|0.01000|{Ratio}|<0.07|N|||F|||20240226034304 OBX|22|NM|53241-6^Stearoylcarnitine (C18)^LN|1|2|µmol/L|<3.5|N|||F|||20240226034304 OBX|23|NM|53202-8^Oleoylcarnitine (C18:1)^LN|1|3.5|µmol/L|<7|N|||F|||20240226034304 OBX|24|NM|45217-7^Linoleoylcarnitine (C18:2)^LN|1|0.5|µmol/L||N|||F|||20240226034304 OBX|25|NM|50132-0^3-Hydroxystearoylcarnitine (C18-OH)^LN|1|0.05|µmol/L|<0.1|N|||F|||20240226034304 OBX|26|NM|50113-0^3-Hydroxyoleoylcarnitine (C18:1-OH)^LN|1|0.05|µmol/L|<0.1|N|||F|||20240226034304 OBR|8|7181233072^FormNumber||57085-3^Organic acid newborn screen panel|||202402131546|||||||||^JOHNSON^KATHRYN||||||20240226034304|||F OBX|1|NM|53160-8^Propionylcarnitine (C3)^LN|1|3.15|µmol/L|<7.9|N|||F|||20240226034304 OBX|2|NM|53163-2^Propionylcarnitine (C3)/Acetylcarnitine (C2)^LN|1|0.15|{Ratio}|<0.42|N|||F|||20240226034304 OBX|3|NM|67708-8^Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)^LN|1|0.2|µmol/L|<0.48|N|||F|||20240226034304 OBX|4|NM|53166-5^Butyrylcarnitine+Isobutyrylcarnitine (C4)^LN|1|0.85|µmol/L|<1.7|N|||F|||20240226034304 OBX|5|NM|45216-9^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)^LN|1|0.5|µmol/L|<0.95|N|||F|||20240226034304 OBX|6|NM|53240-8^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3)^LN|1|0.15873|{Ratio}|<0.38|N|||F|||20240226034304 OBX|7|NM|53170-7^Tiglylcarnitine (C5:1)^LN|1|0.3|µmol/L|<0.5|N|||F|||20240226034304 OBX|8|NM|50106-4^3-Hydroxyisovalerylcarnitine (C5-OH)^LN|1|0.45|µmol/L|<1.15|N|||F|||20240226034304 OBX|9|NM|67710-4^Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)^LN|1|0.3|µmol/L|<0.38|N|||F|||20240226034304 OBX|10|NM|75216-2^Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in Dried blood spot^LN|1|1.50000|{Ratio}|>0.1|N|||F|||20240226034304 OBR|9|7181233072^FormNumber||54078-1^Cystic fibrosis newborn screening panel|||202402131546|||||||||^JOHNSON^KATHRYN||||||20240226034304|||F OBX|1|NM|48633-2^Trypsinogen I.free^LN|1|31.00|ng/mL|<71|N|||F|||20240226034304 OBX|2|CE|46769-6^Cystic fibrosis newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20240226034304 OBX|3|TX|57707-2^Cystic fibrosis newborn screening comment/discussion^LN|1|Negative|||N|||F|||20240226034304 OBR|10|7181233072^FormNumber||57086-1^Congenital adrenal hyperplasia newborn screening panel|||202402131546|||||||||^JOHNSON^KATHRYN||||||20240226034304|||F OBX|1|NM|38473-5^17-Hydroxyprogesterone^LN|1|35|nmol/L|<85|N|||F|||20240226034304 OBX|2|CE|46758-9^Congenital adrenal hyperplasia newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20240226034304 OBX|3|TX|57706-4^Congenital adrenal hyperplasia newborn screening comment-discussion^LN|1|Negative|||N|||F|||20240226034304 OBR|11|7181233072^FormNumber||54090-6^Thyroid newborn screening panel|||202402131546|||||||||^JOHNSON^KATHRYN||||||20240226034304|||F OBX|1|NM|29575-8^Thyrotropin^LN|1|14.50|mIU/L|<29|N|||F|||20240226034304 OBX|2|CE|46762-1^Congenital hypothyroidism newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20240226034304 OBX|3|TX|57705-6^Congenital hypothyroidism newborn screening comment-discussion^LN|1|Negative|||N|||F|||20240226034304 OBR|12|7181233072^FormNumber||54079-9^Galactosemia newborn screening panel|||202402131546|||||||||^JOHNSON^KATHRYN||||||20240226034304|||F OBX|1|NM|42906-8^Galactose 1 phosphate uridyl transferase^LN|1|55.00|enzyme units|>50|N|||F|||20240226034304 OBX|2|CE|46737-3^Galactosemias newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20240226034304 OBX|3|TX|57704-9^Galactosemias newborn screening comment-discussion^LN|1|Negative|||N|||F|||20240226034304 OBR|13|7181233072^FormNumber||54081-5^Hemoglobinopathies newborn screening panel|||202402131546|||||||||^JOHNSON^KATHRYN||||||20240226034304|||F OBX|1|TX|54104-5^Hemoglobin pattern^LN|1|FA||||||F|||20240226034304 OBX|2|TX|57703-1^Hemoglobin disorders newborn screening comment/discussion^LN|1|Usual hemoglobin pattern. These results assume no transfusion prior to testing and do not rule out the possibility of a thalassemia trait or rare hemoglobin variants.||||||F|||20240226034304 OBR|14|7181233072^FormNumber||57087-9^Biotinidase newborn screening panel|||202402131546|||||||||^JOHNSON^KATHRYN||||||20240226034304|||F OBX|1|NM|75217-0^Biotinidase [Enzymatic activity/volume] in Dried blood spot^LN|1|15.00|ERU|>10|N|||F|||20240226034304 OBX|2|CE|46761-3^Biotinidase deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20240226034304 OBX|3|TX|57699-1^Biotinidase deficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20240226034304 OBR|15|7181233072^FormNumber||62333-0^Severe combined immunodeficiency (SCID) newborn screening panel|||202402131546|||||||||^JOHNSON^KATHRYN||||||20240226034304|||F OBX|1|NM|62320-7^T-cell receptor excision circle [#/volume] in Dried blood spot by Probe and target amplification method^LN|1|33|copies/µL|>18|N|||F|||20240226034304 OBX|2|CE|62321-5^Severe combined immunodeficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20240226034304 OBX|3|TX|62322-3^Severe combined immunodeficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20240226034304 OBR|16|7181233072^FormNumber||63414-7^Pompe Disease newborn screening panel|||202402131546|||||||||^JOHNSON^KATHRYN||||||20240226034304|||F OBX|1|NM|55827-0^Acid alpha glucosidase [Enzymatic activity/volume] in DBS^LN|1|12.923|µmol/L/h|>=2.079|N|||F|||20240226034304 OBX|2|CE|63415-4^Pompe Disease deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20240226034304 OBX|3|TX|63416-2^Pompe Disease deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20240226034304 OBX|4|TX|63416-2^Pompe Disease deficiency newborn screening comments-discussion^LN|2|Interpretation Comments: The acid alpha-glucosidase Enzyme activity level is above the 18% of the daily patient median and suggests it is screen negative for Pompe disease.|||N|||F|||20240226034304 OBR|17|7181233072^FormNumber||79563-3^Mucopolysaccharidosis type I newborn screening panel|||202402131546|||||||||^JOHNSON^KATHRYN||||||20240226034304|||F OBX|1|NM|55909-6^Alpha-L-iduronidase [Enzymatic activity/volume] in DBS^LN|1|3.117|µmol/L/h|>=1.2204|N|||F|||20240226034304 OBX|2|CE|79564-1^Mucopolysaccharidosis type I newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20240226034304 OBX|3|TX|79565-8^Mucopolysaccharidosis type I newborn screening comment-discussion^LN|1|Negative|||N|||F|||20240226034304 OBX|4|TX|79565-8^Mucopolysaccharidosis type I newborn screening comment-discussion^LN|2|Interpretation Comments: The alpha-L-iduronidase Enzyme activity is above the 18% of the daily patient median and suggests it is screen negative for Mucopolysaccharidosis I (MPS I) disease.|||N|||F|||20240226034304 OBR|18|7181233072^FormNumber||92005-8^Spinal muscular atrophy newborn screening panel|||202402131546|||||||||^JOHNSON^KATHRYN||||||20240226034304|||F OBX|1|TX|^^^99717-60^SMN1 Homozygous Deletion Analysis^L|1|Exon 7 Absent||Exon 7 Present|A|||F|||20240226034304 OBX|2|CE|92004-1^Spinal muscular atrophy newborn screen interpretation^LN|1|LA18593-6^Out of range^LN|||A|||F|||20240226034304 OBX|3|TX|92003-3^Spinal muscular atrophy newborn screening comment-discussion^LN|1|SMA Positive|||A|||F|||20240226034304 OBX|4|TX|92003-3^Spinal muscular atrophy newborn screening comment-discussion^LN|2|Interpretation Comments: qPCR detected possible homozygoues deletion in exon 7 of the SMN1 gene. Confirmatory test for SMN1 and SMN2 copy determination are required.|||A|||F|||20240226034304 OBR|19|7181233072^FormNumber||^^^99717-28^Adrenoleukodystrophy newborn screening panel^L|||202402131546|||||||||^JOHNSON^KATHRYN||||||20240226034304|||F OBX|1|CE|^^^99717-32^Adrenoleukodystrophy deficiency newborn screening interpretation^L|1|LA18592-8^In range^LN|||N|||F|||20240226034304 OBX|2|TX|^^^99717-33^Adrenoleukodystrophy deficiency newborn screening comments-discussion^L|1|Negative|||N|||F|||20240226034304 OBR|20|7181233072^FormNumber||^^^99717-29^Adrenoleukodystrophy Tier-1 newborn screening panel^L|||202402131546|||||||||^JOHNSON^KATHRYN||||||20240226034304|||F OBX|1|NM|79321-6^Lysophosphatidylcholine(26:0) [Moles/volume] in Dried blood spot^LN|1|0.2|µmol/L|<0.49|N|||F|||20240226034304 +MSH|^~\&|SISGDSP|SISGDSP|SISHIERECEIVER^11903029^L,M,N|^^L,M,N|20240226034304||ORU^R01^ORU_R01|243408836|T|2.5.1 +PID|1||80008836^^^&NPI^MR||CDPHSIX^BOY MOMSIX^^^^^B|||M||2106-3^White||||||||||||2186-5^Not Hispanic or Latino||N|1 +NK1|1|CDPHSIX|MTH^Mother|132 ST^^SAN DIEGO^CA^92126^USA +ORC|RE|7181233072^FormNumber||189430284^HospOrdNumber||||||||^ROSEN^REBECCA|||||||||UCSD JACOBS MEDICAL CENTER^^^^^^^^^R797| 2961DR YLLUT^^SAN DIEGO^CA^99999-9999 +OBR|1|7181233072^FormNumber||54089-8^NB Screen Panel Patient AHIC|||202402131546|||||||||^JOHNSON^KATHRYN||||||20240226034304|||F +OBR|2|7181233072^FormNumber||57128-1^Newborn Screening Report summary panel|||202402131546|||||||||^JOHNSON^KATHRYN||||||20240226034304|||F +OBX|1|CE|57721-3^Reason for lab test in Dried blood spot^LN|1|LA12421-6^Initial screen^LN|||N|||F|||20240226034304 +OBX|2|CE|57718-9^Sample quality of Dried blood spot^LN|1|LA12432-3^Acceptable^LN|||N|||F|||20240226034304 +OBX|3|CE|57130-7^Newborn screening report - overall interpretation^LN|1|LA18944-1^Screen is out of range for at least one condition^LN|||N|||F|||20240226034304 +OBX|4|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|1|LA22279-6^SMA^LN|||N|||F|||20240226034304 +OBX|5|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20240226034304 +OBX|6|TX|57724-7^Newborn screening short narrative summary^LN|1|ACTION REQUIRED\.br\\.br\NBS Testing Lab - COMMUNITY REG MEDICAL CENTER LAB \R\M 57752YWKP NAEBC, ETS8021 , FRESNO, CA 99999\.br\\.br\Genetic Disease Laboratory - GDL SAW 19221DVLB NOTGNIH, RICHMOND, CA 99999-9999\.br\\.br\Lab Director - Genetic Disease Laboratory, (510) 231-1790\.br\\.br\Follow-up:\.br\\.br\Amino Acid Panel: There was insufficient data to determine whether or not this newborn was at least 12 hours old when this specimen was collected. Testing of amino acids at less than 12 hours of age is not reliable for detecting certain metabolic disorder. \.br\\.br\Spinal Muscular Atrophy (SMA): An immediate referral to a CCS-approved Neuromuscular Center for evaluation and additional testing is strongly recommended due an apparent SMN1 exon 7 homozygous deletion. \.br\\.br\If you have any questions regarding these screening outcomes, please contact the Newborn Screening Staff at Rady Children's Hospital San Diego at (161) 122-8708. \.br\\.br\Methods and Limitations:\.br\\.br\Assays for ALD Tier-1, BD, CAH, CF, GAL, MS/MS Acylcarnitine and Amino Acid Panels, PCH, hemoglobinopathies, and SCID were performed at the testing laboratory specified on the front of this report. Assays for ALD Tier-2, CAH Tier-2, Pompe Disease Tier-1, MPS I Tier-1, and SMA were developed and/or optimized by the Genetic Disease Laboratory (GDL), and performed at GDL. Performance characteristics of these assays are determined by GDL. The SMA assay is designed to identify 95% of SMA patients who have homozygous deletions of the SMN1 gene on chromosome 5q. These assays have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. The assays are used for clinical purposes. They should not be regarded as investigational or for research. GDL is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) to perform high complexity genetic disease screening. \.br\Attention Healthcare Provider:\.br\\.br\Due to biological variability of newborns and differences in detection rates for the various disorders in the newborn period, the Newborn Screening Program will not identify all newborns with these conditions. While a positive screening result identifies newborns at an increased risk to justify a diagnostic work-up, a negative screening result does not rule out the possibility of a disorder. Health care providers should remain watchful for any sign or symptoms of these disorders in their patients. A newborn screening result should not be considered diagnostic, and cannot replace the individualized evaluation and diagnosis of an infant by a well-trained, knowledgeable health care provider. \.br\\.br\|||N|||F|||20240226034304 +OBX|7|TX|57129-9^Full newborn screening summary report for display or printing^LN|1||||N|||F|||20240226034304 +OBX|8|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|1|LA22279-6^SMA^LN|||N|||F|||20240226034304 +OBX|9|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|2|LA25796-6^X-ALD^LN|||N|||F|||20240226034304 +OBX|10|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|3|LA14037-8^GAA^LN|||N|||F|||20240226034304 +OBX|11|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|4|LA25797-4^MPS-I^LN|||N|||F|||20240226034304 +OBX|12|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|5|LA12466-1^3-MCC^LN|||N|||F|||20240226034304 +OBX|13|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|6|LA12468-7^3MGA^LN|||N|||F|||20240226034304 +OBX|14|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|7|LA12469-5^5-OXO^LN|||N|||F|||20240226034304 +OBX|15|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|8|LA12470-3^ARG^LN|||N|||F|||20240226034304 +OBX|16|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|9|LA12482-8^CIT-I^LN|||N|||F|||20240226034304 +OBX|17|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|10|LA12483-6^CIT-II^LN|||N|||F|||20240226034304 +OBX|18|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|11|LA12485-1^CPT-Ia^LN|||N|||F|||20240226034304 +OBX|19|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|12|LA12486-9^CPT-II^LN|||N|||F|||20240226034304 +OBX|20|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|13|LA12493-5^GA-1^LN|||N|||F|||20240226034304 +OBX|21|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|14|LA12495-0^GA-2^LN|||N|||F|||20240226034304 +OBX|22|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|15|LA12497-6^HHH^LN|||N|||F|||20240226034304 +OBX|23|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|16|LA12499-2^HMG^LN|||N|||F|||20240226034304 +OBX|24|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|17|LA12505-6^IVA^LN|||N|||F|||20240226034304 +OBX|25|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|18|LA12507-2^LCHAD^LN|||N|||F|||20240226034304 +OBX|26|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|19|LA12508-0^MAL^LN|||N|||F|||20240226034304 +OBX|27|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|20|LA12509-8^MCAD^LN|||N|||F|||20240226034304 +OBX|28|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|21|LA12510-6^MCD^LN|||N|||F|||20240226034304 +OBX|29|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|22|LA12512-2^MET^LN|||N|||F|||20240226034304 +OBX|30|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|23|LA12513-0^MSUD^LN|||N|||F|||20240226034304 +OBX|31|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|24|LA12516-3^NKHG^LN|||N|||F|||20240226034304 +OBX|32|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|25|LA12520-5^PKU^LN|||N|||F|||20240226034304 +OBX|33|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|26|LA12521-3^PRO I^LN|||N|||F|||20240226034304 +OBX|34|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|27|LA12528-8^TYR-1^LN|||N|||F|||20240226034304 +OBX|35|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|28|LA12529-6^TYR-II^LN|||N|||F|||20240226034304 +OBX|36|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|29|LA12531-2^VLCAD^LN|||N|||F|||20240226034304 +OBX|37|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|30|LA12532-0^BIO^LN|||N|||F|||20240226034304 +OBX|38|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|31|LA12533-8^CAH^LN|||N|||F|||20240226034304 +OBX|39|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|32|LA12537-9^CF^LN|||N|||F|||20240226034304 +OBX|40|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|33|LA12543-7^GALT^LN|||N|||F|||20240226034304 +OBX|41|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|34|LA12566-8^SCID^LN|||N|||F|||20240226034304 +OBX|42|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|35|LA12576-7^SCAD or EMA or IBG or GA-2 (MADD)^LN|||N|||F|||20240226034304 +OBX|43|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|36|LA16207-5^Hemoglobinopathies^LN|||N|||F|||20240226034304 +OBX|44|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|37|99717-3^Hypothyroidism^L|||N|||F|||20240226034304 +OBX|45|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|38|LA12487-7^CUD^LN|||N|||F|||20240226034304 +OBX|46|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|39|LA12474-5^BKT^LN|||N|||F|||20240226034304 +OBX|47|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|40|LA12523-9^PA^LN|||N|||F|||20240226034304 +OBX|48|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|41|LA12515-5^MMA^LN|||N|||F|||20240226034304 +OBX|49|CE|57719-7^Conditions tested for in this newborn screening study [Identifier] in Dried blood spot^LN|42|LA12464-6^2M3HBA^LN|||N|||F|||20240226034304 +OBR|3|7181233072^FormNumber||57717-1^Newborn screen card data panel|||202402131546|||||||||^JOHNSON^KATHRYN||||||20240226034304|||F +OBX|1|ST|57716-3^State printed on filter paper card [Identifier] in NBS card^LN|1|CA|||N|||F|||20240226034304 +OBX|2|NM|8339-4^Birthweight^LN|1|3000|grams||N|||F|||20240226034304 +OBX|3|CE|57722-1^Birth plurality of Pregnancy^LN|1|LA12411-7^Singleton^LN|||N|||F|||20240226034304 +OBX|4|CE|57713-0^Infant NICU factors that affect newborn screening interpretation^LN|1|LA137-2^None^LN|||N|||F|||20240226034304 +OBX|5|CE|67704-7^Feeding types^LN|1|LA16914-6^Breast milk^LN|||N|||F|||20240226034304 +OBX|6|TX|^^^99717-5^Accession Number^L|1|045-89-477/21-2024-21|||N|||F|||20240226034304 +OBX|7|TX|62324-9^Post-discharge provider name^LN|1|REBECCA ROSEN|||N|||F|||20240226034304 +OBX|8|TX|62327-2^Post-discharge provider practice address^LN|1|2961DR YLLUT SAN DIEGO CA 99999-9999 USA|||N|||F|||20240226034304 +OBR|4|7181233072^FormNumber||57794-0^Newborn screening test results panel in Dried blood spot|||202402131546|||||||||^JOHNSON^KATHRYN||||||20240226034304|||F +OBR|5|7181233072^FormNumber||53261-4^Amino acid newborn screen panel|||202402131546|||||||||^JOHNSON^KATHRYN||||||20240226034304|||F +OBX|1|NM|47633-3^Glycine [Moles/volume] in Dried blood spot^LN|1|0.5|µmol/L||N|||F|||20240226034304 +OBX|2|NM|53150-9^Alanine+Beta Alanine+Sarcosine [Moles/volume] in Dried blood spot^LN|1|500|µmol/L|<1000|N|||F|||20240226034304 +OBX|3|NM|47799-2^Valine [Moles/volume] in Dried blood spot^LN|1|0.5|µmol/L||N|||F|||20240226034304 +OBX|4|NM|53151-7^Valine/Phenylalanine [Molar ratio] in Dried blood spot^LN|1|0.00645|{Ratio}|<4.3|N|||F|||20240226034304 +OBX|5|NM|53152-5^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline^LN|1|125|µmol/L|<230|N|||F|||20240226034304 +OBX|6|NM|53154-1^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in Dried blood spot^LN|1|0.65|{Ratio}|<1.35|N|||F|||20240226034304 +OBX|7|NM|29573-3^Phenylalanine [Moles/volume] in Dried blood spot^LN|1|77.5|µmol/L|<175|N|||F|||20240226034304 +OBX|8|NM|35572-7^Phenylalanine/Tyrosine [Molar ratio] in Dried blood spot^LN|1|0.75|{Ratio}|<2.6|N|||F|||20240226034304 +OBX|9|NM|35571-9^Tyrosine [Moles/volume] in Dried blood spot^LN|1|425|µmol/L|<680|N|||F|||20240226034304 +OBX|10|NM|53231-7^Succinylacetone [Moles/volume] in Dried blood spot^LN|1|2.25|µmol/L|<6.1|N|||F|||20240226034304 +OBX|11|NM|47700-0^Methionine [Moles/volume] in Dried blood spot^LN|1|27|µmol/L|6.3-100|N|||F|||20240226034304 +OBX|12|NM|42892-0^Citrulline [Moles/volume] in Dried blood spot^LN|1|16.25|µmol/L|5-49|N|||F|||20240226034304 +OBX|13|NM|54092-2^Citrulline/Arginine [Molar ratio] in Dried blood spot^LN|1|3|{Ratio}|<4.8|N|||F|||20240226034304 +OBX|14|NM|53155-8^Asparagine+Ornithine [Moles/volume] in Dried blood spot^LN|1|400|µmol/L|<800|N|||F|||20240226034304 +OBX|15|NM|75215-4^Ornithine/Citrulline [Molar ratio] in Dried blood spot^LN|1|0.5|{Ratio}||N|||F|||20240226034304 +OBX|16|NM|47562-4^Arginine [Moles/volume] in Dried blood spot^LN|1|25|µmol/L|<63|N|||F|||20240226034304 +OBX|17|NM|75214-7^Arginine/Ornithine [Molar ratio] in Dried blood spot^LN|1|0.7|{Ratio}|<1.9|N|||F|||20240226034304 +OBX|18|NM|47732-3^Proline [Moles/volume] in Dried blood spot^LN|1|750|µmol/L|<1500|N|||F|||20240226034304 +OBX|19|TX|57710-6^Amino acidemias newborn screening comment/discussion^LN|1|Collected Early. No Interpretation.|||A|||F|||20240226034304 +OBR|6|7181233072^FormNumber||58092-8^Acylcarnitine newborn screen panel|||202402131546|||||||||^JOHNSON^KATHRYN||||||20240226034304|||F +OBX|1|CE|58088-6^Acylcarnitine newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20240226034304 +OBX|2|TX|58093-6^Acylcarnitine newborn screening comment/discussion^LN|1|Negative|||N|||F|||20240226034304 +OBR|7|7181233072^FormNumber||57084-6^Fatty acid oxidation newborn screen panel|||202402131546|||||||||^JOHNSON^KATHRYN||||||20240226034304|||F +OBX|1|NM|38481-8^Carnitine.free (C0)^LN|1|33|µmol/L|6.4-125|N|||F|||20240226034304 +OBX|2|NM|53235-8^Carnitine.free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18)^LN|1|37.5|{Ratio}|<70|N|||F|||20240226034304 +OBX|3|NM|50157-7^Acetylcarnitine (C2)^LN|1|20.38|µmol/L|10-80|N|||F|||20240226034304 +OBX|4|NM|75212-1^Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in Dried blood spot^LN|1|0.62500|{Ratio}|<7.6|N|||F|||20240226034304 +OBX|5|NM|45211-0^Hexanoylcarnitine (C6)^LN|1|0.48|µmol/L|<0.95|N|||F|||20240226034304 +OBX|6|NM|53175-6^Octanoylcarnitine (C8)^LN|1|0.3|µmol/L|<0.45|N|||F|||20240226034304 +OBX|7|NM|53177-2^Octanoylcarnitine (C8)/Decanoylcarnitine (C10)^LN|1|0.5|{Ratio}||N|||F|||20240226034304 +OBX|8|NM|53174-9^Octenoylcarnitine (C8:1)^LN|1|0.35|µmol/L|<0.65|N|||F|||20240226034304 +OBX|9|NM|45197-1^Decanoylcarnitine (C10)^LN|1|0.32|µmol/L|<0.65|N|||F|||20240226034304 +OBX|10|NM|45198-9^Decenoylcarnitine (C10:1)^LN|1|0.22|µmol/L|<0.45|N|||F|||20240226034304 +OBX|11|NM|45199-7^Dodecanoylcarnitine (C12)^LN|1|1|µmol/L|<2|N|||F|||20240226034304 +OBX|12|NM|45200-3^Dodecenoylcarnitine (C12:1)^LN|1|0.5|µmol/L||N|||F|||20240226034304 +OBX|13|NM|53192-1^Tetradecanoylcarnitine (C14)^LN|1|0.6|µmol/L|<1.2|N|||F|||20240226034304 +OBX|14|NM|53191-3^Tetradecenoylcarnitine (C14:1)^LN|1|0.4|µmol/L|<0.9|N|||F|||20240226034304 +OBX|15|NM|53194-7^Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1)^LN|1|0.5|{Ratio}||N|||F|||20240226034304 +OBX|16|NM|53190-5^Tetradecadienoylcarnitine (C14:2)^LN|1|0.5|µmol/L||N|||F|||20240226034304 +OBX|17|NM|50281-5^3-Hydroxytetradecanoylcarnitine (C14-OH)^LN|1|0.1|µmol/L|<0.2|N|||F|||20240226034304 +OBX|18|NM|53199-6^Palmitoylcarnitine (C16)^LN|1|5|µmol/L|<12|N|||F|||20240226034304 +OBX|19|NM|53198-8^Palmitoleylcarnitine (C16:1)^LN|1|0.7|µmol/L|<1.4|N|||F|||20240226034304 +OBX|20|NM|50125-4^3-Hydroxypalmitoylcarnitine (C16-OH)^LN|1|0.05|µmol/L|<0.1|N|||F|||20240226034304 +OBX|21|NM|53201-0^3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16)^LN|1|0.01000|{Ratio}|<0.07|N|||F|||20240226034304 +OBX|22|NM|53241-6^Stearoylcarnitine (C18)^LN|1|2|µmol/L|<3.5|N|||F|||20240226034304 +OBX|23|NM|53202-8^Oleoylcarnitine (C18:1)^LN|1|3.5|µmol/L|<7|N|||F|||20240226034304 +OBX|24|NM|45217-7^Linoleoylcarnitine (C18:2)^LN|1|0.5|µmol/L||N|||F|||20240226034304 +OBX|25|NM|50132-0^3-Hydroxystearoylcarnitine (C18-OH)^LN|1|0.05|µmol/L|<0.1|N|||F|||20240226034304 +OBX|26|NM|50113-0^3-Hydroxyoleoylcarnitine (C18:1-OH)^LN|1|0.05|µmol/L|<0.1|N|||F|||20240226034304 +OBR|8|7181233072^FormNumber||57085-3^Organic acid newborn screen panel|||202402131546|||||||||^JOHNSON^KATHRYN||||||20240226034304|||F +OBX|1|NM|53160-8^Propionylcarnitine (C3)^LN|1|3.15|µmol/L|<7.9|N|||F|||20240226034304 +OBX|2|NM|53163-2^Propionylcarnitine (C3)/Acetylcarnitine (C2)^LN|1|0.15|{Ratio}|<0.42|N|||F|||20240226034304 +OBX|3|NM|67708-8^Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)^LN|1|0.2|µmol/L|<0.48|N|||F|||20240226034304 +OBX|4|NM|53166-5^Butyrylcarnitine+Isobutyrylcarnitine (C4)^LN|1|0.85|µmol/L|<1.7|N|||F|||20240226034304 +OBX|5|NM|45216-9^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)^LN|1|0.5|µmol/L|<0.95|N|||F|||20240226034304 +OBX|6|NM|53240-8^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3)^LN|1|0.15873|{Ratio}|<0.38|N|||F|||20240226034304 +OBX|7|NM|53170-7^Tiglylcarnitine (C5:1)^LN|1|0.3|µmol/L|<0.5|N|||F|||20240226034304 +OBX|8|NM|50106-4^3-Hydroxyisovalerylcarnitine (C5-OH)^LN|1|0.45|µmol/L|<1.15|N|||F|||20240226034304 +OBX|9|NM|67710-4^Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)^LN|1|0.3|µmol/L|<0.38|N|||F|||20240226034304 +OBX|10|NM|75216-2^Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in Dried blood spot^LN|1|1.50000|{Ratio}|>0.1|N|||F|||20240226034304 +OBR|9|7181233072^FormNumber||54078-1^Cystic fibrosis newborn screening panel|||202402131546|||||||||^JOHNSON^KATHRYN||||||20240226034304|||F +OBX|1|NM|48633-2^Trypsinogen I.free^LN|1|31.00|ng/mL|<71|N|||F|||20240226034304 +OBX|2|CE|46769-6^Cystic fibrosis newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20240226034304 +OBX|3|TX|57707-2^Cystic fibrosis newborn screening comment/discussion^LN|1|Negative|||N|||F|||20240226034304 +OBR|10|7181233072^FormNumber||57086-1^Congenital adrenal hyperplasia newborn screening panel|||202402131546|||||||||^JOHNSON^KATHRYN||||||20240226034304|||F +OBX|1|NM|38473-5^17-Hydroxyprogesterone^LN|1|35|nmol/L|<85|N|||F|||20240226034304 +OBX|2|CE|46758-9^Congenital adrenal hyperplasia newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20240226034304 +OBX|3|TX|57706-4^Congenital adrenal hyperplasia newborn screening comment-discussion^LN|1|Negative|||N|||F|||20240226034304 +OBR|11|7181233072^FormNumber||54090-6^Thyroid newborn screening panel|||202402131546|||||||||^JOHNSON^KATHRYN||||||20240226034304|||F +OBX|1|NM|29575-8^Thyrotropin^LN|1|14.50|mIU/L|<29|N|||F|||20240226034304 +OBX|2|CE|46762-1^Congenital hypothyroidism newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20240226034304 +OBX|3|TX|57705-6^Congenital hypothyroidism newborn screening comment-discussion^LN|1|Negative|||N|||F|||20240226034304 +OBR|12|7181233072^FormNumber||54079-9^Galactosemia newborn screening panel|||202402131546|||||||||^JOHNSON^KATHRYN||||||20240226034304|||F +OBX|1|NM|42906-8^Galactose 1 phosphate uridyl transferase^LN|1|55.00|enzyme units|>50|N|||F|||20240226034304 +OBX|2|CE|46737-3^Galactosemias newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20240226034304 +OBX|3|TX|57704-9^Galactosemias newborn screening comment-discussion^LN|1|Negative|||N|||F|||20240226034304 +OBR|13|7181233072^FormNumber||54081-5^Hemoglobinopathies newborn screening panel|||202402131546|||||||||^JOHNSON^KATHRYN||||||20240226034304|||F +OBX|1|TX|54104-5^Hemoglobin pattern^LN|1|FA||||||F|||20240226034304 +OBX|2|TX|57703-1^Hemoglobin disorders newborn screening comment/discussion^LN|1|Usual hemoglobin pattern.†These results assume no transfusion prior to testing and do not rule out the possibility of a thalassemia trait or rare hemoglobin variants.||||||F|||20240226034304 +OBR|14|7181233072^FormNumber||57087-9^Biotinidase newborn screening panel|||202402131546|||||||||^JOHNSON^KATHRYN||||||20240226034304|||F +OBX|1|NM|75217-0^Biotinidase [Enzymatic activity/volume] in Dried blood spot^LN|1|15.00|ERU|>10|N|||F|||20240226034304 +OBX|2|CE|46761-3^Biotinidase deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20240226034304 +OBX|3|TX|57699-1^Biotinidase deficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20240226034304 +OBR|15|7181233072^FormNumber||62333-0^Severe combined immunodeficiency (SCID) newborn screening panel|||202402131546|||||||||^JOHNSON^KATHRYN||||||20240226034304|||F +OBX|1|NM|62320-7^T-cell receptor excision circle [#/volume] in Dried blood spot by Probe and target amplification method^LN|1|33|copies/µL|>18|N|||F|||20240226034304 +OBX|2|CE|62321-5^Severe combined immunodeficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20240226034304 +OBX|3|TX|62322-3^Severe combined immunodeficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20240226034304 +OBR|16|7181233072^FormNumber||63414-7^Pompe Disease newborn screening panel|||202402131546|||||||||^JOHNSON^KATHRYN||||||20240226034304|||F +OBX|1|NM|55827-0^Acid alpha glucosidase [Enzymatic activity/volume] in DBS^LN|1|12.923|µmol/L/h|>=2.079|N|||F|||20240226034304 +OBX|2|CE|63415-4^Pompe Disease deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20240226034304 +OBX|3|TX|63416-2^Pompe Disease deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20240226034304 +OBX|4|TX|63416-2^Pompe Disease deficiency newborn screening comments-discussion^LN|2|Interpretation Comments: The acid alpha-glucosidase Enzyme activity level is above the 18% of the daily patient median and suggests it is screen negative for Pompe disease.|||N|||F|||20240226034304 +OBR|17|7181233072^FormNumber||79563-3^Mucopolysaccharidosis type I newborn screening panel|||202402131546|||||||||^JOHNSON^KATHRYN||||||20240226034304|||F +OBX|1|NM|55909-6^Alpha-L-iduronidase [Enzymatic activity/volume] in DBS^LN|1|3.117|µmol/L/h|>=1.2204|N|||F|||20240226034304 +OBX|2|CE|79564-1^Mucopolysaccharidosis type I newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20240226034304 +OBX|3|TX|79565-8^Mucopolysaccharidosis type I newborn screening comment-discussion^LN|1|Negative|||N|||F|||20240226034304 +OBX|4|TX|79565-8^Mucopolysaccharidosis type I newborn screening comment-discussion^LN|2|Interpretation Comments: The alpha-L-iduronidase Enzyme activity is above the 18% of the daily patient median and suggests it is screen negative for Mucopolysaccharidosis I (MPS I) disease.|||N|||F|||20240226034304 +OBR|18|7181233072^FormNumber||92005-8^Spinal muscular atrophy newborn screening panel|||202402131546|||||||||^JOHNSON^KATHRYN||||||20240226034304|||F +OBX|1|TX|^^^99717-60^SMN1 Homozygous Deletion Analysis^L|1|Exon 7 Absent||Exon 7 Present|A|||F|||20240226034304 +OBX|2|CE|92004-1^Spinal muscular atrophy newborn screen interpretation^LN|1|LA18593-6^Out of range^LN|||A|||F|||20240226034304 +OBX|3|TX|92003-3^Spinal muscular atrophy newborn screening comment-discussion^LN|1|SMA Positive|||A|||F|||20240226034304 +OBX|4|TX|92003-3^Spinal muscular atrophy newborn screening comment-discussion^LN|2|Interpretation Comments: qPCR detected possible homozygoues deletion in exon 7 of the SMN1 gene. Confirmatory test for SMN1 and SMN2 copy determination are required.|||A|||F|||20240226034304 +OBR|19|7181233072^FormNumber||^^^99717-28^Adrenoleukodystrophy newborn screening panel^L|||202402131546|||||||||^JOHNSON^KATHRYN||||||20240226034304|||F +OBX|1|CE|^^^99717-32^Adrenoleukodystrophy deficiency newborn screening interpretation^L|1|LA18592-8^In range^LN|||N|||F|||20240226034304 +OBX|2|TX|^^^99717-33^Adrenoleukodystrophy deficiency newborn screening comments-discussion^L|1|Negative|||N|||F|||20240226034304 +OBR|20|7181233072^FormNumber||^^^99717-29^Adrenoleukodystrophy Tier-1 newborn screening panel^L|||202402131546|||||||||^JOHNSON^KATHRYN||||||20240226034304|||F +OBX|1|NM|79321-6^Lysophosphatidylcholine(26:0) [Moles/volume] in Dried blood spot^LN|1|0.2|µmol/L|<0.49|N|||F|||20240226034304