diff --git a/examples/Test/Automated/GoldenCopy/Expected/001_CA_ORU_R01_CDPH_UCSD_189688314_pre_TI_TC_004_expected.hl7 b/examples/Test/Automated/GoldenCopy/Expected/001_CA_ORU_R01_CDPH_UCSD_189688314_pre_TI_TC_004_expected.hl7 index 1103532ad..050386ea7 100644 --- a/examples/Test/Automated/GoldenCopy/Expected/001_CA_ORU_R01_CDPH_UCSD_189688314_pre_TI_TC_004_expected.hl7 +++ b/examples/Test/Automated/GoldenCopy/Expected/001_CA_ORU_R01_CDPH_UCSD_189688314_pre_TI_TC_004_expected.hl7 @@ -1 +1 @@ -MSH|^~\&|GOLDEN-COPY|CDPH|EPIC|R797|20241015054631||ORU^R01|001|N|2.5.1 PID|1||80015867||CDPHTWO^GIRL MOMTWO||202410071025|F||2076-8^Native Hawaiian or Other Pacific Islander||||||||||||2186-5^Not Hispanic or Latino||N|1 NK1|1|CDPHTWO^MOMTWO|MTH^Mother|2 SECOND ST^^SAN DIEGO^CA^92121^USA||||||||||||20000202 ORC|RE|189688314^HospOrdNumber||7371237714^FormNumber||||||||1790743185^HUBBARD^EUSTRATIA^^^^^^^^^^NPI|||||||||UCSD JACOBS MEDICAL CENTER^^^^^^^^^R797|AG N 005EVA DLEIFR, F N 0037TERTS ONSER^^SAN DIEGO^CA^99999-9999 OBR|1|189688314^HospOrdNumber||54089-8^NB Screen Panel Patient AHIC^CDPHGSPEAP|||202410081133|||||||||1790743185^HUBBARD^EUSTRATIA^^^^^^^^^^NPI||||||20241015054631|||F OBX|1|CE|57721-3^Reason for lab test in Dried blood spot^LN|1|LA12427-3^Subsequent screen - for clarification of initial results (not by law or protocol)^LN|||N|||F|||20241015054631 OBX|2|CE|57718-9^Sample quality of Dried blood spot^LN|1|LA12432-3^Acceptable^LN|||N|||F|||20241015054631 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|||20241015054631 OBX|4|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|1|LA12543-7^GALT^LN|||N|||F|||20241015054631 OBX|5|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|2|LA12533-8^CAH^LN|||N|||F|||20241015054631 OBX|6|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|1|LA12566-8^SCID^LN|||N|||F|||20241015054631 OBX|7|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|2|LA14037-8^GAA^LN|||N|||F|||20241015054631 OBX|8|TX|57724-7^Newborn screening short narrative summary^LN|1|ACTION REQUIRED\.br\\.br\NBS Testing Lab - COMMUNITY REG MEDICAL CENTER LAB \R\NAR 01303DR OJEIV OHC, TS513 E, FRESNO, CA 99999\.br\\.br\Genetic Disease Laboratory - GDL E 069TS NEERG, RICHMOND, CA 99999-9999\.br\\.br\Lab Director - Genetic Disease Laboratory, (510) 231-1790\.br\\.br\Follow-up:\.br\\.br\CAH: An immediate referral to a CCS endocrine center or pediatric endocrinologist, for evaluation and additional testing, is strongly recommended. \.br\\.br\Pompe: Another dried blood specimen MUST be collected for this child. Call your Newborn Screening Coordinator for assistance. \.br\\.br\SCID: Another dried blood specimen MUST be collected for this child. Call your Newborn Screening Coordinator for assistance. \.br\\.br\Galactosemia: Additional testing is required to rule out disorder.µCall your Newborn Screening Coordinator for assistance. \.br\\.br\ATTENTION: THIS CHILD HAS TESTED POSITIVE FOR MORE THAN ONE TEST. \.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 (126) 411-8708. \.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, GAMT, Pompe Disease Tier-1, MPS I Tier-1, MPS II 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 and differences in detection rates for these disorders in the newborn period, genetic screening will not identify all positive cases. While a positive screening result identifies newborns at risk and justifies 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 signs or symptoms of these disorders in their patients. Screening results are not diagnostic and cannot replace individualized evaluation and diagnosis of an infant from the healthcare provider. Newborn screening specimens collected at greater than 72 hours of age are outside the window of validation for analyte reference intervals and this may affect the accuracy of some screening results. \.br\\.br\|||N|||F|||20241015054631 OBX|9|TX|57129-9^Full newborn screening summary report for display or printing^LN|1||||N|||F|||20241015054631 OBX|10|ST|57716-3^State printed on filter paper card [Identifier] in NBS card^LN|1|CA|||N|||F|||20241015054631 OBX|11|NM|8339-4^Birthweight^LN|1|3175|grams||N|||F|||20241015054631 OBX|12|TM|57715-5^Time of birth^LN|1|1025|||N|||F|||20241015054631 OBX|13|CE|57722-1^Birth plurality of Pregnancy^LN|1|LA12411-7^Singleton^LN|||N|||F|||20241015054631 OBX|14|NM|73806-2^Newborn age in hours^LN|1|25|hour(s)||N|||F|||20241015054631 OBX|15|CE|57713-0^Infant NICU factors that affect newborn screening interpretation^LN|1|LA137-2^None^LN|||N|||F|||20241015054631 OBX|16|CE|67704-7^Feeding types^LN|1|LA4489-6^Unknown^LN|||N|||F|||20241015054631 OBX|17|TX|62324-9^Post-discharge provider name^LN|1|DENISE COYLE|||N|||F|||20241015054631 OBX|18|TX|62327-2^Post-discharge provider practice address^LN|1|AG N 005EVA DLEIFR, F N 0037TERTS ONSER SAN DIEGO CA 99999-9999 USA|||N|||F|||20241015054631 OBX|19|NM|47633-3^Glycine [Moles/volume] in Dried blood spot^LN|1|0.5|µmol/L||N|||F|||20241015054631 OBX|20|NM|53150-9^Alanine+Beta Alanine+Sarcosine [Moles/volume] in Dried blood spot^LN|1|500|µmol/L|<1000|N|||F|||20241015054631 OBX|21|NM|47799-2^Valine [Moles/volume] in Dried blood spot^LN|1|0.5|µmol/L||N|||F|||20241015054631 OBX|22|NM|53151-7^Valine/Phenylalanine [Molar ratio] in Dried blood spot^LN|1|0.00645|{Ratio}|<4.3|N|||F|||20241015054631 OBX|23|NM|53152-5^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline^LN|1|125|µmol/L|<230|N|||F|||20241015054631 OBX|24|NM|53154-1^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in Dried blood spot^LN|1|0.65|{Ratio}|<1.35|N|||F|||20241015054631 OBX|25|NM|29573-3^Phenylalanine [Moles/volume] in Dried blood spot^LN|1|77.5|µmol/L|<175|N|||F|||20241015054631 OBX|26|NM|35572-7^Phenylalanine/Tyrosine [Molar ratio] in Dried blood spot^LN|1|0.75|{Ratio}|<2.6|N|||F|||20241015054631 OBX|27|NM|35571-9^Tyrosine [Moles/volume] in Dried blood spot^LN|1|425|µmol/L|<680|N|||F|||20241015054631 OBX|28|NM|53231-7^Succinylacetone [Moles/volume] in Dried blood spot^LN|1|2.25|µmol/L|<6.1|N|||F|||20241015054631 OBX|29|NM|47700-0^Methionine [Moles/volume] in Dried blood spot^LN|1|27|µmol/L|6.3-100|N|||F|||20241015054631 OBX|30|NM|42892-0^Citrulline [Moles/volume] in Dried blood spot^LN|1|16.25|µmol/L|5-49|N|||F|||20241015054631 OBX|31|NM|54092-2^Citrulline/Arginine [Molar ratio] in Dried blood spot^LN|1|3|{Ratio}|<4.8|N|||F|||20241015054631 OBX|32|NM|53155-8^Asparagine+Ornithine [Moles/volume] in Dried blood spot^LN|1|400|µmol/L|<800|N|||F|||20241015054631 OBX|33|NM|75215-4^Ornithine/Citrulline [Molar ratio] in Dried blood spot^LN|1|0.5|{Ratio}||N|||F|||20241015054631 OBX|34|NM|47562-4^Arginine [Moles/volume] in Dried blood spot^LN|1|25|µmol/L|<63|N|||F|||20241015054631 OBX|35|NM|75214-7^Arginine/Ornithine [Molar ratio] in Dried blood spot^LN|1|0.7|{Ratio}|<1.9|N|||F|||20241015054631 OBX|36|NM|47732-3^Proline [Moles/volume] in Dried blood spot^LN|1|750|µmol/L|<1500|N|||F|||20241015054631 OBX|37|TX|57710-6^Amino acidemias newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241015054631 OBX|38|CE|58088-6^Acylcarnitine newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015054631 OBX|39|TX|58093-6^Acylcarnitine newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241015054631 OBX|40|NM|38481-8^Carnitine.free (C0)^LN|1|33|µmol/L|6.4-125|N|||F|||20241015054631 OBX|41|NM|53235-8^Carnitine.free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18)^LN|1|37.5|{Ratio}|<70|N|||F|||20241015054631 OBX|42|NM|50157-7^Acetylcarnitine (C2)^LN|1|20.38|µmol/L|10-80|N|||F|||20241015054631 OBX|43|NM|75212-1^Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in Dried blood spot^LN|1|0.62500|{Ratio}|<7.6|N|||F|||20241015054631 OBX|44|NM|45211-0^Hexanoylcarnitine (C6)^LN|1|0.48|µmol/L|<0.95|N|||F|||20241015054631 OBX|45|NM|53175-6^Octanoylcarnitine (C8)^LN|1|0.3|µmol/L|<0.45|N|||F|||20241015054631 OBX|46|NM|53177-2^Octanoylcarnitine (C8)/Decanoylcarnitine (C10)^LN|1|0.5|{Ratio}||N|||F|||20241015054631 OBX|47|NM|53174-9^Octenoylcarnitine (C8:1)^LN|1|0.35|µmol/L|<0.65|N|||F|||20241015054631 OBX|48|NM|45197-1^Decanoylcarnitine (C10)^LN|1|0.32|µmol/L|<0.65|N|||F|||20241015054631 OBX|49|NM|45198-9^Decenoylcarnitine (C10:1)^LN|1|0.22|µmol/L|<0.45|N|||F|||20241015054631 OBX|50|NM|45199-7^Dodecanoylcarnitine (C12)^LN|1|1|µmol/L|<2|N|||F|||20241015054631 OBX|51|NM|45200-3^Dodecenoylcarnitine (C12:1)^LN|1|0.5|µmol/L||N|||F|||20241015054631 OBX|52|NM|53192-1^Tetradecanoylcarnitine (C14)^LN|1|0.6|µmol/L|<1.2|N|||F|||20241015054631 OBX|53|NM|53191-3^Tetradecenoylcarnitine (C14:1)^LN|1|0.4|µmol/L|<0.9|N|||F|||20241015054631 OBX|54|NM|53194-7^Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1)^LN|1|0.5|{Ratio}||N|||F|||20241015054631 OBX|55|NM|53190-5^Tetradecadienoylcarnitine (C14:2)^LN|1|0.5|µmol/L||N|||F|||20241015054631 OBX|56|NM|50281-5^3-Hydroxytetradecanoylcarnitine (C14-OH)^LN|1|0.1|µmol/L|<0.2|N|||F|||20241015054631 OBX|57|NM|53199-6^Palmitoylcarnitine (C16)^LN|1|5|µmol/L|<12|N|||F|||20241015054631 OBX|58|NM|53198-8^Palmitoleylcarnitine (C16:1)^LN|1|0.7|µmol/L|<1.4|N|||F|||20241015054631 OBX|59|NM|50125-4^3-Hydroxypalmitoylcarnitine (C16-OH)^LN|1|0.05|µmol/L|<0.1|N|||F|||20241015054631 OBX|60|NM|53201-0^3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16)^LN|1|0.01000|{Ratio}|<0.07|N|||F|||20241015054631 OBX|61|NM|53241-6^Stearoylcarnitine (C18)^LN|1|2|µmol/L|<3.5|N|||F|||20241015054631 OBX|62|NM|53202-8^Oleoylcarnitine (C18:1)^LN|1|3.5|µmol/L|<7|N|||F|||20241015054631 OBX|63|NM|45217-7^Linoleoylcarnitine (C18:2)^LN|1|0.5|µmol/L||N|||F|||20241015054631 OBX|64|NM|50132-0^3-Hydroxystearoylcarnitine (C18-OH)^LN|1|0.05|µmol/L|<0.1|N|||F|||20241015054631 OBX|65|NM|50113-0^3-Hydroxyoleoylcarnitine (C18:1-OH)^LN|1|0.05|µmol/L|<0.1|N|||F|||20241015054631 OBX|66|NM|53160-8^Propionylcarnitine (C3)^LN|1|3.15|µmol/L|<7.9|N|||F|||20241015054631 OBX|67|NM|53163-2^Propionylcarnitine (C3)/Acetylcarnitine (C2)^LN|1|0.15|{Ratio}|<0.42|N|||F|||20241015054631 OBX|68|NM|67708-8^Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)^LN|1|0.2|µmol/L|<0.48|N|||F|||20241015054631 OBX|69|NM|53166-5^Butyrylcarnitine+Isobutyrylcarnitine (C4)^LN|1|0.85|µmol/L|<1.7|N|||F|||20241015054631 OBX|70|NM|45216-9^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)^LN|1|0.5|µmol/L|<0.95|N|||F|||20241015054631 OBX|71|NM|53240-8^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3)^LN|1|0.15873|{Ratio}|<0.38|N|||F|||20241015054631 OBX|72|NM|53170-7^Tiglylcarnitine (C5:1)^LN|1|0.3|µmol/L|<0.5|N|||F|||20241015054631 OBX|73|NM|50106-4^3-Hydroxyisovalerylcarnitine (C5-OH)^LN|1|0.45|µmol/L|<1.15|N|||F|||20241015054631 OBX|74|NM|67710-4^Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)^LN|1|0.3|µmol/L|<0.38|N|||F|||20241015054631 OBX|75|NM|75216-2^Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in Dried blood spot^LN|1|1.50000|{Ratio}|>0.1|N|||F|||20241015054631 OBX|76|NM|48633-2^Trypsinogen I.free^LN|1|31.00|ng/mL|<69|N|||F|||20241015054631 OBX|77|CE|46769-6^Cystic fibrosis newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015054631 OBX|78|TX|57707-2^Cystic fibrosis newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241015054631 OBX|79|NM|38473-5^17-Hydroxyprogesterone^LN|1|305|nmol/L|<85|H|||F|||20241015054631 OBX|80|CE|46758-9^Congenital adrenal hyperplasia newborn screen interpretation^LN|1|LA18593-6^Out of range^LN|||A|||F|||20241015054631 OBX|81|TX|57706-4^Congenital adrenal hyperplasia newborn screening comment-discussion^LN|1|Positive|||A|||F|||20241015054631 OBX|82|NM|29575-8^Thyrotropin^LN|1|14.50|mIU/L|<29|N|||F|||20241015054631 OBX|83|CE|46762-1^Congenital hypothyroidism newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015054631 OBX|84|TX|57705-6^Congenital hypothyroidism newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241015054631 OBX|85|NM|42906-8^Galactose 1 phosphate uridyl transferase^LN|1|48.00|enzyme units|>50|L|||F|||20241015054631 OBX|86|CE|46737-3^Galactosemias newborn screen interpretation^LN|1|LA18593-6^Out of range^LN|||A|||F|||20241015054631 OBX|87|TX|57704-9^Galactosemias newborn screening comment-discussion^LN|1|Positive|||A|||F|||20241015054631 OBX|88|TX|54104-5^Hemoglobin pattern^LN|1|FA||||||F|||20241015054631 OBX|89|TX|57703-1^Hemoglobin disorders newborn screening comment/discussion^LN|1|Usual hemoglobin pattern.µThese results assume no transfusion prior to testing and do not rule out the possibility of a thalassemia trait or rare hemoglobin variants.||||||F|||20241015054631 OBX|90|NM|75217-0^Biotinidase [Enzymatic activity/volume] in Dried blood spot^LN|1|15.00|ERU|>10|N|||F|||20241015054631 OBX|91|CE|46761-3^Biotinidase deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015054631 OBX|92|TX|57699-1^Biotinidase deficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241015054631 OBX|93|NM|62320-7^T-cell receptor excision circle [#/volume] in Dried blood spot by Probe and target amplification method^LN|1|2|copies/µL|>18|L|||F|||20241015054631 OBX|94|CE|62321-5^Severe combined immunodeficiency newborn screen interpretation^LN|1|LA11884-6^Indeterminate^LN|||A|||F|||20241015054631 OBX|95|TX|62322-3^Severe combined immunodeficiency newborn screening comment-discussion^LN|1|Incomplete|||A|||F|||20241015054631 OBX|96|CE|63415-4^Pompe Disease deficiency newborn screen interpretation^LN|1|LA16205-9^Specimen unsatisfactory for at least one condition^LN|||A|||F|||20241015054631 OBX|97|TX|63416-2^Pompe Disease deficiency newborn screening comments-discussion^LN|1|Incomplete|||A|||F|||20241015054631 OBX|98|NM|55909-6^Alpha-L-iduronidase [Enzymatic activity/volume] in DBS^LN|1|3.117|µmol/L/h|>=18.2|N|||F|||20241015054631 OBX|99|CE|79564-1^Mucopolysaccharidosis type I newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015054631 OBX|100|TX|79565-8^Mucopolysaccharidosis type I newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241015054631 OBX|101|TX|PLT3293^SMN1 exon 7 deletion analysis in DBS by Sequencing^PLT^99717-60^SMN1 Homozygous Deletion Analysis^L|1|Exon 7 Present||Exon 7 Present|N|||F|||20241015054631 OBX|102|CE|92004-1^Spinal muscular atrophy newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015054631 OBX|103|TX|92003-3^Spinal muscular atrophy newborn screening comment-discussion^LN|1|SMA Negative|||N|||F|||20241015054631 OBX|104|NM|79462-8^Iduronate-2-Sulfatase [Enzymatic activity/volume] in DBS^LN|1|28.1|µmol/L/h|>=2.06|N|||F|||20241015054631 OBX|105|CE|104189-6^Mucopolysaccharidosis type II newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015054631 OBX|106|TX|104190-4^Mucopolysaccharidosis type II newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241015054631 OBX|107|CE|104192-0^Guanidinoacetate methyltransferase deficiency newborn screening interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015054631 OBX|108|TX|104193-8^Guanidinoacetate methyltransferase deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241015054631 OBX|109|NM|93488-5^Guanidinoacetate [moles/volume] in Dried blood spot^LN|1|2.37|µmol/L|<=3|N|||F|||20241015054631 OBX|110|NM|104194-6^Creatine [moles/volume] in Dried blood spot^LN|1|170.08|µmol/L||N|||F|||20241015054631 OBX|111|NM|104195-3^GUAC/CRE Ratio [moles/volume] in Dried blood spot^LN|1|13.93||<=10|H|||F|||20241015054631 OBX|112|CE|85269-9^X-linked Adrenoleukodystrophy (X- ALD) newborn screen interpretation^LN^99717-32^Adrenoleukodystrophy deficiency newborn screening interpretation^L|1|LA18592-8^In range^LN|||N|||F|||20241015054631 OBX|113|TX|85268-1^X-linked Adrenoleukodystrophy (X- ALD) newborn screening comment-discussion^LN^99717-33^Adrenoleukodystrophy deficiency newborn screening comments-discussion^L|1|Negative|||N|||F|||20241015054631 OBX|114|NM|79321-6^Lysophosphatidylcholine(26:0) [Moles/volume] in Dried blood spot^LN|1|0.2|µmol/L|<0.47|N|||F|||20241015054631| +MSH|^~\&|GOLDEN-COPY|CDPH|EPIC|R797|20241015054631||ORU^R01|001|N|2.5.1 PID|1||80015867||CDPHTWO^GIRL MOMTWO||202410071025|F||2076-8^Native Hawaiian or Other Pacific Islander||||||||||||2186-5^Not Hispanic or Latino||N|1 NK1|1|CDPHTWO^MOMTWO|MTH^Mother|2 SECOND ST^^SAN DIEGO^CA^92121^USA||||||||||||20000202 ORC|RE|189688314^HospOrdNumber||7371237714^FormNumber||||||||1790743185^HUBBARD^EUSTRATIA^^^^^^^^^^NPI|||||||||UCSD JACOBS MEDICAL CENTER^^^^^^^^^R797|AG N 005EVA DLEIFR, F N 0037TERTS ONSER^^SAN DIEGO^CA^99999-9999 OBR|1|189688314^HospOrdNumber||54089-8^NB Screen Panel Patient AHIC^CDPHGSPEAP|||202410081133|||||||||1790743185^HUBBARD^EUSTRATIA^^^^^^^^^^NPI||||||20241015054631|||F OBX|1|CE|57721-3^Reason for lab test in Dried blood spot^LN|1|LA12427-3^Subsequent screen - for clarification of initial results (not by law or protocol)^LN|||N|||F|||20241015054631 OBX|2|CE|57718-9^Sample quality of Dried blood spot^LN|1|LA12432-3^Acceptable^LN|||N|||F|||20241015054631 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|||20241015054631 OBX|4|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|1|LA12543-7^GALT^LN|||N|||F|||20241015054631 OBX|5|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|2|LA12533-8^CAH^LN|||N|||F|||20241015054631 OBX|6|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|1|LA12566-8^SCID^LN|||N|||F|||20241015054631 OBX|7|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|2|LA14037-8^GAA^LN|||N|||F|||20241015054631 OBX|8|TX|57724-7^Newborn screening short narrative summary^LN|1|ACTION REQUIRED\.br\\.br\NBS Testing Lab - COMMUNITY REG MEDICAL CENTER LAB \R\NAR 01303DR OJEIV OHC, TS513 E, FRESNO, CA 99999\.br\\.br\Genetic Disease Laboratory - GDL E 069TS NEERG, RICHMOND, CA 99999-9999\.br\\.br\Lab Director - Genetic Disease Laboratory, (510) 231-1790\.br\\.br\Follow-up:\.br\\.br\CAH: An immediate referral to a CCS endocrine center or pediatric endocrinologist, for evaluation and additional testing, is strongly recommended. \.br\\.br\Pompe: Another dried blood specimen MUST be collected for this child. Call your Newborn Screening Coordinator for assistance. \.br\\.br\SCID: Another dried blood specimen MUST be collected for this child. Call your Newborn Screening Coordinator for assistance. \.br\\.br\Galactosemia: Additional testing is required to rule out disorder.µCall your Newborn Screening Coordinator for assistance. \.br\\.br\ATTENTION: THIS CHILD HAS TESTED POSITIVE FOR MORE THAN ONE TEST. \.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 (126) 411-8708. \.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, GAMT, Pompe Disease Tier-1, MPS I Tier-1, MPS II 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 and differences in detection rates for these disorders in the newborn period, genetic screening will not identify all positive cases. While a positive screening result identifies newborns at risk and justifies 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 signs or symptoms of these disorders in their patients. Screening results are not diagnostic and cannot replace individualized evaluation and diagnosis of an infant from the healthcare provider. Newborn screening specimens collected at greater than 72 hours of age are outside the window of validation for analyte reference intervals and this may affect the accuracy of some screening results. \.br\\.br\|||N|||F|||20241015054631 OBX|9|TX|57129-9^Full newborn screening summary report for display or printing^LN|1||||N|||F|||20241015054631 OBX|10|ST|57716-3^State printed on filter paper card [Identifier] in NBS card^LN|1|CA|||N|||F|||20241015054631 OBX|11|NM|8339-4^Birthweight^LN|1|3175|grams||N|||F|||20241015054631 OBX|12|TM|57715-5^Time of birth^LN|1|1025|||N|||F|||20241015054631 OBX|13|CE|57722-1^Birth plurality of Pregnancy^LN|1|LA12411-7^Singleton^LN|||N|||F|||20241015054631 OBX|14|NM|73806-2^Newborn age in hours^LN|1|25|hour(s)||N|||F|||20241015054631 OBX|15|CE|57713-0^Infant NICU factors that affect newborn screening interpretation^LN|1|LA137-2^None^LN|||N|||F|||20241015054631 OBX|16|CE|67704-7^Feeding types^LN|1|LA4489-6^Unknown^LN|||N|||F|||20241015054631 OBX|17|TX|62324-9^Post-discharge provider name^LN|1|DENISE COYLE|||N|||F|||20241015054631 OBX|18|TX|62327-2^Post-discharge provider practice address^LN|1|AG N 005EVA DLEIFR, F N 0037TERTS ONSER SAN DIEGO CA 99999-9999 USA|||N|||F|||20241015054631 OBX|19|NM|47633-3^Glycine [Moles/volume] in Dried blood spot^LN|1|0.5|µmol/L||N|||F|||20241015054631 OBX|20|NM|53150-9^Alanine+Beta Alanine+Sarcosine [Moles/volume] in Dried blood spot^LN|1|500|µmol/L|<1000|N|||F|||20241015054631 OBX|21|NM|47799-2^Valine [Moles/volume] in Dried blood spot^LN|1|0.5|µmol/L||N|||F|||20241015054631 OBX|22|NM|53151-7^Valine/Phenylalanine [Molar ratio] in Dried blood spot^LN|1|0.00645|{Ratio}|<4.3|N|||F|||20241015054631 OBX|23|NM|53152-5^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline^LN|1|125|µmol/L|<230|N|||F|||20241015054631 OBX|24|NM|53154-1^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in Dried blood spot^LN|1|0.65|{Ratio}|<1.35|N|||F|||20241015054631 OBX|25|NM|29573-3^Phenylalanine [Moles/volume] in Dried blood spot^LN|1|77.5|µmol/L|<175|N|||F|||20241015054631 OBX|26|NM|35572-7^Phenylalanine/Tyrosine [Molar ratio] in Dried blood spot^LN|1|0.75|{Ratio}|<2.6|N|||F|||20241015054631 OBX|27|NM|35571-9^Tyrosine [Moles/volume] in Dried blood spot^LN|1|425|µmol/L|<680|N|||F|||20241015054631 OBX|28|NM|53231-7^Succinylacetone [Moles/volume] in Dried blood spot^LN|1|2.25|µmol/L|<6.1|N|||F|||20241015054631 OBX|29|NM|47700-0^Methionine [Moles/volume] in Dried blood spot^LN|1|27|µmol/L|6.3-100|N|||F|||20241015054631 OBX|30|NM|42892-0^Citrulline [Moles/volume] in Dried blood spot^LN|1|16.25|µmol/L|5-49|N|||F|||20241015054631 OBX|31|NM|54092-2^Citrulline/Arginine [Molar ratio] in Dried blood spot^LN|1|3|{Ratio}|<4.8|N|||F|||20241015054631 OBX|32|NM|53155-8^Asparagine+Ornithine [Moles/volume] in Dried blood spot^LN|1|400|µmol/L|<800|N|||F|||20241015054631 OBX|33|NM|75215-4^Ornithine/Citrulline [Molar ratio] in Dried blood spot^LN|1|0.5|{Ratio}||N|||F|||20241015054631 OBX|34|NM|47562-4^Arginine [Moles/volume] in Dried blood spot^LN|1|25|µmol/L|<63|N|||F|||20241015054631 OBX|35|NM|75214-7^Arginine/Ornithine [Molar ratio] in Dried blood spot^LN|1|0.7|{Ratio}|<1.9|N|||F|||20241015054631 OBX|36|NM|47732-3^Proline [Moles/volume] in Dried blood spot^LN|1|750|µmol/L|<1500|N|||F|||20241015054631 OBX|37|TX|57710-6^Amino acidemias newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241015054631 OBX|38|CE|58088-6^Acylcarnitine newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015054631 OBX|39|TX|58093-6^Acylcarnitine newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241015054631 OBX|40|NM|38481-8^Carnitine.free (C0)^LN|1|33|µmol/L|6.4-125|N|||F|||20241015054631 OBX|41|NM|53235-8^Carnitine.free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18)^LN|1|37.5|{Ratio}|<70|N|||F|||20241015054631 OBX|42|NM|50157-7^Acetylcarnitine (C2)^LN|1|20.38|µmol/L|10-80|N|||F|||20241015054631 OBX|43|NM|75212-1^Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in Dried blood spot^LN|1|0.62500|{Ratio}|<7.6|N|||F|||20241015054631 OBX|44|NM|45211-0^Hexanoylcarnitine (C6)^LN|1|0.48|µmol/L|<0.95|N|||F|||20241015054631 OBX|45|NM|53175-6^Octanoylcarnitine (C8)^LN|1|0.3|µmol/L|<0.45|N|||F|||20241015054631 OBX|46|NM|53177-2^Octanoylcarnitine (C8)/Decanoylcarnitine (C10)^LN|1|0.5|{Ratio}||N|||F|||20241015054631 OBX|47|NM|53174-9^Octenoylcarnitine (C8:1)^LN|1|0.35|µmol/L|<0.65|N|||F|||20241015054631 OBX|48|NM|45197-1^Decanoylcarnitine (C10)^LN|1|0.32|µmol/L|<0.65|N|||F|||20241015054631 OBX|49|NM|45198-9^Decenoylcarnitine (C10:1)^LN|1|0.22|µmol/L|<0.45|N|||F|||20241015054631 OBX|50|NM|45199-7^Dodecanoylcarnitine (C12)^LN|1|1|µmol/L|<2|N|||F|||20241015054631 OBX|51|NM|45200-3^Dodecenoylcarnitine (C12:1)^LN|1|0.5|µmol/L||N|||F|||20241015054631 OBX|52|NM|53192-1^Tetradecanoylcarnitine (C14)^LN|1|0.6|µmol/L|<1.2|N|||F|||20241015054631 OBX|53|NM|53191-3^Tetradecenoylcarnitine (C14:1)^LN|1|0.4|µmol/L|<0.9|N|||F|||20241015054631 OBX|54|NM|53194-7^Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1)^LN|1|0.5|{Ratio}||N|||F|||20241015054631 OBX|55|NM|53190-5^Tetradecadienoylcarnitine (C14:2)^LN|1|0.5|µmol/L||N|||F|||20241015054631 OBX|56|NM|50281-5^3-Hydroxytetradecanoylcarnitine (C14-OH)^LN|1|0.1|µmol/L|<0.2|N|||F|||20241015054631 OBX|57|NM|53199-6^Palmitoylcarnitine (C16)^LN|1|5|µmol/L|<12|N|||F|||20241015054631 OBX|58|NM|53198-8^Palmitoleylcarnitine (C16:1)^LN|1|0.7|µmol/L|<1.4|N|||F|||20241015054631 OBX|59|NM|50125-4^3-Hydroxypalmitoylcarnitine (C16-OH)^LN|1|0.05|µmol/L|<0.1|N|||F|||20241015054631 OBX|60|NM|53201-0^3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16)^LN|1|0.01000|{Ratio}|<0.07|N|||F|||20241015054631 OBX|61|NM|53241-6^Stearoylcarnitine (C18)^LN|1|2|µmol/L|<3.5|N|||F|||20241015054631 OBX|62|NM|53202-8^Oleoylcarnitine (C18:1)^LN|1|3.5|µmol/L|<7|N|||F|||20241015054631 OBX|63|NM|45217-7^Linoleoylcarnitine (C18:2)^LN|1|0.5|µmol/L||N|||F|||20241015054631 OBX|64|NM|50132-0^3-Hydroxystearoylcarnitine (C18-OH)^LN|1|0.05|µmol/L|<0.1|N|||F|||20241015054631 OBX|65|NM|50113-0^3-Hydroxyoleoylcarnitine (C18:1-OH)^LN|1|0.05|µmol/L|<0.1|N|||F|||20241015054631 OBX|66|NM|53160-8^Propionylcarnitine (C3)^LN|1|3.15|µmol/L|<7.9|N|||F|||20241015054631 OBX|67|NM|53163-2^Propionylcarnitine (C3)/Acetylcarnitine (C2)^LN|1|0.15|{Ratio}|<0.42|N|||F|||20241015054631 OBX|68|NM|67708-8^Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)^LN|1|0.2|µmol/L|<0.48|N|||F|||20241015054631 OBX|69|NM|53166-5^Butyrylcarnitine+Isobutyrylcarnitine (C4)^LN|1|0.85|µmol/L|<1.7|N|||F|||20241015054631 OBX|70|NM|45216-9^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)^LN|1|0.5|µmol/L|<0.95|N|||F|||20241015054631 OBX|71|NM|53240-8^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3)^LN|1|0.15873|{Ratio}|<0.38|N|||F|||20241015054631 OBX|72|NM|53170-7^Tiglylcarnitine (C5:1)^LN|1|0.3|µmol/L|<0.5|N|||F|||20241015054631 OBX|73|NM|50106-4^3-Hydroxyisovalerylcarnitine (C5-OH)^LN|1|0.45|µmol/L|<1.15|N|||F|||20241015054631 OBX|74|NM|67710-4^Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)^LN|1|0.3|µmol/L|<0.38|N|||F|||20241015054631 OBX|75|NM|75216-2^Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in Dried blood spot^LN|1|1.50000|{Ratio}|>0.1|N|||F|||20241015054631 OBX|76|NM|48633-2^Trypsinogen I.free^LN|1|31.00|ng/mL|<69|N|||F|||20241015054631 OBX|77|CE|46769-6^Cystic fibrosis newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015054631 OBX|78|TX|57707-2^Cystic fibrosis newborn screening comment/discussion^LN|1|Negative|||N|||F|||20241015054631 OBX|79|NM|38473-5^17-Hydroxyprogesterone^LN|1|305|nmol/L|<85|H|||F|||20241015054631 OBX|80|CE|46758-9^Congenital adrenal hyperplasia newborn screen interpretation^LN|1|LA18593-6^Out of range^LN|||A|||F|||20241015054631 OBX|81|TX|57706-4^Congenital adrenal hyperplasia newborn screening comment-discussion^LN|1|Positive|||A|||F|||20241015054631 OBX|82|NM|29575-8^Thyrotropin^LN|1|14.50|mIU/L|<29|N|||F|||20241015054631 OBX|83|CE|46762-1^Congenital hypothyroidism newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015054631 OBX|84|TX|57705-6^Congenital hypothyroidism newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241015054631 OBX|85|NM|42906-8^Galactose 1 phosphate uridyl transferase^LN|1|48.00|enzyme units|>50|L|||F|||20241015054631 OBX|86|CE|46737-3^Galactosemias newborn screen interpretation^LN|1|LA18593-6^Out of range^LN|||A|||F|||20241015054631 OBX|87|TX|57704-9^Galactosemias newborn screening comment-discussion^LN|1|Positive|||A|||F|||20241015054631 OBX|88|TX|54104-5^Hemoglobin pattern^LN|1|FA||||||F|||20241015054631 OBX|89|TX|57703-1^Hemoglobin disorders newborn screening comment/discussion^LN|1|Usual hemoglobin pattern.µThese results assume no transfusion prior to testing and do not rule out the possibility of a thalassemia trait or rare hemoglobin variants.||||||F|||20241015054631 OBX|90|NM|75217-0^Biotinidase [Enzymatic activity/volume] in Dried blood spot^LN|1|15.00|ERU|>10|N|||F|||20241015054631 OBX|91|CE|46761-3^Biotinidase deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015054631 OBX|92|TX|57699-1^Biotinidase deficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241015054631 OBX|93|NM|62320-7^T-cell receptor excision circle [#/volume] in Dried blood spot by Probe and target amplification method^LN|1|2|copies/µL|>18|L|||F|||20241015054631 OBX|94|CE|62321-5^Severe combined immunodeficiency newborn screen interpretation^LN|1|LA11884-6^Indeterminate^LN|||A|||F|||20241015054631 OBX|95|TX|62322-3^Severe combined immunodeficiency newborn screening comment-discussion^LN|1|Incomplete|||A|||F|||20241015054631 OBX|96|CE|63415-4^Pompe Disease deficiency newborn screen interpretation^LN|1|LA16205-9^Specimen unsatisfactory for at least one condition^LN|||A|||F|||20241015054631 OBX|97|TX|63416-2^Pompe Disease deficiency newborn screening comments-discussion^LN|1|Incomplete|||A|||F|||20241015054631 OBX|98|NM|55909-6^Alpha-L-iduronidase [Enzymatic activity/volume] in DBS^LN|1|3.117|µmol/L/h|>=18.2|N|||F|||20241015054631 OBX|99|CE|79564-1^Mucopolysaccharidosis type I newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015054631 OBX|100|TX|79565-8^Mucopolysaccharidosis type I newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241015054631 OBX|101|TX|PLT3293^SMN1 exon 7 deletion analysis in DBS by Sequencing^PLT^99717-60^SMN1 Homozygous Deletion Analysis^L|1|Exon 7 Present||Exon 7 Present|N|||F|||20241015054631 OBX|102|CE|92004-1^Spinal muscular atrophy newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015054631 OBX|103|TX|92003-3^Spinal muscular atrophy newborn screening comment-discussion^LN|1|SMA Negative|||N|||F|||20241015054631 OBX|104|NM|79462-8^Iduronate-2-Sulfatase [Enzymatic activity/volume] in DBS^LN|1|28.1|µmol/L/h|>=2.06|N|||F|||20241015054631 OBX|105|CE|104189-6^Mucopolysaccharidosis type II newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015054631 OBX|106|TX|104190-4^Mucopolysaccharidosis type II newborn screening comment-discussion^LN|1|Negative|||N|||F|||20241015054631 OBX|107|CE|104192-0^Guanidinoacetate methyltransferase deficiency newborn screening interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20241015054631 OBX|108|TX|104193-8^Guanidinoacetate methyltransferase deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20241015054631 OBX|109|NM|93488-5^Guanidinoacetate [moles/volume] in Dried blood spot^LN|1|2.37|µmol/L|<=3|N|||F|||20241015054631 OBX|110|NM|104194-6^Creatine [moles/volume] in Dried blood spot^LN|1|170.08|µmol/L||N|||F|||20241015054631 OBX|111|NM|104195-3^GUAC/CRE Ratio [moles/volume] in Dried blood spot^LN|1|13.93||<=10|H|||F|||20241015054631 OBX|112|CE|85269-9^X-linked Adrenoleukodystrophy (X- ALD) newborn screen interpretation^LN^99717-32^Adrenoleukodystrophy deficiency newborn screening interpretation^L|1|LA18592-8^In range^LN|||N|||F|||20241015054631 OBX|113|TX|85268-1^X-linked Adrenoleukodystrophy (X- ALD) newborn screening comment-discussion^LN^99717-33^Adrenoleukodystrophy deficiency newborn screening comments-discussion^L|1|Negative|||N|||F|||20241015054631 OBX|114|NM|79321-6^Lysophosphatidylcholine(26:0) [Moles/volume] in Dried blood spot^LN|1|0.2|µmol/L|<0.47|N|||F|||20241015054631 diff --git a/rs-e2e/src/test/groovy/gov/hhs/cdc/trustedintermediary/rse2e/GoldenCopyTest.groovy b/rs-e2e/src/test/groovy/gov/hhs/cdc/trustedintermediary/rse2e/GoldenCopyTest.groovy index 6c175f976..26d90d66a 100644 --- a/rs-e2e/src/test/groovy/gov/hhs/cdc/trustedintermediary/rse2e/GoldenCopyTest.groovy +++ b/rs-e2e/src/test/groovy/gov/hhs/cdc/trustedintermediary/rse2e/GoldenCopyTest.groovy @@ -6,7 +6,6 @@ import gov.hhs.cdc.trustedintermediary.rse2e.hl7.HL7FileMatcher import gov.hhs.cdc.trustedintermediary.rse2e.hl7.HL7FileStream import gov.hhs.cdc.trustedintermediary.rse2e.external.localfile.LocalFileFetcher import gov.hhs.cdc.trustedintermediary.rse2e.hl7.HL7ExpressionEvaluator -import gov.hhs.cdc.trustedintermediary.rse2e.hl7.HL7Message import gov.hhs.cdc.trustedintermediary.ruleengine.RuleLoader import gov.hhs.cdc.trustedintermediary.wrappers.HealthDataExpressionEvaluator import gov.hhs.cdc.trustedintermediary.wrappers.Logger @@ -68,10 +67,6 @@ class GoldenCopyTest extends Specification { def expectedFile = filePair.getValue() if (actualFile.toString() != expectedFile.toString()) { failedFiles.add(expectedFile.getIdentifier()) - System.out.println("This guy didnt match: " + expectedFile.getIdentifier()) - } - else { - System.out.println("This guy matched: " + expectedFile.getIdentifier()) } }