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Add CA sample results and RS transformation steps (#1177)
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* Added RS transformation steps for examples/CA/003_CA_ORU_R01_CDPH_produced.hl7 file

* Added new sample file and renamed other one

* Added transformed files for 005

* Added new sample ORU from CDPH with its transformed files

* Added latest sample ORU from CDPH
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basiliskus authored Jul 24, 2024
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19,586 changes: 19,586 additions & 0 deletions examples/CA/003_CA_ORU_R01_CDPH_produced_1_hl7_translation.fhir

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16,624 changes: 16,624 additions & 0 deletions examples/CA/003_CA_ORU_R01_CDPH_produced_2_fhir_transformation.fhir

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135 changes: 135 additions & 0 deletions examples/CA/005_CA_ORU_R01_CDPH_generated_0_initial_message.hl7

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15,946 changes: 15,946 additions & 0 deletions examples/CA/005_CA_ORU_R01_CDPH_generated_1_hl7_translation.fhir

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12,984 changes: 12,984 additions & 0 deletions examples/CA/005_CA_ORU_R01_CDPH_generated_2_fhir_transformation.fhir

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MSH|^~\&|SISGDSP|CDPH|EPIC|R797|20240716090632||ORU^R01|220220550|T|2.5.1PID|1||80008715||Bird^Tweety||202407100000|M||2106-3^White||||||||||||2186-5^Not Hispanic or Latino||N|1NK1|1|Bird^Big|MTH^Mother|850 Marina Bay Parkway, APT 125^^Richmond^CA^94806-4000^USA|^^^^^916^3720117|^^^^^916^3729999||||||||||199301010000ORC|RE|Q12345^HospOrdNumber||ABC888^FormNumber||||||||^CORTEZ^ALAN^^^^^^^NPI|||||||||UCSD JACOBS MEDICAL CENTER^^^^^^^^^R797|300 PASTEUR DR, RM H1524^^PALO ALTO^CA^94305-2200OBR|1|ABC888^FormNumber||54089-8^NB Screen Panel Patient AHIC^LN^CDPHGSPEAP|||202407120000|||||||||^James^Smith||||||20240716090632|||FOBX|1|CE|57721-3^Reason for lab test in Dried blood spot^LN|1|LA12421-6^Initial screen^LN|||N|||F|||20240716090632OBX|2|CE|57718-9^Sample quality of Dried blood spot^LN|1|LA12432-3^Acceptable^LN|||N|||F|||20240716090632OBX|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|||20240716090632OBX|4|CE|57131-5^Newborn conditions with positive markers [Identifier] in Dried blood spot^LN|1|LA12533-8^CAH^LN|||N|||F|||20240716090632OBX|5|CE|57720-5^Newborn conditions with equivocal markers [Identifier] in Dried blood spot^LN|1|LA137-2^None^LN|||N|||F|||20240716090632OBX|6|TX|57724-7^Newborn screening short narrative summary^LN|1|ACTION REQUIRED\.br\\.br\NBS Testing Lab - COMMUNITY REG MEDICAL CENTER LAB \R\2823 FRESNO ST, FRESNO, CA 93721-1324\.br\\.br\Genetic Disease Laboratory - GDL 850 MARINA BAY PKWY, # G265, RICHMOND, CA 94804-6403\.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\If you have any questions regarding these screening outcomes, please contact the Newborn Screening Staff at Stanford University Medical Center at (510) 412-1562. \.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 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|||20240716090632OBX|7|TX|57129-9^Full newborn screening summary report for display or printing^LN|1||||N|||F|||20240716090632OBX|8|ST|57716-3^State printed on filter paper card [Identifier] in NBS card^LN|1|CA|||N|||F|||20240716090632OBX|9|NM|8339-4^Birthweight^LN|1|3035|grams||N|||F|||20240716090632OBX|10|TM|57715-5^Time of birth^LN|1|0000|||N|||F|||20240716090632OBX|11|CE|57722-1^Birth plurality of Pregnancy^LN|1|LA12411-7^Singleton^LN|||N|||F|||20240716090632OBX|12|NM|73806-2^Newborn age in hours^LN|1|24|hour(s)||N|||F|||20240716090632OBX|13|CE|57713-0^Infant NICU factors that affect newborn screening interpretation^LN|1|LA137-2^None^LN|||N|||F|||20240716090632OBX|14|CE|67704-7^Feeding types^LN|1|LA16917-9^NPO^LN|||N|||F|||20240716090632OBX|15|CE|67704-7^Feeding types^LN|3|LA12418-2^TPN^LN|||N|||F|||20240716090632OBX|16|TX|^^^99717-5^Accession Number^L|1|091-83-561/21-2013-11|||N|||F|||20240716090632OBX|17|TX|62324-9^Post-discharge provider name^LN||Dr Sue Great||||||F|||20240716090632OBX|18|TX|62325-6^Post-discharge provider practice ID^LN||1234567890||||||F|||20240716090632OBX|19|TX|62327-2^Post-discharge provider practice address^LN||333 Best Care Place, Suite 3B, Los Angeles, California 90001||||||F|||20240716090632OBX|20|TX|62328-0^Post-discharge provider practice telephone number^LN||(323) 123-4567||||||F|||20240716090632OBX|21|NM|47633-3^Glycine [Moles/volume] in Dried blood spot^LN|1|0.5|µmol/L||N|||F|||20240716090632OBX|22|NM|53150-9^Alanine+Beta Alanine+Sarcosine [Moles/volume] in Dried blood spot^LN|1|500|µmol/L|<1000|N|||F|||20240716090632OBX|23|NM|47799-2^Valine [Moles/volume] in Dried blood spot^LN|1|0.5|µmol/L||N|||F|||20240716090632OBX|24|NM|53151-7^Valine/Phenylalanine [Molar ratio] in Dried blood spot^LN|1|0.00645|{Ratio}|<3.5|N|||F|||20240716090632OBX|25|NM|53152-5^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline^LN|1|125|µmol/L|<250|N|||F|||20240716090632OBX|26|NM|53154-1^Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in Dried blood spot^LN|1|0.65|{Ratio}|<1.1|N|||F|||20240716090632OBX|27|NM|29573-3^Phenylalanine [Moles/volume] in Dried blood spot^LN|1|77.5|µmol/L|<165|N|||F|||20240716090632OBX|28|NM|35572-7^Phenylalanine/Tyrosine [Molar ratio] in Dried blood spot^LN|1|0.75|{Ratio}|<2.4|N|||F|||20240716090632OBX|29|NM|35571-9^Tyrosine [Moles/volume] in Dried blood spot^LN|1|425|µmol/L|<850|N|||F|||20240716090632OBX|30|NM|53231-7^Succinylacetone [Moles/volume] in Dried blood spot^LN|1|2.25|µmol/L|<4.5|N|||F|||20240716090632OBX|31|NM|47700-0^Methionine [Moles/volume] in Dried blood spot^LN|1|27|µmol/L|8-100|N|||F|||20240716090632OBX|32|NM|42892-0^Citrulline [Moles/volume] in Dried blood spot^LN|1|16.25|µmol/L|5-60|N|||F|||20240716090632OBX|33|NM|54092-2^Citrulline/Arginine [Molar ratio] in Dried blood spot^LN|1|3|{Ratio}|<6|N|||F|||20240716090632OBX|34|NM|53155-8^Asparagine+Ornithine [Moles/volume] in Dried blood spot^LN|1|400|µmol/L|<800|N|||F|||20240716090632OBX|35|NM|75215-4^Ornithine/Citrulline [Molar ratio] in Dried blood spot^LN|1|0.5|{Ratio}||N|||F|||20240716090632OBX|36|NM|47562-4^Arginine [Moles/volume] in Dried blood spot^LN|1|25|µmol/L|<50|N|||F|||20240716090632OBX|37|NM|75214-7^Arginine/Ornithine [Molar ratio] in Dried blood spot^LN|1|0.7|{Ratio}|<1.4|N|||F|||20240716090632OBX|38|NM|47732-3^Proline [Moles/volume] in Dried blood spot^LN|1|750|µmol/L|<1500|N|||F|||20240716090632OBX|39|NM|53232-5^5-Oxoproline+Pipecolate [Moles/volume] in Dried blood spot^LN|1|0.5|µmol/L||N|||F|||20240716090632OBX|40|TX|57710-6^Amino acidemias newborn screening comment/discussion^LN|1|Negative|||N|||F|||20240716090632OBX|41|CE|58088-6^Acylcarnitine newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20240716090632OBX|42|TX|58093-6^Acylcarnitine newborn screening comment/discussion^LN|1|Negative|||N|||F|||20240716090632OBX|43|NM|38481-8^Carnitine.free (C0)^LN|1|33|µmol/L|6-125|N|||F|||20240716090632OBX|44|NM|53235-8^Carnitine.free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18)^LN|1|37.5|{Ratio}|<75|N|||F|||20240716090632OBX|45|NM|50157-7^Acetylcarnitine (C2)^LN|1|20.38|µmol/L|11-80|N|||F|||20240716090632OBX|46|NM|75212-1^Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in Dried blood spot^LN|1|0.62500|{Ratio}|<5.2|N|||F|||20240716090632OBX|47|NM|45211-0^Hexanoylcarnitine (C6)^LN|1|0.48|µmol/L|<0.95|N|||F|||20240716090632OBX|48|NM|53175-6^Octanoylcarnitine (C8)^LN|1|0.3|µmol/L|<0.6|N|||F|||20240716090632OBX|49|NM|53177-2^Octanoylcarnitine (C8)/Decanoylcarnitine (C10)^LN|1|0.5|{Ratio}||N|||F|||20240716090632OBX|50|NM|53174-9^Octenoylcarnitine (C8:1)^LN|1|0.35|µmol/L|<0.65|N|||F|||20240716090632OBX|51|NM|45197-1^Decanoylcarnitine (C10)^LN|1|0.32|µmol/L|<0.65|N|||F|||20240716090632OBX|52|NM|45198-9^Decenoylcarnitine (C10:1)^LN|1|0.22|µmol/L|<0.45|N|||F|||20240716090632OBX|53|NM|45199-7^Dodecanoylcarnitine (C12)^LN|1|1|µmol/L|<2|N|||F|||20240716090632OBX|54|NM|45200-3^Dodecenoylcarnitine (C12:1)^LN|1|0.5|µmol/L||N|||F|||20240716090632OBX|55|NM|53192-1^Tetradecanoylcarnitine (C14)^LN|1|0.6|µmol/L|<1.2|N|||F|||20240716090632OBX|56|NM|53191-3^Tetradecenoylcarnitine (C14:1)^LN|1|0.4|µmol/L|<0.8|N|||F|||20240716090632OBX|57|NM|53194-7^Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1)^LN|1|0.5|{Ratio}||N|||F|||20240716090632OBX|58|NM|53190-5^Tetradecadienoylcarnitine (C14:2)^LN|1|0.5|µmol/L||N|||F|||20240716090632OBX|59|NM|50281-5^3-Hydroxytetradecanoylcarnitine (C14-OH)^LN|1|0.1|µmol/L|<0.2|N|||F|||20240716090632OBX|60|NM|53199-6^Palmitoylcarnitine (C16)^LN|1|5|µmol/L|<10|N|||F|||20240716090632OBX|61|NM|53198-8^Palmitoleylcarnitine (C16:1)^LN|1|0.7|µmol/L|<1.4|N|||F|||20240716090632OBX|62|NM|50125-4^3-Hydroxypalmitoylcarnitine (C16-OH)^LN|1|0.05|µmol/L|<0.1|N|||F|||20240716090632OBX|63|NM|53201-0^3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16)^LN|1|0.01000|{Ratio}|<0.07|N|||F|||20240716090632OBX|64|NM|53241-6^Stearoylcarnitine (C18)^LN|1|2|µmol/L|<3.5|N|||F|||20240716090632OBX|65|NM|53202-8^Oleoylcarnitine (C18:1)^LN|1|3.5|µmol/L|<7|N|||F|||20240716090632OBX|66|NM|45217-7^Linoleoylcarnitine (C18:2)^LN|1|0.5|µmol/L||N|||F|||20240716090632OBX|67|NM|50132-0^3-Hydroxystearoylcarnitine (C18-OH)^LN|1|0.05|µmol/L|<0.1|N|||F|||20240716090632OBX|68|NM|50113-0^3-Hydroxyoleoylcarnitine (C18:1-OH)^LN|1|0.05|µmol/L|<0.1|N|||F|||20240716090632OBX|69|NM|53160-8^Propionylcarnitine (C3)^LN|1|3.15|µmol/L|<6.3|N|||F|||20240716090632OBX|70|NM|53163-2^Propionylcarnitine (C3)/Acetylcarnitine (C2)^LN|1|0.15|{Ratio}|<0.3|N|||F|||20240716090632OBX|71|NM|67708-8^Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)^LN|1|0.2|µmol/L|<0.38|N|||F|||20240716090632OBX|72|NM|53166-5^Butyrylcarnitine+Isobutyrylcarnitine (C4)^LN|1|0.85|µmol/L|<1.7|N|||F|||20240716090632OBX|73|NM|45216-9^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)^LN|1|0.5|µmol/L|<1|N|||F|||20240716090632OBX|74|NM|53240-8^Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3)^LN|1|0.15873|{Ratio}|<0.45|N|||F|||20240716090632OBX|75|NM|53170-7^Tiglylcarnitine (C5:1)^LN|1|0.3|µmol/L|<0.5|N|||F|||20240716090632OBX|76|NM|50106-4^3-Hydroxyisovalerylcarnitine (C5-OH)^LN|1|0.45|µmol/L|<0.85|N|||F|||20240716090632OBX|77|NM|67710-4^Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)^LN|1|0.3|µmol/L|<0.5|N|||F|||20240716090632OBX|78|NM|75216-2^Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in Dried blood spot^LN|1|1.50000|{Ratio}|>0.6|N|||F|||20240716090632OBX|79|NM|48633-2^Trypsinogen I.free^LN|1|31.00|ng/mL|<63|N|||F|||20240716090632OBX|80|CE|46769-6^Cystic fibrosis newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20240716090632OBX|81|TX|57707-2^Cystic fibrosis newborn screening comment/discussion^LN|1|Negative|||N|||F|||20240716090632OBX|82|NM|38473-5^17-Hydroxyprogesterone^LN|1|305|nmol/L|<70|H|||F|||20240716090632OBX|83|CE|46758-9^Congenital adrenal hyperplasia newborn screen interpretation^LN|1|LA18593-6^Out of range^LN|||A|||F|||20240716090632OBX|84|TX|57706-4^Congenital adrenal hyperplasia newborn screening comment-discussion^LN|1|Positive|||A|||F|||20240716090632OBX|85|NM|29575-8^Thyrotropin^LN|1|14.50|mIU/L|<29|N|||F|||20240716090632OBX|86|CE|46762-1^Congenital hypothyroidism newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20240716090632OBX|87|TX|57705-6^Congenital hypothyroidism newborn screening comment-discussion^LN|1|Negative|||N|||F|||20240716090632OBX|88|NM|42906-8^Galactose 1 phosphate uridyl transferase^LN|1|55.00|enzyme units|>50|N|||F|||20240716090632OBX|89|CE|46737-3^Galactosemias newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20240716090632OBX|90|TX|57704-9^Galactosemias newborn screening comment-discussion^LN|1|Negative|||N|||F|||20240716090632OBX|91|TX|54104-5^Hemoglobin pattern^LN|1|FA|||N|||F|||20240716090632OBX|92|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.|||N|||F|||20240716090632OBX|93|NM|75217-0^Biotinidase [Enzymatic activity/volume] in Dried blood spot^LN|1|15.00|ERU|>10|N|||F|||20240716090632OBX|94|CE|46761-3^Biotinidase deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20240716090632OBX|95|TX|57699-1^Biotinidase deficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20240716090632OBX|96|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|||20240716090632OBX|97|CE|62321-5^Severe combined immunodeficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20240716090632OBX|98|TX|62322-3^Severe combined immunodeficiency newborn screening comment-discussion^LN|1|Negative|||N|||F|||20240716090632OBX|99|NM|55827-0^Acid alpha glucosidase [Enzymatic activity/volume] in DBS^LN|1|14.313|µmol/L/h|>=2.079|N|||F|||20240716090632OBX|100|CE|63415-4^Pompe Disease deficiency newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20240716090632OBX|101|TX|63416-2^Pompe Disease deficiency newborn screening comments-discussion^LN|1|Negative|||N|||F|||20240716090632OBX|102|NM|55909-6^Alpha-L-iduronidase [Enzymatic activity/volume] in DBS^LN|1|7.64|µmol/L/h|>=1.2204|N|||F|||20240716090632OBX|103|CE|79564-1^Mucopolysaccharidosis type I newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20240716090632OBX|104|TX|79565-8^Mucopolysaccharidosis type I newborn screening comment-discussion^LN|1|Negative|||N|||F|||20240716090632OBX|105|TX|^^^99717-60^SMN1 Homozygous Deletion Analysis^L|1|Exon 7 Present||Exon 7 Present|N|||F|||20240716090632OBX|106|CE|92004-1^Spinal muscular atrophy newborn screen interpretation^LN|1|LA18592-8^In range^LN|||N|||F|||20240716090632OBX|107|TX|92003-3^Spinal muscular atrophy newborn screening comment-discussion^LN|1|SMA Negative|||N|||F|||20240716090632OBX|108|TX|92003-3^Spinal muscular atrophy newborn screening comment-discussion^LN|2||||N|||F|||20240716090632OBX|109|CE|^^^99717-32^Adrenoleukodystrophy deficiency newborn screening interpretation^L|1|LA18592-8^In range^LN|||N|||F|||20240716090632OBX|110|TX|^^^99717-33^Adrenoleukodystrophy deficiency newborn screening comments-discussion^L|1|Negative|||N|||F|||20240716090632OBX|111|NM|79321-6^Lysophosphatidylcholine(26:0) [Moles/volume] in Dried blood spot^LN|1|0.2|µmol/L|<0.42|N|||F|||20240716090632
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