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Horizon 106 Carrier Screen Epic Compendium

Desired Epic Build * = editable field

Cerner Primary Mnemonic:

Horizon 106 Carrier Screen

PDM

245346

Informatics - Workgroup

Molecular-Send Outs

Synonyms *

HORIZON106
NATERA

Display Name *

Horizon 106 Carrier Screen

Specimen Sources (combined Order Entry and Specimen Navigator) *

Specimen Types (combined Order Entry and Specimen Navigator) *

Blood

Body Fluids (types sent through AOEs)

Specimen Navigator Specimen Types

Specimen Navigator Specimen Sources

Specimen Navigator Short Name

HORIZON106

Ordering info (EPIC SmartText)

Horizon Genetic carrier screening helps determine the risk of passing on serious genetic conidiations to their child. It can be performed either before or during pregnancy.

IP Orderable (inpatient)

Yes

OP Orderable (outpatient)

Yes

AOEs *

AP AOEs

Special History

Build Comments

Filter *

Cerner Site Restrict

AML/Quest Labs
ARUP Laboratories
ARUP Laboratory
BioReference Health LLC
Cohen Children General Peds at Mineola
Cohen Children's General Peds at Islandi
Counsyl Laboratory
EHS Mobile 1 Marcus POC
Eurofins_NTD Genetics
Executive Headquarters-2000 Marcus
Family Service League-92473
Forest Hills Hospital Laboratory
Gene DX Laboratory
Glen Cove Hospital Laboratory
Hofstra University POC
Huntington Hospital Laboratory
Illumina Laboratories
Jet Blue Terminal 5 POC
Jones Beach Theater
LIJ Valley Stream Hospital Laboratory
LabCorp
Lenox Hill Laboratory
Long Island Ducks POC
Long Island Jewish Med Ctr

Manhattan Eye
Ear & Throat Hospital Lab
Mayo Medical Labs
Mid Suffolk Pediatrics-Mt Sinai-5975
NHPP Cohen's General Peds at Kew Gardens
NHPP Medical Oncology at Woodbury
Nassau County DOH POC
Natera Laboratory
North Shore University Laboratory
Northern Westchester Hospital Labs
Northshore Holiday House
Northwell Greenwich Village Hospital
Northwell Health Best Health Center
Northwell Health Direct-Special Events
Northwell Health Laboratories
Northwell Health System
PRL Laboratory
Peconic Bay Medical Center Laboratory
Phelps Memorial Hospital Labs
Pine Care Center
Plainview Hospital Laboratory
Point Of Care Testing
SIUH North Laboratory
SIUH Pouch Terminal Laboratory
SIUH Prince’s Bay Division Laboratory
SSUH Laboratory
South Oaks Hospital POC Lab
South Shore Family Practice POC
Syosset Hospital Laboratory
Wellbridge Addiction Treatment POC

Cerner Results

Result Desc	Result display	Result PDM
Leber Congenital Amaurosis 2	RPE65	225281EP
Rhizomelic Chondrodysplasia Punctata 1	PEX7	225281IG
Ornithine Aminotransferase Deficiency	OAT	225281HE
Chronic Granulomatous Disease, CYBA-Rel	CYBA	225281BB
Polycystic Kidney Disease, Autosomal Rec	PKHD1	225281HK
Metachromatic Leukodystrophy, ARSA	ARSA	225281FM
3-Phosphoglycerate Dehydrogenase Deficie	PHGDH	225281E
Deafness, Autosomal Recessive 77	LOXHD1	225281CE
Glycogen Storage Disease, Type 1A	G6PC	225281DK
Familial Dysautonomia	IKBKAP	225281CQ
Citrullinemia, Type 1	ASS1	225281BF
Lipoamide Dehydrogenase Deficiency	DLD	225281FC
Megalencephalic Leukoencephalopathy	MLC1	225281FL
Abetalipoproteinemia	MTTP	225281G
Bloom Syndrome	BLM	225281AO
Alport Syndrome, COL4A3-Related	COL4A3	225281R
Renal Tubular Acidosis and deafness	ATP6V1B1	225281IB
Medium Chain Acyl-CoA Dehydrogenase Def	ACADM	225281FK
Batten Disease	CLN3	225281AK
Spinal Muscular Atrophy	SMN1	225281IS
Zellweger Spectrum Disorders, PEX1-Relat	PEX1	225281JK
Retinitis Pigmentosa 26	CERKL	225281ID
Corticosterone Methyloxidase Deficiency	CYP11B2	225281BX
Adrenoleukodystrophy	ABCD1	225281M
Multiple Sulphatase Deficiency	SUMF1	225281GK
Usher Syndrome, Type 1F	PCDH15	225281JB
Methylmalonic Aciduria and Homocyst cbIC	MMACHC	225281FO
Inclusion Body Myopathy 2	GNE	225281EI
Glycogen Storage Disease, Type 3	AGL	225281DN
Homocystinuria due to Defic of MTHFR	MTHFR NAT	225281EB
Hermansky-Pudlak Syndrome, HPS3-Related	HPS3	225281DY
Panel Notes	PANEL NOTES	225043B
Report Note	REPORTNOTE	225043C
PDF Report	PDF NAT	225043E
Infantile Cerebral and Cerebellar Atroph	MED17	225281EJ
Retinitis Pigmentosa 28	FAM161A	225281IE
Usher Syndrome, Type 3	CLRN1	225281JD
Glycogen Storage Disease, Type 7	PFKM	225281DQ
Asparagine Synthetase Deficiency	ASNS	225281Y
Primary Ciliary Dyskinesia DNAI2-Related	DNAI2	225281HQ
Primary Hyperoxaluria, Type 3	HOGA1	225281HT
Phenylketonuria	PAH	225281HI
Cerebrotendinous Xanthomatosis	CYP27A1	225281AW
Ataxia-Telangiectasia	ATM	225281AB
Wolman Disease	LIPA	225281JH
Omenn Syndrome	RAG2	225281HD
Pontocerebellar Hypoplasia, RARS2-Relate	RARS2	225281HN
Autoimmune Polyglandular Syndrome	AIRE	225281HL
Congenital Disorder of Glycosylation 1A	PMM2	225281BN
Primary Ciliary Dyskinesia DNAI1-Related	DNAI1	225281HP
Isovaleric Acidemia	IVD	225281EK
Factor XI Deficiency	F11	225281CP
Mucopolysaccharidosis, Type I	IDUA	225281GB
Canavan Disease	ASPA	225281AP
Tay-Sachs Disease	HEXA	225281IW
Congenital Amegakaryocytic Thrombocytope	MPL	225281BM
Mitochondrial Myopathy and Sideroblastic	PUS1	225281FX
Usher Syndrome, Type 2A	USH2A	225281JC
Familial Mediterranean Fever	MEFV	225281CU
Zellweger Spectrum Disorders, PEX2-Relat	PEX2	225281JL
Beta-Hemoglobinopathies	HBB	225281AL
Walker-Warburg Syndrome	FKTN	225281JF
Zellweger Spectrum Disorders, PEX6-Relat	PEX6	225281JM
Congenital Insensivity to Pain with Anhi	NTRK1	225281BR
Costeff Syndrome	OPA3	225281BY
Footnotes	FOOTNTE	225043D
Glycogen Storage Disease, Type 2	GAA	225281DM
Smith-Lemli-Opitz Syndrome	DHCR7	225281IR
Autism Spectrum, Epilepsy and Arthrogryp	SLC35A3	225281AC
Niemann-Pick Disease, Types A/B	SMPD1	225281GW
Fanconi Anemia, Group A	FANCA	225281CW
Retinitis Pigmentosa 59	DHDDS	225281IF
Limb-Girdle Muscular Dystrophy, Type 2B	DYSF	225281EX
Dyskeratosis Congenita	RTEL1	225281CG
Glycogen Storage Disease, Type 5	PYGM	225281DP
Bardet-Biedl Syndrome, BBS2-Related	BBS2	225281AF
Retinitis Pigmentosa 25	EYS	225281IC
Mitochondrial Complex 1 Defic NDUFS6	NDUFS6	225281FV
Primary Ciliary Dyskinesia DNAH5-Related	DNAH5	225281HO
Factor IX Deficiency	F9	225281CO
Hereditary Spastic Paraparesis, Type 49	TECPR2	225281DW
Non-Syndromic Hearing Loss, GJB2-Related	GJB2	225281HA
Osteopetrosis, Infantile Malignant	TCIRG1	225281HG
Choreoacanthocytosis	VPS13A	225281AZ
Familial Hypercholesterolemia, LDLR	LDLR	225281CR
Mucolipidosis, Type IV	MCOLN1	225281GA
Cystinosis	CTNS	225281CC
Acute Infantile Liver Failure	TRMU	225281K
Mitochondrial Complex 1 Defic NDUFAF5	NDUFAF5	225281FU
Congenital Myasthenic Syndrome, RAPSN-Re	RAPSN	225281BT
Tyrosinemia, Type I	FAH	225281IX
Maple Syrup Urine Disease, Type 1B	BCKDHB	225281FI
Gaucher Disease	GBA	225281DD
Alpha-Thalassemia	HBA1/HBA2	225281P
Cystic Fibrosis	CFTR	225281CB
Enhanced S-Cone Syndrome	NR2E3	225281CL
Duchenne/Becker Muscular Dystrophy	DMD	225281CF
Joubert Syndrome 2	TMEM216	225281EL
Myoneurogastrointestinal Encephalopathy	TYMP1	225281GM
Galactosemia	GALT	225281DC
Glycogen Storage Disease, Type 4	GBE1	225281DO
Fragile X Syndrome	FMR1	225281CZ
Fanconi Anemia, Group C	FANCC	225281CX
Ehlers-Danlos Syndrome, Type VIIC	ADAMTS2	225281CI
Wilson Disease	ATP7B	225281JG
Nemaline Myopathy	NEB	225281GP
Familial Hyperinsulinism	ABCC8	225281CT
Microphthalmia/Anophthalmia	VSX2	225281FT
Report Summary	REPORT SUM	225043A
Pontocerebellar Hypoplasia, Type 1A	VRK1	225281HM
Pontocerebellar Hypoplasia, Type 2D	SEPSECS	225281HU
Carnitine Palmitoyltransferase II Def	CPT2	225281AT

Actual Epic Build 8/27/2025

PROCEDURE ID

186089

PDM

245346

ORDER DISPLAY NAME

Horizon 106 Carrier Screen

PROCEDURE NAME

HORIZON 106 CARRIER SCREEN

PROCEDURE MASTER NUMBER

LAB14344

SHORT PROCEDURE NAME

HORIZON 106 CARRIER SCREEN

CATEGORY CODE

21.0

CATEGORY CODE RECORD NAME

LAB MOLECULAR DIAGNOSTICS ORDERABLES

SYNONYMS

HORIZON106
NATERA

CLINICALLY ACTIVE

Yes

ORDERABLE

Yes

PERFORMABLE

Yes

FILTER GENOMICS

REFERENCE LINK URL

https://labs.northwell.edu/epic/test/186089

ORDERING INSTRUCTIONS

DEFAULT SPECIMEN TYPE

Blood

SPECIMEN TYPE PICK LIST

Blood

SPECIMEN TYPE LIST

Blood

OP SPECIMEN TYPE LIST

SPECIMEN SOURCE PICK LIST

Blood, Arterial
Blood, Capillary
Blood, Central Line
Blood, Venous

SPECIMEN SOURCE DEFAULT - MALE

Blood, Venous

SPECIMEN SOURCE DEFAULT - FEMALE

Blood, Venous

SPECIMEN SOURCE LIST

OP SPECIMEN SOURCE LIST

IP LAB TEST COMPONENTS FOR REPORT

OP LAB TEST COMPONENTS FOR REPORT

ORDER QUESTIONS

["3045300170", "3045300171", "3045300173", "3046000042", "3045300061", "3045300062", "3045300105", "3048500000"]

ORDER QUESTIONS RECORD NAME

NH IP HOME COLLECT DATE
NH IP HOME COLLECT DAYS
NH IP HOME COLLECT MEDICALLY NECESSARY
NH IP ETHNICITY
NH IP PAN ETHNIC ACKNOWLEDGEMENT
NH IP PATIENT PREGNANT
NH IP CONSENT ORDER COMMENT

INPATIENT ORDER QUESTIONS

["3048500000"]

INPATIENT ORDER QUESTIONS RECORD NAME

ORDER SPECIFIC QUESTION OVERRIDE

INPATIENT QUESTION OVERRIDE

LOCATION RESTRICT LIST IP

LOCATION RESTRICT LIST IP RECORD NAME

LOCATION RESTRICT LIST INCLUDE IP

LOCATION RESTRICT LIST OP

LOCATION RESTRICT LIST OP RECORD NAME

LOCATION RESTRICT LIST INCLUDES OP

EDP AMB ORDER SPECIFIC QUESTIONS RECORD NAME

NH IP PATIENT COMPLETED CONSENT

EDP IP ORDER SPECIFIC QUESTIONS RECORD NAME

NH IP PATIENT COMPLETED CONSENT

EDP IP SPECIMEN SOURCE

EDP OP SPECIMEN SOURCE

EDP IP SPECIMEN TYPE

EDP OP SPECIMEN TYPE

DERIVED EDP IP BUTTONS S

DERIVED EDP IP BUTTONS T

DERIVED EDP OP BUTTONS S

DERIVED EDP OP BUTTONS T

IP ORDERABLE

OP ORDERABLE

STANDARD LAB COMPONENTS

STANDARD LAB COMPONENTS RECORD NAME

COMPONENT DATA REQUIREMENT

EPIC OP AOEs

Question ID	Question Name	Question	Response Type	Response List	Require Response
3045300061	NH IP PAN ETHNIC ACKNOWLEDGEMENT	H14 Pan-Ethnic Acknowledgement	Yes/No		No
3045300062	NH IP PATIENT PREGNANT	Patient Pregnant	Yes/No		No
3045300105	NH IP CONSENT ORDER COMMENT	Consent Order Comment	Free Text		Yes
3045300170	NH IP HOME COLLECT DATE	Start Date	Date		Yes
3045300171	NH IP HOME COLLECT DAYS	Days	Custom List	Monday Tuesday Wednesday Thursday Friday Saturday Sunday	Yes
3045300173	NH IP HOME COLLECT MEDICALLY NECESSARY	Medically Necessary?	Yes/No		Yes
3046000042	NH IP ETHNICITY	Ethnicity	Custom List	African American Ashkenazi Jewish Caucasion East Asian French Canadian/Cajun Hispanic Mediterranean South-East Asian Sepahrdic Jewish Other	Yes
3048500000	NH IP PATIENT COMPLETED CONSENT	Patient completed consent?	Yes/No		Yes

EPIC IP AOEs

Question ID	Question Name	Question	Response Type	Response List	Require Response
3048500000	NH IP PATIENT COMPLETED CONSENT	Patient completed consent?	Yes/No		Yes

EPIC Components (results - crosswalked through Cerner)

Component ID	Component Name	Base Name	Common Name	External Name	Cerner Result PDM
3047803246.0	LEBER CONGENITAL AMAUROSIS 2	LEBER	LEBER CONGENITAL AMAUROSIS 2	Leber Congenital Amaurosis 2	225281EP
3047804565.0	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA 1	RHCHPUTY1	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA 1	Rhizomelic Chondrodysplasia Punctata 1	225281IG
3047803886.0	ORNITHINE AMINOTRANSFERASE DEFICIENCY	ORNITHAMDEF	ORNITHINE AMINOTRANSFERASE DEFICIENCY	Ornithine Aminotransferase Deficiency	225281HE
3047801794.0	CHRONIC GRANULOMATOUS DISEASE, CYBA-REL	CGD	CHRONIC GRANULOMATOUS DISEASE, CYBA REL	Chronic Granulomatous Disease, CYBA-Rel	225281BB
3047804208.0	POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL REC	POLYCYSKID	POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL REC	Polycystic Kidney Disease, Autosomal Rec	225281HK
3047803445.0	METACHROMATIC LEUKODYSTROPHY, ARSA	METALEUKO	METACHROMATIC LEUKODYSTROPHY, ARSA	Metachromatic Leukodystrophy, ARSA	225281FM
3047800786.0	3-PHOSPHOGLYCERATE DEHYDROGENASE DEFICIE	3PHOSPHODD	3 PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY	3-Phosphoglycerate Dehydrogenase Deficie	225281E
3047802112.0	DEAFNESS, AUTOSOMAL RECESSIVE 77	DEAFAUTORE77	DEAFNESS, AUTOSOMAL RECESSIVE 77	Deafness, Autosomal Recessive 77	225281CE
3047802635.0	GLYCOGEN STORAGE DISEASE, TYPE 1A	GLYCSD1A	GLYCOGEN STORAGE DISEASE, TYPE 1A	Glycogen Storage Disease, Type 1A	225281DK
3047805478.0	HORIZON 274 CARRIER SCREEN FAMILIAL DYSAUTONOMIA	FAMDYSA	HORIZON 274 CARRIER SCREEN FAMILIAL DYSAUTONOMIA	Familial Dysautonomia	225281CQ
3047801812.0	CITRULLINEMIA, TYPE 1	CITRULLINEMI	CITRULLINEMIA, TYPE 1	Citrullinemia, Type 1	225281BF
3047805550.0	LIPOAMIDE DEHYDROGENASE DEFICIENCY	LDD	LIPOAMIDE DEHYDROGENASE DEFICIENCY	Lipoamide Dehydrogenase Deficiency	225281FC
3047803421.0	MEGALENCEPHALIC LEUKOENCEPHALOPATHY	MEGLEUKENCE	MEGALENCEPHALIC LEUKOENCEPHALOPATHY	Megalencephalic Leukoencephalopathy	225281FL
3047805363.0	ABETALIPOPROTEINEMIA	ABETALIPO	ABETALIPOPROTEINEMIA	Abetalipoproteinemia	225281G
3047805407.0	HORIZON 274 CARRIER SCREEN BLOOM SYNDROME	HORBLOOMSYN	HORIZON 274 CARRIER SCREEN BLOOM SYNDROME	Bloom Syndrome	225281AO
3047800962.0	ALPORT SYNDROME, COL4A3-RELATED	ALPORTSY	ALPORT SYNDROME, COL4A3 RELATED	Alport Syndrome, COL4A3-Related	225281R
3047804530.0	RENAL TUBULAR ACIDOSIS AND DEAFNESS	RENTUAC	RENAL TUBULAR ACIDOSIS AND DEAFNESS	Renal Tubular Acidosis and deafness	225281IB
3047803418.0	MEDIUM CHAIN ACYL-COA DEHYDROGENASE DEF	ACYLCOA	MEDIUM CHAIN ACYL COA DEHYDROGENASE DEF	Medium Chain Acyl-CoA Dehydrogenase Def	225281FK
3047801318.0	BATTEN DISEASE	BATTEN	BATTEN DISEASE	Batten Disease	225281AK
3047805657.0	HORIZON 274 CARRIER SCREEN SPINAL MUSCULAR ATROPHY	SMA	SMA, ATROPHY	Spinal Muscular Atrophy	225281IS
3047805329.0	ZELLWEGER SPECTRUM DISORDERS, PEX1-RELAT	ZELLWEGE	ZELLWEGER SPECTRUM DISORDERS, PEX1 RELAT	Zellweger Spectrum Disorders, PEX1-Relat	225281JK
3047804557.0	RETINITIS PIGMENTOSA 26	RETPIG26	RETINITIS PIGMENTOSA 26	Retinitis Pigmentosa 26	225281ID
3047801993.0	CORTICOSTERONE METHYLOXIDASE DEFICIENCY	CORTMETHDEF	CORTICOSTERONE METHYLOXIDASE DEFICIENCY	Corticosterone Methyloxidase Deficiency	225281BX
3047800891.0	ADRENOLEUKODYSTROPHY	ADRENOLEUK	ADRENOLEUKODYSTROPHY	Adrenoleukodystrophy	225281M
3047803650.0	MULTIPLE SULPHATASE DEFICIENCY	MULTSUPHDEF	MULTIPLE SULPHATASE DEFICIENCY	Multiple Sulphatase Deficiency	225281GK
3047805189.0	USHER SYNDROME, TYPE 1F	USHT1F	USHER SYNDROME, TYPE 1F	Usher Syndrome, Type 1F	225281JB
3047803502.0	METHYLMALONIC ACIDURIA AND HOMOCYST CBIC	MEACHOCBLC	MEACHOCBLC	Methylmalonic Aciduria and Homocyst cbIC	225281FO
3047805526.0	INCLUSION BODY MYOPATHY 2	IBM2	INCLUSION BODY MYOPATHY 2	Inclusion Body Myopathy 2	225281EI
3047802638.0	GLYCOGEN STORAGE DISEASE, TYPE 3	NTRAGSDT3	GLYCOGEN STORAGE DISEASE, TYPE 3	Glycogen Storage Disease, Type 3	225281DN
3047802897.0	HOMOCYSTINURIA DUE TO DEFIC OF MTHFR	HOMOCYSURD	HOMOCYSTINURIA DUE TO DEFIC OF MTHFR	Homocystinuria due to Defic of MTHFR	225281EB
3047802779.0	HERMANSKY-PUDLAK SYNDROME, HPS3-RELATED	NTRAHERPUD	HERMANSKY PUDLAK SYNDROME, HPS3 RELATED	Hermansky-Pudlak Syndrome, HPS3-Related	225281DY
3047803954.0	PANEL NOTES	PANELNOTE	PANEL NOTES	Panel Notes	225043B
3047805629.0	REPORT NOTES	REPORTNOTE	REPORTNOTE, NOTES	Report Notes	225043C
3047805609.0	PDF REPORT	PDF	PDF, REPORT	PDF	225043E
3047803051.0	INFANTILE CEREBRAL AND CEREBELLAR ATROPH	CEREBRAL	INFANTILE CEREBRAL AND CEREBELLAR ATROPH	Infantile Cerebral and Cerebellar Atroph	225281EJ
3047804558.0	RETINITIS PIGMENTOSA 28	RETPIG28	RETINITIS PIGMENTOSA 28	Retinitis Pigmentosa 28	225281IE
3047805191.0	USHER SYNDROME, TYPE 3	USHT3	USHER SYNDROME, TYPE 3	Usher Syndrome, Type 3	225281JD
3047802641.0	GLYCOGEN STORAGE DISEASE, TYPE 7	NTRAGSDT7	GLYCOGEN STORAGE DISEASE, TYPE 7	Glycogen Storage Disease, Type 7	225281DQ
3047801196.0	ASPARAGINE SYNTHETASE DEFICIENCY	ASPARAGINESD	ASPARAGINE SYNTHETASE DEFICIENCY	Asparagine Synthetase Deficiency	225281Y
3047804252.0	PRIMARY CILIARY DYSKINESIA DNAI2-RELATED	PCDDNAI2	PRIMARY CILIARY DYSKINESIA, DNAI2 RELATED	Primary Ciliary Dyskinesia, DNAI2-Related	225281HQ
3047804258.0	PRIMARY HYPEROXALURIA, TYPE 3	PRHYTY3	PRIMARY HYPEROXALURIA, TYPE 3	Primary Hyperoxaluria, Type 3	225281HT
3047804077.0	PHENYLKETONURIA	PHENYLKE	PHENYLKETONURIA	Phenylketonuria	225281HI
3047805420.0	CEREBROTENDINOUS XANTHOMATOSIS	CERBROTEND	CEREBROTENDINOUS XANTHOMATOSIS	Cerebrotendinous Xanthomatosis	225281AW
3047805391.0	ATAXIA-TELANGIECTASIA	ATAXIATELAN	ATAXIA TELANGIECTASIA	Ataxia-Telangiectasia	225281AB
3047805290.0	WOLMAN DISEASE	WOLDIS	WOLMAN DISEASE	Wolman Disease	225281JH
3047803857.0	OMENN SYNDROME	OMENSYN	OMENN SYNDROME	Omenn Syndrome	225281HD
3047804212.0	PONTOCEREBELLAR HYPOPLASIA, RARS2-RELATE	PONRARS2	PONTOCEREBELLAR HYPOPLASIA, RARS2 RELATE	Pontocerebellar Hypoplasia, RARS2-Relate	225281HN
3047801220.0	AUTOIMMUNE POLYGLANDULAR SYNDROME	AUTOPOLYSYN	AUTOIMMUNE POLYGLANDULAR SYNDROME	Autoimmune Polyglandular Syndrome	225281HL
3047801967.0	CONGENITAL DISORDER OF GLYCOSYLATION 1A	CONDOGLYC1A	CONGENITAL DISORDER OF GLYCOSYLATION 1A	Congenital Disorder Of Glycosylation 1A	225281BN
3047804251.0	PRIMARY CILIARY DYSKINESIA DNAI1-RELATED	PCDDNAI1	PRIMARY CILIARY DYSKINESIA, DNAI1 RELATED	Primary Ciliary Dyskinesia, DNAI1-Related	225281HP
3047805541.0	ISOVALERIC ACIDEMIA	ISOVALERIC	ISOVALERIC ACIDEMIA	Isovaleric Acidemia	225281EK
3047805476.0	FACTOR XI DEFICIENCY	FACTORXI	FACTOR XI DEFICIENCY	Factor XI Deficiency	225281CP
3047803636.0	MUCOPOLYSACCHARIDOSIS, TYPE I	MUCOPOLYSAC	MUCOPOLYSACCHARIDOSIS, TYPE I	Mucopolysaccharidosis, Type I	225281GB
3047805414.0	CANAVAN DISEASE	CANAVAN	CANAVAN DISEASE	Canavan Disease	225281AP
3047804913.0	TAY-SACHS DISEASE	TAYSACHSDIS	TAY SACHS DISEASE	Tay-Sachs Disease	225281IW
3047801966.0	CONGENITAL AMEGAKARYOCYTIC THROMBOCYTOPE	CONGAMETRHO	CONGENITAL AMEGAKARYOCYTIC THROMBOCYTOPE	Congenital Amegakaryocytic Thrombocytope	225281BM
3047803537.0	MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC	MITOMYOSID	MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC	Mitochondrial Myopathy and Sideroblastic	225281FX
3047805190.0	USHER SYNDROME, TYPE 2A	USHT2A	USHER SYNDROME, TYPE 2A	Usher Syndrome, Type 2A	225281JC
3047805483.0	FAMILIAL MEDITERRANEAN FEVER	FAMMED	FAMILIAL MEDITERRANEAN FEVER	Familial Mediterranean Fever	225281CU
3047805330.0	ZELLWEGER SPECTRUM DISORDERS, PEX2-RELAT	ZELLWEGE	ZELLWEGER SPECTRUM DISORDERS, PEX2 RELAT	Zellweger Spectrum Disorders, PEX2-Relat	225281JL
3047801369.0	BETA-HEMOGLOBINOPATHIES	BHEMOGLOB	BETA HEMOGLOBINOPATHIES	Beta-Hemoglobinopathies	225281AL
3047805689.0	WALKER-WARBURG SYNDROME	WWSYND	WWSYND, SYNDROME	Walker-Warburg Syndrome	225281JF
3047805331.0	ZELLWEGER SPECTRUM DISORDERS, PEX6-RELAT	ZELLWEGE	ZELLWEGER SPECTRUM DISORDERS, PEX6 RELAT	Zellweger Spectrum Disorders, PEX6-Relat	225281JM
3047801974.0	CONGENITAL INSENSIVITY TO PAIN WITH ANHI	CONGINSPWA	CONGENITAL INSENSIVITY TO PAIN WITH ANHI	Congenital Insensivity to Pain with Anhi	225281BR
3047802001.0	COSTEFF SYNDROME	COSTEFFSYN	COSTEFF SYNDROME	Costeff Syndrome	225281BY
3047805495.0	NATERA FOOTNOTES	FOOTNOTES	NATERA FOOTNOTES	Natera Footnotes	225043D
3047802637.0	GLYCOGEN STORAGE DISEASE, TYPE 2	NTRAGSDT2	GLYCOGEN STORAGE DISEASE, TYPE 2	Glycogen Storage Disease, Type 2	225281DM
3047805651.0	SMITH-LEMLI-OPITZ SYNDROME	SLOS	SLOS, SYNDROME	Smith-Lemli-Opitz Syndrome	225281IR
3047801217.0	AUTISM SPECTRUM, EPILEPSY AND ARTHROGRYP	AUTISMSPEC	AUTISM SPECTRUM, EPILEPSY AND ARTHROGRYP	Autism Spectrum, Epilepsy and Arthrogryp	225281AC
3047803747.0	NIEMANN-PICK DISEASE, TYPES A/B	NIEMPICKAB	NIEMANN PICK DISEASE, TYPES A B	Niemann-Pick Disease, Types A/B	225281GW
3047802418.0	FANCONI ANEMIA, GROUP A	FANCONIANGRA	FANCONI ANEMIA, GROUP A	Fanconi Anemia, Group A	225281CW
3047804559.0	RETINITIS PIGMENTOSA 59	RETPIG59	RETINITIS PIGMENTOSA 59	Retinitis Pigmentosa 59	225281IF
3047803287.0	LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2B	MUSCDYST2B	LIMB GIRDLE MUSCULAR DYSTROPHY, TYPE 2B	Limb-Girdle Muscular Dystrophy, Type 2B	225281EX
3047802247.0	DYSKERATOSIS CONGENITA	DYSKERCONG	DYSKERATOSIS CONGENITA	Dyskeratosis Congenita	225281CG
3047802640.0	GLYCOGEN STORAGE DISEASE, TYPE 5	NTRAGSDT5	GLYCOGEN STORAGE DISEASE, TYPE 5	Glycogen Storage Disease, Type 5	225281DP
3047805399.0	BARDET-BIEDL SYNDROME, BBS2-RELATED	BBS2	BARDET BIEDL SYNDROME, BBS2 RELATED	Bardet-Biedl Syndrome, BBS2-Related	225281AF
3047804556.0	RETINITIS PIGMENTOSA 25	RETPIG25	RETINITIS PIGMENTOSA 25	Retinitis Pigmentosa 25	225281IC
3047803536.0	MITOCHONDRIAL COMPLEX 1 DEFIC NDUFS6	MITOCHONCOM	MITOCHONDRIAL COMPLEX 1 DEFIC NDUFS6	Mitochondrial Complex 1 Defic NDUFS6	225281FV
3047804250.0	PRIMARY CILIARY DYSKINESIA DNAH5-RELATED	PCDDNAH5	PRIMARY CILIARY DYSKINESIA, DNAH5 RELATED	Primary Ciliary Dyskinesia, DNAH5-Related	225281HO
3047802392.0	FACTOR IX DEFICIENCY	FACTORIXDEF	FACTOR IX DEFICIENCY	Factor IX Deficiency	225281CO
3047802774.0	HEREDITARY SPASTIC PARAPARESIS, TYPE 49	NTRAHSPT49	HEREDITARY SPASTIC PARAPARESIS, TYPE 49	Hereditary Spastic Paraparesis, Type 49	225281DW
3047803765.0	NON-SYNDROMIC HEARING LOSS, GJB2-RELATED	NONSYNDRHL	NON SYNDROMIC HEARING LOSS, GJB2 RELATED	Non-Syndromic Hearing Loss, GJB2-Related	225281HA
3047803894.0	OSTEOPETROSIS, INFANTILE MALIGNANT	OSTPETROSIS	OSTEOPETROSIS, INFANTILE MALIGNANT	Osteopetrosis, Infantile Malignant	225281HG
3047801780.0	CHOREOACANTHOCYTOSIS	CHOREOACAN	CHOREOACANTHOCYTOSIS	Choreoacanthocytosis	225281AZ
3047802411.0	FAMILIAL HYPERCHOLESTEROLEMIA, LDLR	HYPCHFALDLR	FAMILIAL HYPERCHOLESTEROLEMIA, LDLR	Familial Hypercholesterolemia, LDLR	225281CR
3047803631.0	MUCOLIPIDOSIS, TYPE IV	MUCOLIPID	MUCOLIPIDOSIS, TYPE IV	Mucolipidosis, Type IV	225281GA
3047805457.0	CYSTINOSIS	CYSTINOSIS	CYSTINOSIS	Cystinosis	225281CC
3047800852.0	ACUTE INFANTILE LIVER FAILURE	ACINFLIVFAIL	ACUTE INFANTILE LIVER FAILURE	Acute Infantile Liver Failure	225281K
3047803535.0	MITOCHONDRIAL COMPLEX 1 DEFIC NDUFAF5	MITOCHONCOM	MITOCHONDRIAL COMPLEX 1 DEFIC NDUFAF5	Mitochondrial Complex 1 Defic NDUFAF5	225281FU
3047801976.0	CONGENITAL MYASTHENIC SYNDROME, RAPSN-RE	CONMYASYNRA	CONGENITAL MYASTHENIC SYNDROME, RAPSN RE	Congenital Myasthenic Syndrome, RAPSN-Re	225281BT
3047805148.0	TYROSINEMIA, TYPE I	TYROTY1	TYROSINEMIA, TYPE I	Tyrosinemia, Type I	225281IX
3047803399.0	MAPLE SYRUP URINE DISEASE, TYPE 1B	MAPLEUR	MAPLE SYRUP URINE DISEASE, TYPE 1B	Maple Syrup Urine Disease, Type 1B	225281FI
3047805505.0	GAUCHER DISEASE	GAUCHER	GAUCHER DISEASE	Gaucher Disease	225281DD
3047800961.0	ALPHA-THALASSEMIA	ATHALASS	ALPHA THALASSEMIA	Alpha-Thalassemia	225281P
3047805455.0	CYSTIC FIBROSIS	CYSTICFIB	CYSTIC FIBROSIS	Cystic Fibrosis	225281CB
3047802307.0	ENHANCED S-CONE SYNDROME	ENHASCONSY	ENHANCED S CONE SYNDROME	Enhanced S-Cone Syndrome	225281CL
3047802242.0	DUCHENNE/BECKER MUSCULAR DYSTROPHY	DUCHBECKMD	DUCHENNE BECKER MUSCULAR DYSTROPHY	Duchenne/Becker Muscular Dystrophy	225281CF
3047805543.0	JOUBERT SYNDROME 2	JOUBERTSY2	JOUBERT SYNDROME 2	Joubert Syndrome 2	225281EL
3047803691.0	MYONEUROGASTROINTESTINAL ENCEPHALOPATHY	MYPGASINTENC	MYONEUROGASTROINTESTINAL ENCEPHALOPATHY	Myoneurogastrointestinal Encephalopathy	225281GM
3047805503.0	GALACTOSEMIA	GALACTOSEMIA	GALACTOSEMIA	Galactosemia	225281DC
3047802639.0	GLYCOGEN STORAGE DISEASE, TYPE 4	NTRAGSDT4	GLYCOGEN STORAGE DISEASE, TYPE 4	Glycogen Storage Disease, Type 4	225281DO
3047805497.0	FRAGILE X SYNDROME	FRAGILEX	FRAGILE X SYNDROME	Fragile X Syndrome	225281CZ
3047802419.0	FANCONI ANEMIA, GROUP C	FANCONIANGRC	FANCONI ANEMIA, GROUP C	Fanconi Anemia, Group C	225281CX
3047802281.0	EHLERS-DANLOS SYNDROME, TYPE VIIC	EHLDANSYNT93	EHLERS DANLOS SYNDROME, TYPE VIIC	Ehlers-Danlos Syndrome, Type Viic	225281CI
3047805694.0	WILSON DISEASE	WILSONDIS	WILSONDIS, DISEASE	Wilson Disease	225281JG
3047805581.0	NEMALINE MYOPATHY	NEMALINEMYO	NEMALINEMYO, MYOPATHY	Nemaline Myopathy	225281GP
3047805481.0	HORIZON 274 CARRIER SCREEN FAMILIAL HYPERINSULINISM	FAMHYPER	HORIZON 274 CARRIER SCREEN FAMILIAL HYPERINSULINISM	Familial Hyperinsulinism	225281CT
3047803518.0	MICROPHTHALMIA/ANOPHTHALMIA	MICROPHANO	MICROPHTHALMIA ANOPHTHALMIA	Microphthalmia/Anophthalmia	225281FT
3047804538.0	REPORT SUMMARY	REPRTSUM	REPORT SUMMARY	Report Summary	225043A
3047804213.0	PONTOCEREBELLAR HYPOPLASIA, TYPE 1A	PONTYPE1A	PONTOCEREBELLAR HYPOPLASIA, TYPE 1A	Pontocerebellar Hypoplasia, Type 1A	225281HM
3047804214.0	PONTOCEREBELLAR HYPOPLASIA, TYPE 2D	PONTYPE2D	PONTOCEREBELLAR HYPOPLASIA, TYPE 2D	Pontocerebellar Hypoplasia, Type 2D	225281HU
3047801645.0	CARNITINE PALMITOYLTRANSFERASE II DEF	CPTDEF	CARNITINE PALMITOYLTRANSFERASE II DEF	Carnitine Palmitoyltransferase II Def	225281AT

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Epic Build / Desired Build Test Compendium
Welcome to the new Northwell Health Labs Epic Build / Desired Build Test Directory! Please email ClinicalLabInformatics@northwell.edu with any typos, corrections or issues.

Actual Epic Build 8/27/2025