Epic Build / Desired Build Test Compendium
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Horizon 274 Carrier Screen (Pan-Ethnic Panel)

Desired Epic Build * = editable field

Cerner Primary Mnemonic:

Horizon 274 Carrier Screen

PDM

225281

Informatics - Workgroup

Molecular-send outs

Synonyms *

HCS
WOMEN'S HEALTH
CARRIER SCREENING
NATERA

Display Name *

Horizon 274 Carrier Screen (Pan-Ethnic Panel)

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

Ordering info (EPIC SmartText)

Horizon provides comprehensive screening using the latest technology, including next-generation sequencing. Horizon screens for genes associated with specific inherited genetic conditions. 274 genes and variants are tested

IP Orderable (inpatient)

Yes

OP Orderable (outpatient)

Yes

AOEs *

AP AOEs

Special History

Build Comments

Filter *

genetics

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 Health Greenwich Village
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 Health Best Health Center
Northwell Health Direct-Special Events
Northwell He

Cerner Results

Result Desc	Result display	Result PDM
Limb-Girdle Muscular Dystrophy, Type 2A	CAPN3	225281EW
Alport Syndrome, COL4A4-Related	COL4A4	225281S
Meckel-Gruber Syndrome, Type 1	MKS1	225281FJ
Citrin Deficiency	SLC25A13	225281BE
Spinal Muscular Atrophy	SMN1	225281IS
Methylmalonic Aciduria, Type mut(0)	MUT	225281FS
Severe Combined Immunodeficiency, Type A	DCLRE1C	225281IP
Congenital Myasthenic Syndrome, RAPSN-Re	RAPSN	225281BT
Zellweger Spectrum Disorders, PEX10-Rela	PEX10	225281JN
Walker-Warburg Syndrome	FKTN	225281JF
Fabry Disease	GLA	225281CN
Achondrogenesis, Type 1B	SLC26A2	225281H
Corticosterone Methyloxidase Deficiency	CYP11B2	225281BX
Lamellar Ichthyosis, Type 1	TGM1	225281EO
Dyskeratosis Congenita	RTEL1	225281CG
Familial Neuropophyseal Diabetes Insipid	AQP2	225281CV
Glycine Encephalopathy, GLDC-Rel	GLDC	225281DJ
Leber Congenital Amaurosis, Type CEP290	CEP290	225281EQ
Glutaric Acidemia, Type 2A	ETFA	225281DF
Mucopolysaccharidosis, Type IX	HYAL1	225281GJ
Limb-Girdle Muscular Dystrophy, Type 2C	SCGC	225281EY
Nemaline Myopathy	NEB	225281GP
Hypophosphatasia, ALPL-Related	ALPL	225281EH
Fumarase Deficiency	FH	225281DA
Neuronal Ceroid Lipofuscinosis, CLN8	CLN8	225281GS
Severe Combined Immunodeficiency ADA-Rel	ADA	225281IO
Fanconi Anemia, Group G	FANCG	225281CY
Spondylothoracic Dysostosis	MESP2	225281IT
Lipoamide Dehydrogenase Deficiency	DLD	225281FC
Glycogen Storage Disease, Type 2	GAA	225281DM
Bardet-Biedl Syndrome, BBS2-Related	BBS2	225281AF
Mitochondrial Complex 1 Defic NDUFAF5	NDUFAF5	225281FU
Niemann-Pick Disease, Type C1/D	NPC1	225281GX
Megalencephalic Leukoencephalopathy	MLC1	225281FL
Joubert Syndrome 2	TMEM216	225281EL
Wolman Disease	LIPA	225281JH
Hereditary Fructose Intolerance	ALDOB	225281DV
Renal Tubular Acidosis and deafness	ATP6V1B1	225281IB
Mucopolysaccharidosis, Type IIIB	NAGLU	225281GE
Hereditary Spastic Paraparesis, Type 49	TECPR2	225281DW
Menkes Syndrome	APT7A	225281HB
Batten Disease	CLN3	225281AK
Mucolipidosis III gamma	GNPTG	225281FZ
Hemochromatosis, Type 3, TFR2-Related	TFR2	225281DU
Mucopolysaccharidosis, Type IIIA	SGSH	225281GD
Lysinuric Protein Intolerance	SLC7A7	225281FG
3-Methylcrotonyl-CoA Carboxylase 1 Defic	MCCC1	225281C
Ciliopathies, RPGRIP1L-Related	RPGRIP1L	225281BD
Limb-Girdle Muscular Dystrophy, Type 2B	DYSF	225281EX
Familial Hypercholesterolemia, LDLR	LDLR	225281CR
Carbamoyl Phosphate Synthetase I Def	CPS1	225281AQ
Usher Syndrome, Type 1C	USH1C	225281IZ
Glycogen Storage Disease, Type 5	PYGM	225281DP
Bardet-Biedl Syndrome, BBS1-Related	BBS1	225281AE
Familial Hyperinsulinism	ABCC8	225281CT
Footnotes	FOOTNTE	225043D
Report Note	REPORTNOTE	225043C
Congenital Disorder of Glycosylation 1B	MPI	225281BO
Retinitis Pigmentosa 28	FAM161A	225281IE
Nijmegen Breakage Syndrome	NBN	225281GZ
Mitochondrial Complex 1 Defic ACAD9	ACAD9	225281II
Asparagine Synthetase Deficiency	ASNS	225281Y
Glycine Encephalopathy, AMT-Related	AMT	225281DI
Carpenter Syndrome	RAB23	225281AU
Leber Congenital Amaurosis, Type LCA5	LCA5	225281ER
Aicardi-Goutières Syndrome	SAMHD1	225281N
Tay-Sachs Disease	HEXA	225281IW
Glutaric Acidemia, Type 2C	ETFDH	225281DG
Primary Ciliary Dyskinesia DNAH5-Related	DNAH5	225281HO
Niemann-Pick Disease, Types A/B	SMPD1	225281GW
Leber Congenital Amaurosis, Type RDH12	RDH12	225281ES
Muscle-Eye-Brain Disease, POMGNT1-Relate	POMGNT1	225281GL
Stuve-Wiedemann Syndrome	LIFR	225281IV
Cohen Syndrome	VPS13B	225281BG
Mucopolysaccharidosis, Type IIID	GNS	225281GG
Pontocerebellar Hypoplasia, RARS2-Relate	RARS2	225281HN
Acrodermatitis Enteropathica	SLC39A4	225281J
Medium Chain Acyl-CoA Dehydrogenase Def	ACADM	225281FK
Rhizomelic Chondrodysplasia Punctata 1	PEX7	225281IG
Fanconi Anemia, Group C	FANCC	225281CX
Cartilage-Hair Hypoplasia	RMRP	225281AV
Hypohidrotic Ectodermal Dysplasia X-link	EDA	225281EG
Primary Ciliary Dyskinesia DNAI1-Related	DNAI1	225281HP
Hemochromatosis, Type 2A	HFE2	225281DT
Usher Syndrome, Type 1B	MYO7A	225281IY
Neuronal Ceroid Lipofuscinosis, PPT1-Rel	PPT1	225281GU
Schimke Immunoosseous Dysplasia	SMARCAL1	225281IM
Aspartylglycosaminuria	AGA	225281Z
Mucopolysaccharidosis, Type II	IDS	225281GC
Inclusion Body Myopathy 2	GNE	225281EI
Holocarboxylase Synthetase Deficiency	HLCS	225281DZ
Aromatase Deficiency	CYP19A1	225281X
Homocystinuria due to Defic of MTHFR	MTHFR NAT	225281EB
Congenital Adrenal Hyperplasia, 17-Alpha	CYP17A1	225281BL
Infantile Cerebral and Cerebellar Atroph	MED17	225281EJ
Primary Hyperoxaluria, Type 3	HOGA1	225281HT
Bloom Syndrome	BLM	225281AO
Phenylketonuria	PAH	225281HI
Bilateral Frontoparietal Polymicrogyria	GPR56	225281AM
Cerebrotendinous Xanthomatosis	CYP27A1	225281AW
Homocystinuria, CBS-Related	CBS	225281EA
Very Long Chain Acyl-CoA Dehydrogenase	ACADVL	225281JE
Congenital Amegakaryocytic Thrombocytope	MPL	225281BM
Fragile X Syndrome	FMR1	225281CZ
Combined Malonic and Methylmalonic Acidu	ACSF3	225281BH
Gitelman Syndrome	SLC12A3	225281DE
Fanconi Anemia, Group A	FANCA	225281CW
Usher Syndrome, Type 1D	CDH23	225281JA
Metachromatic Leukodystrophy, PSAP	PSAP	225281FN
Retinitis Pigmentosa 59	DHDDS	225281IF
Lipoprotein Lipase Deficiency	LPL	225281FE
Biotinidase Deficiency	BTD	225281AN
Non-Syndromic Hearing Loss, GJB2-Related	GJB2	225281HA
Andermann Syndrome	SLC12A6	225281V
Odonto-onycho-dermal Dysplasia	WNT10A	225281HC
Zellweger Spectrum Disorders, PEX1-Relat	PEX1	225281JK
Autoimmune Polyglandular Syndrome	AIRE	225281HL
Tyrosinemia, Type I	FAH	225281IX
Glutaric Acidemia, Type 1	GCDH	225281DH
Niemann-Pick Disease, Type C2	NPC2	225281GY
Alpha-Thalassemia	HBA1/HBA2	225281P
Primary Hyperoxaluria, Type 2	GRHPR	225281HS
Pituitary Hormone Deficiency, Combined 3	LHX3	225281HJ
Glycogen Storage Disease, Type 1B	SLC37A4	225281DL
Methylmalonic Aciduria and Homocyst cbIC	MMACHC	225281FO
Hyperornithinemia-Hyperammonemia-Homocit	SLC25A15	225281EF
Cystinosis	CTNS	225281CC
Mucopolysaccharidosis, Type VI	ARSB	225281GI
Report Summary	REPORT SUM	225043A
Juvenile Retinoschisis, X-Linked	RS1	225281JI
Salla Disease	SLC17A5	225281IK
Carnitine Palmitoyltransferase II Def	CPT2	225281AT
Ataxia-Telangiectasia	ATM	225281AB
Congenital Disorder of Glycosylation 1C	ALG6	225281BP
N-acetylglutamate Synthase Deficiency	NAGS	225281GO
Emery-Dreifuss Muscular Dystrophy 1 X-li	EMD	225281CK
Leukoencephalopathy with Vanishing White	EIF2B5	225281EV
Zellweger Spectrum Disorders, PEX2-Relat	PEX2	225281JL
Familial Hypercholesterolemia, LDLRAP1	LDLRAP1	225281CS
Retinitis Pigmentosa 26	CERKL	225281ID
Bartter Syndrome	BSND	225281AJ
Bardet-Biedl Syndrome, BBS12-Related	BBS12	225281AH
Ataxia With Vitamin E Deficiency	TTPA	225281AA
Congenital Insensivity to Pain with Anhi	NTRK1	225281BR
Lipoid Adrenal Hyperplasia	STAR	225281FD
Hepatocerebral Mitochondrial DNA Depleti	MPV17	225281FW
Achromatopsia	CNGB3	225281I
CRB1-Related Retinal Dystrophies	CRB1	225281BZ
Enhanced S-Cone Syndrome	NR2E3	225281CL
3-Phosphoglycerate Dehydrogenase Deficie	PHGDH	225281E
Combined Pituitary Hormone Deficiency-2	PROP1	225281BK
Limb-Girdle Muscular Dystrophy, Type 2D	SGCA	225281EZ
Canavan Disease	ASPA	225281AP
Acute Infantile Liver Failure	TRMU	225281K
Propionic Acidemia, PCCB-Related	PCCB	225281HX
Homocystinuria, Type cblE	MTRR	225281EC
Hydrolethalus Syndrome	HYLS1	225281ED
Pontocerebellar Hypoplasia, Type 2D	SEPSECS	225281HU
Myotubular Myopathy, X-linked	MTM1	225281GN
Smith-Lemli-Opitz Syndrome	DHCR7	225281IR
3-Hydroxy-3-Methylglutaryl-CoA Lyase Def	HMGCL	225281B
Mitochondrial Complex 1 Defic NDUFS6	NDUFS6	225281FV
Autism Spectrum, Epilepsy and Arthrogryp	SLC35A3	225281AC
Mucopolysaccharidosis, Type IIIC	HGSNAT	225281GF
Carnitine Deficiency	SLC22A5	225281AR
Mitochondrial Myopathy and Sideroblastic	PUS1	225281FX
Galactosemia	GALT	225281DC
Sandhoff Disease	HEXB	225281IL
Usher Syndrome, Type 2A	USH2A	225281JC
Familial Mediterranean Fever	MEFV	225281CU
Congenital Hyperinsulinism	KCNJ11	225281EE
Leigh Syndrome, French-Canadian Type	LRPPRC	225281ET
Ornithine Aminotransferase Deficiency	OAT	225281HE
Chronic Granulomatous Disease, CYBA-Rel	CYBA	225281BB
Isovaleric Acidemia	IVD	225281EK
Mucopolysaccharidosis, Type IVB	GLB1	225281GH
3-Beta-Hydroxysteroid Dehydrogenase II	HSD3B2	225281A
Adrenoleukodystrophy	ABCD1	225281M
Ethylmalonic Encephalopathy	ETHE1	225281CM
Multiple Sulphatase Deficiency	SUMF1	225281GK
Cystic Fibrosis	CFTR	225281CB
Wilson Disease	ATP7B	225281JG
Duchenne/Becker Muscular Dystrophy	DMD	225281CF
Deafness, Autosomal Recessive 77	LOXHD1	225281CE
Lethal Congenital Contracture Syndrome 1	GLE1	225281EU
Bardet-Biedl Syndrome, BBS10-Related	BBS10	225281AG
Alstrom Syndrome	ALMS1	225281U
Bare Lymphocyte Syndrome, CIITA	CIITA	225281AI
Limb-Girdle Muscular Dystrophy, Type 2E	SGCB	225281FA
Creatine Transporter Defect	SLC6A8	225281CA
Krabbe Disease	GALC	225281EN
Choroideremia	CHM	225281BA
Maple Syrup Urine Disease, Type 1A	BCKDHA	225281FH
Acyl-CoA Oxidase I Deficiency	ACOX1	225281L
Argininosuccinate Lyase Deficiency	ASL	225281W
Long Chain 3-Hydroxyacyl-CoA Dehydrogena	HADHA	225281FF
Omenn Syndrome	RAG2	225281HD
Hermansky-Pudlak Syndrome, HPS1-Related	HPS1	225281DX
Glycogen Storage Disease, Type 4	GBE1	225281DO
Ellis-van Creveld Syndome	EVC NAT	225281CJ
6-Pyruvoyl-Tetrahydropterin Synthase	PTS	225281F
Methylmalonic Aciduria, MMAB-Related	MMAB	225281FR
Beta-Hemoglobinopathies	HBB	225281AL
Carnitine Palmitoyltransferase IA Def	CPT1A	225281AS
Guanidinoacetate Methyltransferase Defic	GAMT	225281DS
Osteopetrosis, Infantile Malignant	TCIRG1	225281HG
Charcot-Marie-Tooth Disease with Deafnes	GJB1	225281AX
Congenital Disorder of Glycosylation 1A	PMM2	225281BN
Choreoacanthocytosis	VPS13A	225281AZ
Primary Hyperoxaluria, Type 1	AGXT	225281HR
Gaucher Disease	GBA	225281DD
Ehlers-Danlos Syndrome, Type VIIC	ADAMTS2	225281CI
Costeff Syndrome	OPA3	225281BY
Charcot-Marie-Tooth Disease, Type 4D	NDRG1	225281AY
Congenital Finnish Nephrosis	NPHS1	225281BQ
Mucolipidosis, Type IV	MCOLN1	225281GA
Methylmalonic Aciduria and Homocyst cbID	MMADHC	225281FP
Neuronal Ceroid Lipofuscinosis, CLN5	CLN5	225281GQ
Limb-Girdle Muscular Dystrophy, Type 2I	FKRP	225281FB
Metachromatic Leukodystrophy, ARSA	ARSA	225281FM
Segawa Syndrome, TH-Related	TH	225281IN
Glycogen Storage Disease, Type 3	AGL	225281DN
Pycnodysostosis	CTSK	225281HY
Microphthalmia/Anophthalmia	VSX2	225281FT
Panel Notes	PANEL NOTES	225043B
Pyruvate Dehydrogenase Deficiency X-Link	PDHA1	225281IA
Mucopolysaccharidosis, Type I	IDUA	225281GB
Citrullinemia, Type 1	ASS1	225281BF
Neuronal Ceroid Lipofuscinosis, CLN6	CLN6	225281GR
Pyruvate Dehydrogenase Deficiency Autoso	PDHB	225281HZ
Retinitis Pigmentosa 25	EYS	225281IC
Usher Syndrome, Type 3	CLRN1	225281JD
Pendred Syndrome	SLC26A4	225281HH
Glycogen Storage Disease, Type 7	PFKM	225281DQ
Myoneurogastrointestinal Encephalopathy	TYMP1	225281GM
Factor IX Deficiency	F9	225281CO
Progressive Familial Intrahepatic Choles	ABCB11	225281HV
Beta-Ketothiolase Deficiency	ACAT1	225281EM
Leber Congenital Amaurosis 2	RPE65	225281EP
GRACILE Syndrome	BCS1L	225281DR
Combined Oxidative Phosphorylation Def 3	TSFM	225281BI
Methylmalonic Aciduria, MMAA-Related	MMAA	225281FQ
Neuronal Ceroid Lipofuscinosis, TPP1-Rel	TPP1	225281GV
Alpha Thalassemia Intellectual Dis Syndr	ATRX	225281Q
Galactokinase Deficiency	GALK1	225281DB
Autosomal Recessive Spastic Ataxia of Ch	SACS	225281AD
Corneal Dystrophy and Perceptive Deafnes	SLC4A11	225281BW
Propionic Acidemia, PCCA-Related	PCCA	225281HW
Dystrophic Epidermolysis Bullosa	COL7A1	225281CH
Maple Syrup Urine Disease, Type 1B	BCKDHB	225281FI
Alpha-Mannosidosis	MAN2B1	225281O
Zellweger Spectrum Disorders, PEX6-Relat	PEX6	225281JM
3-Methylcrotonyl-CoA Carboxylase 2 Defic	MCCC2	225281D
Polycystic Kidney Disease, Autosomal Rec	PKHD1	225281HK
Severe Combined Immunodeficiency, X-link	IL2RG	225281JJ
Factor XI Deficiency	F11	225281CP
Rhizomelic Chondrodysplasia Punctata 3	AGPS	225281IH
Usher Syndrome, Type 1F	PCDH15	225281JB
Steroid-Resistant Nephrotic Syndrome	NPHS2	225281IU
D-Bifunctional Protein Deficiency	HSD17B4	225281CD
Glycogen Storage Disease, Type 1A	G6PC	225281DK
Familial Dysautonomia	IKBKAP	225281CQ
Chronic Granulomatous Disease, X-linked	CYBB	225281BC
Ornithine Transcarbamylase Deficiency	OTC	225281HF
Hermansky-Pudlak Syndrome, HPS3-Related	HPS3	225281DY
PDF Report	PDF NAT	225043E
Sjogren-Larsson Syndrome	ALDH3A2	225281IQ
Congenital Neutropenia, VPS45-Related	VPS45	225281BV
Pontocerebellar Hypoplasia, Type 1A	VRK1	225281HM
Mucolipidosis II/IIIA	GNPTAB	225281FY
Congenital Neutropenia, HAX1-Related	HAX1	225281BU
Congenital Myasthenic Syndrome, CHRNE	CHRNE	225281BS
Primary Ciliary Dyskinesia DNAI2-Related	DNAI2	225281HQ
Combined Oxidative Phosphorylation Def 1	GFM1	225281BJ
Alport Syndrome, X-linked	COL4A5	225281T
Abetalipoproteinemia	MTTP	225281G
Alport Syndrome, COL4A3-Related	COL4A3	225281R
Roberts Syndrome	ESCO2	225281IJ
Neuronal Ceroid Lipofuscinosis, MFSD8	MFSD8	225281GT

Actual Epic Build 3/11/2025

PROCEDURE ID

172953

PDM

225281

ORDER DISPLAY NAME

Horizon 274 Carrier Screen (Pan-Ethnic Panel)

PROCEDURE NAME

HORIZON 274 (PAN-ETHNIC EXTENDED)

PROCEDURE MASTER NUMBER

LAB10144

SHORT PROCEDURE NAME

HORIZON 274 (PAN-ETHNIC EXTENDED)

CATEGORY CODE

21.0

CATEGORY CODE RECORD NAME

LAB MOLECULAR DIAGNOSTICS ORDERABLES

SYNONYMS

HCS
WOMEN'S HEALTH
CARRIER SCREENING
NATERA

CLINICALLY ACTIVE

Yes

ORDERABLE

Yes

PERFORMABLE

Yes

FILTER GENOMICS

Generic Genomics Procedure

REFERENCE LINK URL

https://labs.northwell.edu/epic/test/172953

ORDERING INSTRUCTIONS

DEFAULT SPECIMEN TYPE

Blood

SPECIMEN TYPE PICK LIST

Blood

SPECIMEN TYPE LIST

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

REPRTSUM
PANELNOTE
REPORTNOTE
FOOTNOTES
PDF
3BETAHYDDEH
3HYDRO3METH
3METHCOACAR1
3METHCOACAR2
3PHOSPHODD
6PYRUTETASY
ABETALIPO
ACHONDROG1B
ACHROMATOP
ACRODERMENTE
ACINFLIVFAIL
ACYLCOAOX
ADRENOLEUK
AICGOUTSYN
AMANNOSID
ATHALASS
ATHALASSINTD
ALPORTSY
ALSTROM
ANDERMANN
ARGININOSULD
AROMADEF
ASPARAGINESD
ASPARTYLGLYO
ATAXIAVITE
ATAXIATELAN
AUTISMSPEC
AUTOPOLYSYN
AUTORSAC
BBS1
BBS10
BBS12
BBS2
BARELYMPH
BARTTER
BATTEN
BHEMOGLOB
BKETODEF
BILATFRONT
BIOTINIDASE
HORBLOOMSYN
CRB1RERETDY
CANAVAN
CPSDEF
CARNITINEDEF
CPTDEF
CARPENTERSYN
CARTHYPO
CERBROTEND
CHARCOTMARIE
CHOREOACAN
CHOROIDEREM
CGD
CILLOPATH
CITRINDEF
CITRULLINEMI
COHENSYN
CMMA
COMBOXIPHD1
COMBOXIPHD3
COMBPITHOD2
CONGADNHY17A
CONGAMETRHO
CONDOGLYC1A
CONDOGLYC1B
CONDOGLYC1C
CONGFINNISH
CONHYPINS
CONGINSPWA
CONGMYASNCH
CONMYASYNRA
CONGNEUHAX
CONGNEUTRVP
CORNDYSPERDF
CORTMETHDEF
COSTEFFSYN
CREATTRANDE
CYSTICFIB
CYSTINOSIS
DBIFUNCPROT
DEAFAUTORE77
DUCHBECKMD
DYSKERCONG
DYSTEPICBU
EHLDANSYNT93
ELLISVANCSYN
EMERYDMD
ENHASCONSY
ETHYLMALENC
FABRY
FACTORIXDEF
FACTORXI
FAMDYSA
HYPCHFALDLR
HYPCHFALDLRA
FAMHYPER
FAMMED
NEURDIAINFAM
FANCONIANGRA
FANCONIANGRC
FANCONIANGRG
FRAGILEX
FUMARASEDEF
GRACILE
GALACTODEF
GALACTOSEMIA
GAUCHER
NTRAGITELSYN
NTRAGLUCOADE
NTRAGLUTYP2A
NTRAGLUTYP2C
GLYENCEAMTRE
GLYENCGLDCRE
GLYCSD1A
GLYCSD1B
NTRAGSDT2
NTRAGSDT3
NTRAGSDT4
NTRAGSDT5
NTRAGSDT7
NTRAGUANIDIN
NTRAHEMT2A
NTRAHEMT3
NTRAMITOCHON
HEREDFRUC
NTRAHSPT49
NTRAHERMANSK
NTRAHERPUD
HSD
HOMOCYSURD
HOMOCBSRE
NTRAHOMOCYS
HYDROSYN
HHHSYNDR
HYPOHIDR
HYPOPHOSALPL
IBM2
CEREBRAL
ISOVALERIC
JOUBERTSY2
RETINOSCH
KRABBE
LAMELLAR
LEBER
LECEP290
LELCA5
LERDH12
LEIGHSYN
LCCS
LEUKOENCEPH
MUSCDYST2A
MUSCDYST2B
MUSCDYST2C
MUSCDYST2D
MUSCDYST2E
MUSCDYST2I
LDD
LIPADRHYPER
LIPOPROT
LONGCHAIN3
LYSINURIC
MAPLEUR
MECGRUB
ACYLCOA
MEGLEUKENCE
MENKES
METALEUKO
MEACHOCBLC
METHYLACID
MICROPHANO
MITOCHCOM
MITOCHONCOM
MITOMYOSID
MUCOLIPID
MUCOLIPGAM
MUCOPOLYSAC
MULTSUPHDEF
MUSEYEDIS
MYPGASINTENC
MYOTUBMYO
NACETGLUTSYN
NEMALINEMYO
NEURONCERLIP
NIEMPICKC1D
NIEMPICKC2
NIEMPICKAB
NIJMEGEN
NONSYNDRHL
ONONDERDYS
OMENSYN
ORNITHAMDEF
OTD
OSTPETROSIS
PENDREDSYN
PHENYLKE
PITUITARY
POLYCYSKID
PONRARS2
PONTYPE1A
PONTYPE2D
PCDDNAH5
PCDDNAI1
PCDDNAI2
PRHYTY1
PRHYTY2
PRHYTY3
PROFAMINTRA
PCCAREPROACI
PCCBPROACI
PYCNODY
PYDEHDEFA
PYDEHDEFX
RENTUAC
RETPIG25
RETPIG26
RETPIG28
RETPIG59
RHCHPUTY1
RHCHPUTY3
ROBSYN
SALLADIS
SANDHOFF
SCHIMMDYSP
SEGSYND
SEVIMMAD
SEVIMMTYA
SEVIMMXL
SJOG
SLOS
SMA
SPONDDYS
SRNS
STUVEWIE
TAYSACHSDIS
TYROTY1
USHT1B
USHT1C
USHT1D
USHT1F
USHT2A
USHT3
VERYLONG
WWSYND
WILSONDIS
WOLDIS
ZELLWEGE

OP LAB TEST COMPONENTS FOR REPORT

ORDER QUESTIONS

["3045300105", "3048500036", "3045300061", "3045300062"]

ORDER QUESTIONS RECORD NAME

NH IP CONSENT ORDER COMMENT
NH IP ETHNICITY CUSTOM LIST
NH IP PAN ETHNIC ACKNOWLEDGEMENT
NH IP PATIENT PREGNANT

INPATIENT ORDER QUESTIONS

["3045300105", "3048500036", "3045300061", "3045300062"]

INPATIENT ORDER QUESTIONS RECORD NAME

NH IP CONSENT ORDER COMMENT
NH IP ETHNICITY CUSTOM LIST
NH IP PAN ETHNIC ACKNOWLEDGEMENT
NH IP PATIENT PREGNANT

ORDER SPECIFIC QUESTION OVERRIDE

Yes

INPATIENT QUESTION OVERRIDE

Yes

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	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
3048500036	NH IP ETHNICITY CUSTOM LIST

EPIC IP AOEs

Question ID	Question Name	Question	Response Type	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
3048500036	NH IP ETHNICITY CUSTOM LIST

EPIC Components (results - crosswalked through Cerner)

Component ID	Component Name	Base Name	Common Name	External Name	Cerner Result PDM
3047803286.0	LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2A	MUSCDYST2A	LIMB GIRDLE MUSCULAR DYSTROPHY, TYPE 2A		225281EW
3047800963.0	ALPORT SYNDROME, COL4A4-RELATED	ALPORTSY	ALPORT SYNDROME, COL4A4 RELATED		225281S
3047803417.0	MECKEL-GRUBER SYNDROME, TYPE 1	MECGRUB	MECKEL GRUBER SYNDROME, TYPE 1		225281FJ
3047801808.0	CITRIN DEFICIENCY	CITRINDEF	CITRIN DEFICIENCY		225281BE
3047805657.0	HORIZON 274 CARRIER SCREEN SPINAL MUSCULAR ATROPHY	SMA	SMA, ATROPHY		225281IS
3047803507.0	METHYLMALONIC ACIDURIA, TYPE MUT(0)	METHYLACID	METHYLMALONIC ACIDURIA, TYPE MUT 0		225281FS
3047804716.0	SEVERE COMBINED IMMUNODEFICIENCY, TYPE A	SEVIMMTYA	SEVERE COMBINED IMMUNODEFICIENCY, TYPE A		225281IP
3047801976.0	CONGENITAL MYASTHENIC SYNDROME, RAPSN-RE	CONMYASYNRA	CONGENITAL MYASTHENIC SYNDROME, RAPSN RE		225281BT
3047805328.0	ZELLWEGER SPECTRUM DISORDERS, PEX10-RELA	ZELLWEGE	ZELLWEGER SPECTRUM DISORDERS, PEX10 RELA		225281JN
3047805689.0	WALKER-WARBURG SYNDROME	WWSYND	WWSYND, SYNDROME		225281JF
3047805474.0	FABRY DISEASE	FABRY	FABRY DISEASE		225281CN
3047800846.0	ACHONDROGENESIS, TYPE 1B	ACHONDROG1B	ACHONDROGENESIS, TYPE 1B		225281H
3047801993.0	CORTICOSTERONE METHYLOXIDASE DEFICIENCY	CORTMETHDEF	CORTICOSTERONE METHYLOXIDASE DEFICIENCY		225281BX
3047803212.0	LAMELLAR ICHTHYOSIS, TYPE 1	LAMELLAR	LAMELLAR ICHTHYOSIS, TYPE 1		225281EO
3047802247.0	DYSKERATOSIS CONGENITA	DYSKERCONG	DYSKERATOSIS CONGENITA		225281CG
3047802414.0	FAMILIAL NEUROPOPHYSEAL DIABETES INSIPID	NEURDIAINFAM	FAMILIAL NEUROPOPHYSEAL DIABETES INSIPID		225281CV
3047802630.0	GLYCINE ENCEPHALOPATHY, GLDC-REL	GLYENCGLDCRE	GLYCINE ENCEPHALOPATHY, GLDC REL		225281DJ
3047803247.0	LEBER CONGENITAL AMAUROSIS, TYPE CEP290	LECEP290	LEBER CONGENITAL AMAUROSIS, TYPE CEP290		225281EQ
3047802622.0	GLUTARIC ACIDEMIA, TYPE 2A	NTRAGLUTYP2A	GLUTARIC ACIDEMIA, TYPE 2A		225281DF
3047803643.0	MUCOPOLYSACCHARIDOSIS, TYPE IX	MUCOPOLYSAC	MUCOPOLYSACCHARIDOSIS, TYPE IX		225281GJ
3047803288.0	LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2C	MUSCDYST2C	LIMB GIRDLE MUSCULAR DYSTROPHY, TYPE 2C		225281EY
3047805581.0	NEMALINE MYOPATHY	NEMALINEMYO	NEMALINEMYO, MYOPATHY		225281GP
3047802984.0	HYPOPHOSPHATASIA, ALPL-RELATED	HYPOPHOSALPL	HYPOPHOSPHATASIA, ALPL RELATED		225281EH
3047802527.0	FUMARASE DEFICIENCY	FUMARASEDEF	FUMARASE DEFICIENCY		225281DA
3047803731.0	NEURONAL CEROID LIPOFUSCINOSIS, CLN8	NEURONCERLIP	NEURONAL CEROID LIPOFUSCINOSIS, CLN8		225281GS
3047804715.0	SEVERE COMBINED IMMUNODEFICIENCY ADA-REL	SEVIMMAD	SEVERE COMBINED IMMUNODEFICIENCY ADA REL		225281IO
3047802420.0	FANCONI ANEMIA, GROUP G	FANCONIANGRG	FANCONI ANEMIA, GROUP G		225281CY
3047805659.0	SPONDYLOTHORACIC DYSOSTOSIS	SPONDDYS	SPONDDYS, DYSOSTOSIS		225281IT
3047805550.0	LIPOAMIDE DEHYDROGENASE DEFICIENCY	LDD	LIPOAMIDE DEHYDROGENASE DEFICIENCY		225281FC
3047802637.0	GLYCOGEN STORAGE DISEASE, TYPE 2	NTRAGSDT2	GLYCOGEN STORAGE DISEASE, TYPE 2		225281DM
3047805399.0	BARDET-BIEDL SYNDROME, BBS2-RELATED	BBS2	BARDET BIEDL SYNDROME, BBS2 RELATED		225281AF
3047803535.0	MITOCHONDRIAL COMPLEX 1 DEFIC NDUFAF5	MITOCHONCOM	MITOCHONDRIAL COMPLEX 1 DEFIC NDUFAF5		225281FU
3047803745.0	NIEMANN-PICK DISEASE, TYPE C1/D	NIEMPICKC1D	NIEMANN PICK DISEASE, TYPE C1 D	Niemann-Pick Disease, Type C1/D	225281GX
3047803421.0	MEGALENCEPHALIC LEUKOENCEPHALOPATHY	MEGLEUKENCE	MEGALENCEPHALIC LEUKOENCEPHALOPATHY		225281FL
3047805543.0	JOUBERT SYNDROME 2	JOUBERTSY2	JOUBERT SYNDROME 2		225281EL
3047805290.0	WOLMAN DISEASE	WOLDIS	WOLMAN DISEASE		225281JH
3047805513.0	HEREDITARY FRUCTOSE INTOLERANCE	HEREDFRUC	HEREDITARY FRUCTOSE INTOLERANCE		225281DV
3047804530.0	RENAL TUBULAR ACIDOSIS AND DEAFNESS	RENTUAC	RENAL TUBULAR ACIDOSIS AND DEAFNESS		225281IB
3047803639.0	MUCOPOLYSACCHARIDOSIS, TYPE IIIB	MUCOPOLYSAC	MUCOPOLYSACCHARIDOSIS, TYPE IIIB		225281GE
3047802774.0	HEREDITARY SPASTIC PARAPARESIS, TYPE 49	NTRAHSPT49	HEREDITARY SPASTIC PARAPARESIS, TYPE 49		225281DW
3047803427.0	MENKES SYNDROME	MENKES	MENKES SYNDROME		225281HB
3047801318.0	BATTEN DISEASE	BATTEN	BATTEN DISEASE		225281AK
3047805576.0	MUCOLIPIDOSIS III GAMMA	MUCOLIPGAM	MUCOLIPGAM, GAMMA		225281FZ
3047802741.0	HEMOCHROMATOSIS, TYPE 3, TFR2-RELATED	NTRAHEMT3	HEMOCHROMATOSIS, TYPE 3, TFR2 RELATED		225281DU
3047803638.0	MUCOPOLYSACCHARIDOSIS, TYPE IIIA	MUCOPOLYSAC	MUCOPOLYSACCHARIDOSIS, TYPE IIIA		225281GD
3047803362.0	LYSINURIC PROTEIN INTOLERANCE	LYSINURIC	LYSINURIC PROTEIN INTOLERANCE		225281FG
3047800784.0	3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFIC	3METHCOACAR1	3 METHYLCROTONYL COA CARBOXYLASE 1 DEFICIENCY		225281C
3047801800.0	CILIOPATHIES, RPGRIP1L-RELATED	CILLOPATH	CILIOPATHIES, RPGRIP1L RELATED		225281BD
3047803287.0	LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2B	MUSCDYST2B	LIMB GIRDLE MUSCULAR DYSTROPHY, TYPE 2B		225281EX
3047802411.0	FAMILIAL HYPERCHOLESTEROLEMIA, LDLR	HYPCHFALDLR	FAMILIAL HYPERCHOLESTEROLEMIA, LDLR		225281CR
3047801623.0	CARBAMOYL PHOSPHATE SYNTHETASE I DEF	CPSDEF	CARBAMOYL PHOSPHATE SYNTHETASE I DEF		225281AQ
3047805187.0	USHER SYNDROME, TYPE 1C	USHT1C	USHER SYNDROME, TYPE 1C		225281IZ
3047802640.0	GLYCOGEN STORAGE DISEASE, TYPE 5	NTRAGSDT5	GLYCOGEN STORAGE DISEASE, TYPE 5		225281DP
3047805397.0	BARDET-BIEDL SYNDROME, BBS1-RELATED	BBS1	BARDET BIEDL SYNDROME, BBS1 RELATED		225281AE
3047805481.0	HORIZON 274 CARRIER SCREEN FAMILIAL HYPERINSULINISM	FAMHYPER	HORIZON 274 CARRIER SCREEN FAMILIAL HYPERINSULINISM		225281CT
3047805495.0	NATERA FOOTNOTES	FOOTNOTES	NATERA FOOTNOTES		225043D
3047805629.0	REPORT NOTES	REPORTNOTE	REPORTNOTE, NOTES		225043C
3047801968.0	CONGENITAL DISORDER OF GLYCOSYLATION 1B	CONDOGLYC1B	CONGENITAL DISORDER OF GLYCOSYLATION 1B		225281BO
3047804558.0	RETINITIS PIGMENTOSA 28	RETPIG28	RETINITIS PIGMENTOSA 28		225281IE
3047805584.0	NIJMEGEN BREAKAGE SYNDROME	NIJMEGEN	NIJMEGEN, SYNDROME		225281GZ
3047803534.0	MITOCHONDRIAL COMPLEX 1 DEFIC ACAD9	MITOCHCOM	MITOCHONDRIAL COMPLEX 1 DEFIC ACAD9		225281II
3047801196.0	ASPARAGINE SYNTHETASE DEFICIENCY	ASPARAGINESD	ASPARAGINE SYNTHETASE DEFICIENCY		225281Y
3047802629.0	GLYCINE ENCEPHALOPATHY, AMT-RELATED	GLYENCEAMTRE	GLYCINE ENCEPHALOPATHY, AMT RELATED		225281DI
3047801651.0	CARPENTER SYNDROME	CARPENTERSYN	CARPENTER SYNDROME		225281AU
3047803248.0	LEBER CONGENITAL AMAUROSIS, TYPE LCA5	LELCA5	LEBER CONGENITAL AMAUROSIS, TYPE LCA5		225281ER
3047800900.0	AICARDI-GOUTIÈRES SYNDROME	AICGOUTSYN	NTRA AICARDI GOUTIÈRES SYNDROME		225281N
3047804913.0	TAY-SACHS DISEASE	TAYSACHSDIS	TAY SACHS DISEASE		225281IW
3047802623.0	GLUTARIC ACIDEMIA, TYPE 2C	NTRAGLUTYP2C	GLUTARIC ACIDEMIA, TYPE 2C		225281DG
3047804250.0	PRIMARY CILIARY DYSKINESIA DNAH5-RELATED	PCDDNAH5	PRIMARY CILIARY DYSKINESIA, DNAH5 RELATED	Primary Ciliary Dyskinesia, DNAH5-Related	225281HO
3047803747.0	NIEMANN-PICK DISEASE, TYPES A/B	NIEMPICKAB	NIEMANN PICK DISEASE, TYPES A B	Niemann-Pick Disease, Types A/B	225281GW
3047803249.0	LEBER CONGENITAL AMAUROSIS, TYPE RDH12	LERDH12	LEBER CONGENITAL AMAUROSIS, TYPE RDH12		225281ES
3047803656.0	MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATE	MUSEYEDIS	MUSCLE EYE BRAIN DISEASE, POMGNT1 RELATE		225281GL
3047804868.0	STUVE-WIEDEMANN SYNDROME	STUVEWIE	STUVE WIEDEMANN SYNDROME		225281IV
3047805432.0	COHEN SYNDROME	COHENSYN	COHEN SYNDROME		225281BG
3047803641.0	MUCOPOLYSACCHARIDOSIS, TYPE IIID	MUCOPOLYSAC	MUCOPOLYSACCHARIDOSIS, TYPE IIID		225281GG
3047804212.0	PONTOCEREBELLAR HYPOPLASIA, RARS2-RELATE	PONRARS2	PONTOCEREBELLAR HYPOPLASIA, RARS2 RELATE		225281HN
3047800849.0	ACRODERMATITIS ENTEROPATHICA	ACRODERMENTE	ACRODERMATITIS ENTEROPATHICA		225281J
3047803418.0	MEDIUM CHAIN ACYL-COA DEHYDROGENASE DEF	ACYLCOA	MEDIUM CHAIN ACYL COA DEHYDROGENASE DEF		225281FK
3047804565.0	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA 1	RHCHPUTY1	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA 1		225281IG
3047802419.0	FANCONI ANEMIA, GROUP C	FANCONIANGRC	FANCONI ANEMIA, GROUP C		225281CX
3047805418.0	CARTILAGE-HAIR HYPOPLASIA	CARTHYPO	CARTILAGE HAIR HYPOPLASIA		225281AV
3047802983.0	HYPOHIDROTIC ECTODERMAL DYSPLASIA X-LINK	HYPOHIDR	HYPOHIDROTIC ECTODERMAL DYSPLASIA X LINK		225281EG
3047804251.0	PRIMARY CILIARY DYSKINESIA DNAI1-RELATED	PCDDNAI1	PRIMARY CILIARY DYSKINESIA, DNAI1 RELATED	Primary Ciliary Dyskinesia, DNAI1-Related	225281HP
3047802740.0	HEMOCHROMATOSIS, TYPE 2A	NTRAHEMT2A	HEMOCHROMATOSIS, TYPE 2A		225281DT
3047805186.0	USHER SYNDROME, TYPE 1B	USHT1B	USHER SYNDROME, TYPE 1B		225281IY
3047803733.0	NEURONAL CEROID LIPOFUSCINOSIS, PPT1-REL	NEURONCERLIP	NEURONAL CEROID LIPOFUSCINOSIS, PPT1 REL		225281GU
3047804667.0	SCHIMKE IMMUNOOSSEOUS DYSPLASIA	SCHIMMDYSP	SCHIMKE IMMUNOOSSEOUS DYSPLASIA		225281IM
3047805387.0	ASPARTYLGLYCOSAMINURIA	ASPARTYLGLYO	ASPARTYLGLYCOSAMINURIA		225281Z
3047803637.0	MUCOPOLYSACCHARIDOSIS, TYPE II	MUCOPOLYSAC	MUCOPOLYSACCHARIDOSIS, TYPE II		225281GC
3047805526.0	INCLUSION BODY MYOPATHY 2	IBM2	INCLUSION BODY MYOPATHY 2		225281EI
3047805518.0	HOLOCARBOXYLASE SYNTHETASE DEFICIENCY	HSD	HOLOCARBOXYLASE SYNTHETASE DEFICIENCY		225281DZ
3047801177.0	AROMATASE DEFICIENCY	AROMADEF	AROMATASE DEFICIENCY		225281X
3047802897.0	HOMOCYSTINURIA DUE TO DEFIC OF MTHFR	HOMOCYSURD	HOMOCYSTINURIA DUE TO DEFIC OF MTHFR		225281EB
3047801965.0	CONGENITAL ADRENAL HYPERPLASIA, 17-ALPHA	CONGADNHY17A	CONGENITAL ADRENAL HYPERPLASIA, 17 ALPHA		225281BL
3047803051.0	INFANTILE CEREBRAL AND CEREBELLAR ATROPH	CEREBRAL	INFANTILE CEREBRAL AND CEREBELLAR ATROPH		225281EJ
3047804258.0	PRIMARY HYPEROXALURIA, TYPE 3	PRHYTY3	PRIMARY HYPEROXALURIA, TYPE 3		225281HT
3047805407.0	HORIZON 274 CARRIER SCREEN BLOOM SYNDROME	HORBLOOMSYN	HORIZON 274 CARRIER SCREEN BLOOM SYNDROME		225281AO
3047804077.0	PHENYLKETONURIA	PHENYLKE	PHENYLKETONURIA		225281HI
3047801382.0	BILATERAL FRONTOPARIETAL POLYMICROGYRIA	BILATFRONT	BILATERAL FRONTOPARIETAL POLYMICROGYRIA		225281AM
3047805420.0	CEREBROTENDINOUS XANTHOMATOSIS	CERBROTEND	CEREBROTENDINOUS XANTHOMATOSIS		225281AW
3047802898.0	HOMOCYSTINURIA, CBS-RELATED	HOMOCBSRE	HOMOCYSTINURIA, CBS RELATED		225281EA
3047805225.0	VERY LONG CHAIN ACYL-COA DEHYDROGENASE	VERYLONG	VERY LONG CHAIN ACYL COA DEHYDROGENASE		225281JE
3047801966.0	CONGENITAL AMEGAKARYOCYTIC THROMBOCYTOPE	CONGAMETRHO	CONGENITAL AMEGAKARYOCYTIC THROMBOCYTOPE		225281BM
3047805497.0	FRAGILE X SYNDROME	FRAGILEX	FRAGILE X SYNDROME		225281CZ
3047801931.0	COMBINED MALONIC AND METHYLMALONIC ACIDU	CMMA	COMBINED MALONIC AND METHYLMALONIC ACIDU		225281BH
3047802590.0	GITELMAN SYNDROME	NTRAGITELSYN	GITELMAN SYNDROME		225281DE
3047802418.0	FANCONI ANEMIA, GROUP A	FANCONIANGRA	FANCONI ANEMIA, GROUP A		225281CW
3047805188.0	USHER SYNDROME, TYPE 1D	USHT1D	USHER SYNDROME, TYPE 1D		225281JA
3047803446.0	METACHROMATIC LEUKODYSTROPHY, PSAP	METALEUKO	METACHROMATIC LEUKODYSTROPHY, PSAP		225281FN
3047804559.0	RETINITIS PIGMENTOSA 59	RETPIG59	RETINITIS PIGMENTOSA 59		225281IF
3047803305.0	LIPOPROTEIN LIPASE DEFICIENCY	LIPOPROT	LIPOPROTEIN LIPASE DEFICIENCY		225281FE
3047805404.0	BIOTINIDASE DEFICIENCY	BIOTINIDASE	BIOTINIDASE DEFICIENCY		225281AN
3047803765.0	NON-SYNDROMIC HEARING LOSS, GJB2-RELATED	NONSYNDRHL	NON SYNDROMIC HEARING LOSS, GJB2 RELATED		225281HA
3047805383.0	ANDERMANN SYNDROME	ANDERMANN	ANDERMANN SYNDROME		225281V
3047803848.0	ODONTO-ONYCHO-DERMAL DYSPLASIA	ONONDERDYS	ODONTO ONYCHO DERMAL DYSPLASIA		225281HC
3047805329.0	ZELLWEGER SPECTRUM DISORDERS, PEX1-RELAT	ZELLWEGE	ZELLWEGER SPECTRUM DISORDERS, PEX1 RELAT		225281JK
3047801220.0	AUTOIMMUNE POLYGLANDULAR SYNDROME	AUTOPOLYSYN	AUTOIMMUNE POLYGLANDULAR SYNDROME		225281HL
3047805148.0	TYROSINEMIA, TYPE I	TYROTY1	TYROSINEMIA, TYPE I		225281IX
3047802621.0	GLUTARIC ACIDEMIA, TYPE 1	NTRAGLUCOADE	GLUTARIC ACIDEMIA, TYPE 1		225281DH
3047803746.0	NIEMANN-PICK DISEASE, TYPE C2	NIEMPICKC2	NIEMANN PICK DISEASE, TYPE C2	Niemann-Pick Disease, Type C2	225281GY
3047800961.0	ALPHA-THALASSEMIA	ATHALASS	ALPHA THALASSEMIA		225281P
3047804257.0	PRIMARY HYPEROXALURIA, TYPE 2	PRHYTY2	PRIMARY HYPEROXALURIA, TYPE 2		225281HS
3047804099.0	PITUITARY HORMONE DEFICIENCY, COMBINED 3	PITUITARY	PITUITARY HORMONE DEFICIENCY, COMBINED 3		225281HJ
3047802636.0	GLYCOGEN STORAGE DISEASE, TYPE 1B	GLYCSD1B	GLYCOGEN STORAGE DISEASE, TYPE 1B		225281DL
3047803502.0	METHYLMALONIC ACIDURIA AND HOMOCYST CBIC	MEACHOCBLC	MEACHOCBLC		225281FO
3047802978.0	HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCIT	HHHSYNDR	HYPERORNITHINEMIA HYPERAMMONEMIA HOMOCIT		225281EF
3047805457.0	CYSTINOSIS	CYSTINOSIS	CYSTINOSIS		225281CC
3047803644.0	MUCOPOLYSACCHARIDOSIS, TYPE VI	MUCOPOLYSAC	MUCOPOLYSACCHARIDOSIS, TYPE VI		225281GI
3047804538.0	REPORT SUMMARY	REPRTSUM	REPORT SUMMARY		225043A
3047803163.0	JUVENILE RETINOSCHISIS, X-LINKED	RETINOSCH	JUVENILE RETINOSCHISIS, X LINKED		225281JI
3047805643.0	SALLA DISEASE	SALLADIS	SALLADIS, DISEASE		225281IK
3047801645.0	CARNITINE PALMITOYLTRANSFERASE II DEF	CPTDEF	CARNITINE PALMITOYLTRANSFERASE II DEF		225281AT
3047805391.0	ATAXIA-TELANGIECTASIA	ATAXIATELAN	ATAXIA TELANGIECTASIA		225281AB
3047801969.0	CONGENITAL DISORDER OF GLYCOSYLATION 1C	CONDOGLYC1C	CONGENITAL DISORDER OF GLYCOSYLATION 1C		225281BP
3047803696.0	N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY	NACETGLUTSYN	N ACETYLGLUTAMATE SYNTHASE DEFICIENCY		225281GO
3047802300.0	EMERY-DREIFUSS MUSCULAR DYSTROPHY 1 X-LI	EMERYDMD	EMERY DREIFUSS MUSCULAR DYSTROPHY 1 X LI		225281CK
3047803271.0	LEUKOENCEPHALOPATHY WITH VANISHING WHITE	LEUKOENCEPH	LEUKOENCEPHALOPATHY WITH VANISHING WHITE		225281EV
3047805330.0	ZELLWEGER SPECTRUM DISORDERS, PEX2-RELAT	ZELLWEGE	ZELLWEGER SPECTRUM DISORDERS, PEX2 RELAT		225281JL
3047802412.0	FAMILIAL HYPERCHOLESTEROLEMIA, LDLRAP1	HYPCHFALDLRA	FAMILIAL HYPERCHOLESTEROLEMIA, LDLRAP1		225281CS
3047804557.0	RETINITIS PIGMENTOSA 26	RETPIG26	RETINITIS PIGMENTOSA 26		225281ID
3047801310.0	BARTTER SYNDROME	BARTTER	BARTTER SYNDROME		225281AJ
3047805395.0	BARDET-BIEDL SYNDROME, BBS12-RELATED	BBS12	BARDET BIEDL SYNDROME, BBS12 RELATED		225281AH
3047805389.0	ATAXIA WITH VITAMIN E DEFICIENCY	ATAXIAVITE	ATAXIA WITH VITAMIN E DEFIENCY		225281AA
3047801974.0	CONGENITAL INSENSIVITY TO PAIN WITH ANHI	CONGINSPWA	CONGENITAL INSENSIVITY TO PAIN WITH ANHI		225281BR
3047803301.0	LIPOID ADRENAL HYPERPLASIA	LIPADRHYPER	LIPOID ADRENAL HYPERPLASIA		225281FD
3047802766.0	HEPATOCEREBRAL MITOCHONDRIAL DNA DEPLETI	NTRAMITOCHON	HEPATOCEREBRAL MITOCHONDRIAL DNA DEPLETI		225281FW
3047805367.0	ACHROMATOPSIA	ACHROMATOP	ACHROMATOPSIA		225281I
3047802018.0	CRB1-RELATED RETINAL DYSTROPHIES	CRB1RERETDY	CRB1 RELATED RETINAL DYSTROPHIES		225281BZ
3047802307.0	ENHANCED S-CONE SYNDROME	ENHASCONSY	ENHANCED S CONE SYNDROME		225281CL
3047800786.0	3-PHOSPHOGLYCERATE DEHYDROGENASE DEFICIE	3PHOSPHODD	3 PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY		225281E
3047801935.0	COMBINED PITUITARY HORMONE DEFICIENCY-2	COMBPITHOD2	COMBINED PITUITARY HORMONE DEFICIENCY 2		225281BK
3047803289.0	LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2D	MUSCDYST2D	LIMB GIRDLE MUSCULAR DYSTROPHY, TYPE 2D		225281EZ
3047805414.0	CANAVAN DISEASE	CANAVAN	CANAVAN DISEASE		225281AP
3047800852.0	ACUTE INFANTILE LIVER FAILURE	ACINFLIVFAIL	ACUTE INFANTILE LIVER FAILURE		225281K
3047804282.0	PROPIONIC ACIDEMIA, PCCB-RELATED	PCCBPROACI	PROPIONIC ACIDEMIA, PCCB RELATED		225281HX
3047802899.0	HOMOCYSTINURIA, TYPE CBLE	NTRAHOMOCYS	HOMOCYSTINURIA, TYPE CBLE		225281EC
3047805522.0	HYDROLETHALUS SYNDROME	HYDROSYN	HYDROLETHALUS SYNDROME		225281ED
3047804214.0	PONTOCEREBELLAR HYPOPLASIA, TYPE 2D	PONTYPE2D	PONTOCEREBELLAR HYPOPLASIA, TYPE 2D		225281HU
3047803692.0	MYOTUBULAR MYOPATHY, X-LINKED	MYOTUBMYO	MYOTUBULAR MYOPATHY, X LINKED		225281GN
3047805651.0	SMITH-LEMLI-OPITZ SYNDROME	SLOS	SLOS, SYNDROME		225281IR
3047800783.0	3-HYDROXY-3-METHYLGLUTARYL-COA LYASE DEF	3HYDRO3METH	3 HYDROXY 3 METHYLGLUTARYL COA LYASE DEFICIENCY		225281B
3047803536.0	MITOCHONDRIAL COMPLEX 1 DEFIC NDUFS6	MITOCHONCOM	MITOCHONDRIAL COMPLEX 1 DEFIC NDUFS6		225281FV
3047801217.0	AUTISM SPECTRUM, EPILEPSY AND ARTHROGRYP	AUTISMSPEC	AUTISM SPECTRUM, EPILEPSY AND ARTHROGRYP		225281AC
3047803640.0	MUCOPOLYSACCHARIDOSIS, TYPE IIIC	MUCOPOLYSAC	MUCOPOLYSACCHARIDOSIS, TYPE IIIC		225281GF
3047801641.0	CARNITINE DEFICIENCY	CARNITINEDEF	CARNITINE DEFICIENCY		225281AR
3047803537.0	MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC	MITOMYOSID	MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC		225281FX
3047805503.0	GALACTOSEMIA	GALACTOSEMIA	GALACTOSEMIA		225281DC
3047805645.0	SANDHOFF DISEASE	SANDHOFF	SANDHOFF, DISEASE		225281IL
3047805190.0	USHER SYNDROME, TYPE 2A	USHT2A	USHER SYNDROME, TYPE 2A		225281JC
3047805483.0	FAMILIAL MEDITERRANEAN FEVER	FAMMED	FAMILIAL MEDITERRANEAN FEVER		225281CU
3047801973.0	CONGENITAL HYPERINSULINISM	CONHYPINS	CONGENITAL HYPERINSULINISM		225281EE
3047805548.0	LEIGH SYNDROME, FRENCH-CANADIAN TYPE	LEIGHSYN	LEIGH SYNDROME, FRENCH CANADIAN TYPE		225281ET
3047803886.0	ORNITHINE AMINOTRANSFERASE DEFICIENCY	ORNITHAMDEF	ORNITHINE AMINOTRANSFERASE DEFICIENCY		225281HE
3047801794.0	CHRONIC GRANULOMATOUS DISEASE, CYBA-REL	CGD	CHRONIC GRANULOMATOUS DISEASE, CYBA REL		225281BB
3047805541.0	ISOVALERIC ACIDEMIA	ISOVALERIC	ISOVALERIC ACIDEMIA		225281EK
3047803642.0	MUCOPOLYSACCHARIDOSIS, TYPE IVB	MUCOPOLYSAC	MUCOPOLYSACCHARIDOSIS, TYPE IVB		225281GH
3047800782.0	3-BETA-HYDROXYSTEROID DEHYDROGENASE II	3BETAHYDDEH	3 BETA HYDROXYSTEROID DEHYDROGENASE TYPE II DEFICIENCY		225281A
3047800891.0	ADRENOLEUKODYSTROPHY	ADRENOLEUK	ADRENOLEUKODYSTROPHY		225281M
3047802366.0	ETHYLMALONIC ENCEPHALOPATHY	ETHYLMALENC	ETHYLMALONIC ENCEPHALOPATHY		225281CM
3047803650.0	MULTIPLE SULPHATASE DEFICIENCY	MULTSUPHDEF	MULTIPLE SULPHATASE DEFICIENCY		225281GK
3047805455.0	CYSTIC FIBROSIS	CYSTICFIB	CYSTIC FIBROSIS		225281CB
3047805694.0	WILSON DISEASE	WILSONDIS	WILSONDIS, DISEASE		225281JG
3047802242.0	DUCHENNE/BECKER MUSCULAR DYSTROPHY	DUCHBECKMD	DUCHENNE BECKER MUSCULAR DYSTROPHY		225281CF
3047802112.0	DEAFNESS, AUTOSOMAL RECESSIVE 77	DEAFAUTORE77	DEAFNESS, AUTOSOMAL RECESSIVE 77		225281CE
3047803266.0	LETHAL CONGENITAL CONTRACTURE SYNDROME 1	LCCS	LETHAL CONGENITAL CONTRACTURE SYNDROME 1		225281EU
3047805393.0	BARDET-BIEDL SYNDROME, BBS10-RELATED	BBS10	BARDET BIEDL SYNDROME, BBS10 RELATED		225281AG
3047805375.0	ALSTROM SYNDROME	ALSTROM	ALSTROM SYNDROME		225281U
3047801301.0	BARE LYMPHOCYTE SYNDROME, CIITA	BARELYMPH	BARE LYMPHOCYTE SYNDROME, CIITA		225281AI
3047803290.0	LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2E	MUSCDYST2E	LIMB GIRDLE MUSCULAR DYSTROPHY, TYPE 2E		225281FA
3047802020.0	CREATINE TRANSPORTER DEFECT	CREATTRANDE	CREATINE TRANSPORTER DEFECT		225281CA
3047805546.0	KRABBE DISEASE	KRABBE	KRABBE DISEASE		225281EN
3047805425.0	CHOROIDEREMIA	CHOROIDEREM	CHOROIDEREMIA		225281BA
3047803398.0	MAPLE SYRUP URINE DISEASE, TYPE 1A	MAPLEUR	MAPLE SYRUP URINE DISEASE, TYPE 1A		225281FH
3047806892.0	ACYL-COA OXIDASE I DEFICIENCY	ACYLCOAOX	ACYL COA OXIDASE I DEFICIENCY		225281L
3047801174.0	ARGININOSUCCINATE LYASE DEFICIENCY	ARGININOSULD	ARGININOSUCCINATE LYASE DEFICIENCY		225281W
3047805552.0	LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENA	LONGCHAIN3	LONG CHAIN 3 HYDROXYACYL COA DEHYDROGENA		225281FF
3047803857.0	OMENN SYNDROME	OMENSYN	OMENN SYNDROME		225281HD
3047802778.0	HERMANSKY-PUDLAK SYNDROME, HPS1-RELATED	NTRAHERMANSK	HERMANSKY PUDLAK SYNDROME, HPS1 RELATED		225281DX
3047802639.0	GLYCOGEN STORAGE DISEASE, TYPE 4	NTRAGSDT4	GLYCOGEN STORAGE DISEASE, TYPE 4		225281DO
3047802295.0	ELLIS-VAN CREVELD SYNDOME	ELLISVANCSYN	ELLIS VAN CREVELD SYNDOME		225281CJ
3047800804.0	6-PYRUVOYL-TETRAHYDROPTERIN SYNTHASE	6PYRUTETASY	6 PYRUVOYL TETRAHYDROPTERIN SYNTHASE		225281F
3047803506.0	METHYLMALONIC ACIDURIA, MMAB-RELATED	METHYLACID	METHYLMALONIC ACIDURIA, MMAB RELATED		225281FR
3047801369.0	BETA-HEMOGLOBINOPATHIES	BHEMOGLOB	BETA HEMOGLOBINOPATHIES		225281AL
3047801643.0	CARNITINE PALMITOYLTRANSFERASE IA DEF	CPTDEF	CARNITINE PALMITOYLTRANSFERASE IA DEF		225281AS
3047802675.0	GUANIDINOACETATE METHYLTRANSFERASE DEFIC	NTRAGUANIDIN	GUANIDINOACETATE METHYLTRANSFERASE DEFIC		225281DS
3047803894.0	OSTEOPETROSIS, INFANTILE MALIGNANT	OSTPETROSIS	OSTEOPETROSIS, INFANTILE MALIGNANT		225281HG
3047801731.0	CHARCOT-MARIE-TOOTH DISEASE WITH DEAFNES	CHARCOTMARIE	CHARCOT MARIE TOOTH DISEASE WITH DEAFNES		225281AX
3047801967.0	CONGENITAL DISORDER OF GLYCOSYLATION 1A	CONDOGLYC1A	CONGENITAL DISORDER OF GLYCOSYLATION 1A		225281BN
3047801780.0	CHOREOACANTHOCYTOSIS	CHOREOACAN	CHOREOACANTHOCYTOSIS		225281AZ
3047804256.0	PRIMARY HYPEROXALURIA, TYPE 1	PRHYTY1	PRIMARY HYPEROXALURIA, TYPE 1		225281HR
3047805505.0	GAUCHER DISEASE	GAUCHER	GAUCHER DISEASE		225281DD
3047802281.0	EHLERS-DANLOS SYNDROME, TYPE VIIC	EHLDANSYNT93	EHLERS DANLOS SYNDROME, TYPE VIIC		225281CI
3047802001.0	COSTEFF SYNDROME	COSTEFFSYN	COSTEFF SYNDROME		225281BY
3047801732.0	CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D	CHARCOTMARIE	CHARCOT MARIE TOOTH DISEASE, TYPE 4D		225281AY
3047805441.0	CONGENITAL FINNISH NEPHROSIS	CONGFINNISH	CONGENITAL FINNISH NEPHROSIS		225281BQ
3047803631.0	MUCOLIPIDOSIS, TYPE IV	MUCOLIPID	MUCOLIPIDOSIS, TYPE IV		225281GA
3047803503.0	METHYLMALONIC ACIDURIA AND HOMOCYST CBID	METHYLACID	METHYLMALONIC ACIDURIA AND HOMOCYST CBID		225281FP
3047803729.0	NEURONAL CEROID LIPOFUSCINOSIS, CLN5	NEURONCERLIP	NEURONAL CEROID LIPOFUSCINOSIS, CLN5		225281GQ
3047803291.0	LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2I	MUSCDYST2I	LIMB GIRDLE MUSCULAR DYSTROPHY, TYPE 2I		225281FB
3047803445.0	METACHROMATIC LEUKODYSTROPHY, ARSA	METALEUKO	METACHROMATIC LEUKODYSTROPHY, ARSA		225281FM
3047804682.0	SEGAWA SYNDROME, TH-RELATED	SEGSYND	SEGAWA SYNDROME, TH RELATED		225281IN
3047802638.0	GLYCOGEN STORAGE DISEASE, TYPE 3	NTRAGSDT3	GLYCOGEN STORAGE DISEASE, TYPE 3		225281DN
3047805623.0	PYCNODYSOSTOSIS	PYCNODY	PYCNODY, PYCNODYSOSTOSIS		225281HY
3047803518.0	MICROPHTHALMIA/ANOPHTHALMIA	MICROPHANO	MICROPHTHALMIA ANOPHTHALMIA		225281FT
3047803954.0	PANEL NOTES	PANELNOTE	PANEL NOTES		225043B
3047804394.0	PYRUVATE DEHYDROGENASE DEFICIENCY X-LINK	PYDEHDEFX	PYRUVATE DEHYDROGENASE DEFICIENCY X LINK		225281IA
3047803636.0	MUCOPOLYSACCHARIDOSIS, TYPE I	MUCOPOLYSAC	MUCOPOLYSACCHARIDOSIS, TYPE I		225281GB
3047801812.0	CITRULLINEMIA, TYPE 1	CITRULLINEMI	CITRULLINEMIA, TYPE 1		225281BF
3047803730.0	NEURONAL CEROID LIPOFUSCINOSIS, CLN6	NEURONCERLIP	NEURONAL CEROID LIPOFUSCINOSIS, CLN6		225281GR
3047804393.0	PYRUVATE DEHYDROGENASE DEFICIENCY AUTOSO	PYDEHDEFA	PYRUVATE DEHYDROGENASE DEFICIENCY AUTOSO		225281HZ
3047804556.0	RETINITIS PIGMENTOSA 25	RETPIG25	RETINITIS PIGMENTOSA 25		225281IC
3047805191.0	USHER SYNDROME, TYPE 3	USHT3	USHER SYNDROME, TYPE 3		225281JD
3047805612.0	PENDRED SYNDROME	PENDREDSYN	PENDREDSYN, SYNDROME		225281HH
3047802641.0	GLYCOGEN STORAGE DISEASE, TYPE 7	NTRAGSDT7	GLYCOGEN STORAGE DISEASE, TYPE 7		225281DQ
3047803691.0	MYONEUROGASTROINTESTINAL ENCEPHALOPATHY	MYPGASINTENC	MYONEUROGASTROINTESTINAL ENCEPHALOPATHY		225281GM
3047802392.0	FACTOR IX DEFICIENCY	FACTORIXDEF	FACTOR IX DEFICIENCY		225281CO
3047804266.0	PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLES	PROFAMINTRA	PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLES		225281HV
3047801370.0	BETA-KETOTHIOLASE DEFICIENCY	BKETODEF	BETA KETOTHIOLASE DEFICIENCY		225281EM
3047803246.0	LEBER CONGENITAL AMAUROSIS 2	LEBER	LEBER CONGENITAL AMAUROSIS 2		225281EP
3047805509.0	GRACILE SYNDROME	GRACILE	GRACILE SYNDROME		225281DR
3047801934.0	COMBINED OXIDATIVE PHOSPHORYLATION DEF 3	COMBOXIPHD3	COMBINED OXIDATIVE PHOSPHORYLATION DEF 3		225281BI
3047803505.0	METHYLMALONIC ACIDURIA, MMAA-RELATED	METHYLACID	METHYLMALONIC ACIDURIA, MMAA RELATED		225281FQ
3047803734.0	NEURONAL CEROID LIPOFUSCINOSIS, TPP1-REL	NEURONCERLIP	NEURONAL CEROID LIPOFUSCINOSIS, TPP1 REL		225281GV
3047800949.0	ALPHA THALASSEMIA INTELLECTUAL DIS SYNDR	ATHALASSINTD	ALPHA THALASSEMIA INTELLECTUAL DIS SYNDROME		225281Q
3047805501.0	GALACTOKINASE DEFICIENCY	GALACTODEF	GALACTOKINASE DEFICIENCY		225281DB
3047801224.0	AUTOSOMAL RECESSIVE SPASTIC ATAXIA OF CH	AUTORSAC	AUTOSOMAL RECESSIVE SPASTIC ATAXIA OF CH		225281AD
3047801991.0	CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNES	CORNDYSPERDF	CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNES		225281BW
3047804281.0	PROPIONIC ACIDEMIA, PCCA-RELATED	PCCAREPROACI	PROPIONIC ACIDEMIA, PCCA RELATED		225281HW
3047802248.0	DYSTROPHIC EPIDERMOLYSIS BULLOSA	DYSTEPICBU	DYSTROPHIC EPIDERMOLYSIS BULLOSA		225281CH
3047803399.0	MAPLE SYRUP URINE DISEASE, TYPE 1B	MAPLEUR	MAPLE SYRUP URINE DISEASE, TYPE 1B		225281FI
3047805371.0	ALPHA-MANNOSIDOSIS	AMANNOSID	ALPHA MANNOSIDOSIS		225281O
3047805331.0	ZELLWEGER SPECTRUM DISORDERS, PEX6-RELAT	ZELLWEGE	ZELLWEGER SPECTRUM DISORDERS, PEX6 RELAT		225281JM
3047800785.0	3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFIC	3METHCOACAR2	3 METHYLCROTONYL COA CARBOXYLASE 2 DEFICIENCY		225281D
3047804208.0	POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL REC	POLYCYSKID	POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL REC		225281HK
3047804717.0	SEVERE COMBINED IMMUNODEFICIENCY, X-LINK	SEVIMMXL	SEVERE COMBINED IMMUNODEFICIENCY, X LINK		225281JJ
3047805476.0	FACTOR XI DEFICIENCY	FACTORXI	FACTOR XI DEFICIENCY		225281CP
3047804566.0	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA 3	RHCHPUTY3	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA 3		225281IH
3047805189.0	USHER SYNDROME, TYPE 1F	USHT1F	USHER SYNDROME, TYPE 1F		225281JB
3047805661.0	STEROID-RESISTANT NEPHROTIC SYNDROME	SRNS	SRNS, SYNDROME		225281IU
3047805459.0	D-BIFUNCTIONAL PROTEIN DEFICIENCY	DBIFUNCPROT	D BIFUNCTIONAL PROTEIN DEFICIENCY		225281CD
3047802635.0	GLYCOGEN STORAGE DISEASE, TYPE 1A	GLYCSD1A	GLYCOGEN STORAGE DISEASE, TYPE 1A		225281DK
3047805478.0	HORIZON 274 CARRIER SCREEN FAMILIAL DYSAUTONOMIA	FAMDYSA	HORIZON 274 CARRIER SCREEN FAMILIAL DYSAUTONOMIA		225281CQ
3047801795.0	CHRONIC GRANULOMATOUS DISEASE, X-LINKED	CGD	CHRONIC GRANULOMATOUS DISEASE, X LINKED		225281BC
3047805597.0	ORNITHINE TRANSCARBAMYLASE DEFICIENCY	OTD	OTD, DEFICIENCY		225281HF
3047802779.0	HERMANSKY-PUDLAK SYNDROME, HPS3-RELATED	NTRAHERPUD	HERMANSKY PUDLAK SYNDROME, HPS3 RELATED		225281DY
3047805609.0	PDF REPORT	PDF	PDF, REPORT		225043E
3047805649.0	SJOGREN-LARSSON SYNDROME	SJOG	SJOG, SYNDROME		225281IQ
3047801978.0	CONGENITAL NEUTROPENIA, VPS45-RELATED	CONGNEUTRVP	CONGENITAL NEUTROPENIA, VPS45 RELATED		225281BV
3047804213.0	PONTOCEREBELLAR HYPOPLASIA, TYPE 1A	PONTYPE1A	PONTOCEREBELLAR HYPOPLASIA, TYPE 1A		225281HM
3047803628.0	MUCOLIPIDOSIS II/IIIA	MUCOLIPID	MUCOLIPIDOSIS II IIIA		225281FY
3047801977.0	CONGENITAL NEUTROPENIA, HAX1-RELATED	CONGNEUHAX	CONGENITAL NEUTROPENIA, HAX1 RELATED		225281BU
3047801975.0	CONGENITAL MYASTHENIC SYNDROME, CHRNE	CONGMYASNCH	CONGENITAL MYASTHENIC SYNDROME, CHRNE		225281BS
3047804252.0	PRIMARY CILIARY DYSKINESIA DNAI2-RELATED	PCDDNAI2	PRIMARY CILIARY DYSKINESIA, DNAI2 RELATED	Primary Ciliary Dyskinesia, DNAI2-Related	225281HQ
3047801933.0	COMBINED OXIDATIVE PHOSPHORYLATION DEF 1	COMBOXIPHD1	COMBINED OXIDATIVE PHOSPHORYLATION DEF 1		225281BJ
3047800964.0	ALPORT SYNDROME, X-LINKED	ALPORTSY	ALPORT SYNDROME, X LINKED		225281T
3047805363.0	ABETALIPOPROTEINEMIA	ABETALIPO	ABETALIPOPROTEINEMIA		225281G
3047800962.0	ALPORT SYNDROME, COL4A3-RELATED	ALPORTSY	ALPORT SYNDROME, COL4A3 RELATED		225281R
3047804587.0	ROBERTS SYNDROME	ROBSYN	ROBERTS SYNDROME		225281IJ
3047803732.0	NEURONAL CEROID LIPOFUSCINOSIS, MFSD8	NEURONCERLIP	NEURONAL CEROID LIPOFUSCINOSIS, MFSD8		225281GT

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Horizon 274 Carrier Screen (Pan-Ethnic Panel)

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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 3/11/2025