EPIC Test Compendium Alpha
Welcome to the new Northwell Health Labs Test Directory, please call our Client Services Department at 1-800-472-5757 with any typos, corrections or issues.

Horizon 274 Carrier Screen (Pan-Ethnic Panel)

Test Catalog Information

Test Catalog Synonyms
EPIC Synonyms	HCS WOMEN'S HEALTH CARRIER SCREENING NATERA
Cerner Primary Mnemonic	Horizon 274 Carrier Screen
EPIC Display Name	Horizon 274 Carrier Screen (Pan-Ethnic Panel)
Allscripts (AEHR) Order Name	Horizon 274 Carrier Screen
Sunrise Clinical Manager (SCM) Order Name	Horizon 274 Carrier Screen
EPIC Inpatient Orderable	Yes
EPIC Outpatient Orderable	Yes
Cerner Results	Omenn Syndrome Alport Syndrome, COL4A4-Related Fragile X Syndrome Ellis-van Creveld Syndome Combined Oxidative Phosphorylation Def 3 Medium Chain Acyl-CoA Dehydrogenase Def Leigh Syndrome, French-Canadian Type Usher Syndrome, Type 1D Retinitis Pigmentosa 59 Non-Syndromic Hearing Loss, GJB2-Related Lysinuric Protein Intolerance Andermann Syndrome Zellweger Spectrum Disorders, PEX1-Relat Alpha-Thalassemia Schimke Immunoosseous Dysplasia Severe Combined Immunodeficiency, X-link Charcot-Marie-Tooth Disease, Type 4D Carbamoyl Phosphate Synthetase I Def Methylmalonic Aciduria and Homocyst cbID Achromatopsia Steroid-Resistant Nephrotic Syndrome D-Bifunctional Protein Deficiency Cystinosis Glycogen Storage Disease, Type 1A Glycogen Storage Disease, Type 5 Hermansky-Pudlak Syndrome, HPS3-Related Congenital Adrenal Hyperplasia, 17-Alpha Microphthalmia/Anophthalmia Report Note Bare Lymphocyte Syndrome, CIITA Canavan Disease Pyruvate Dehydrogenase Deficiency Autoso Asparagine Synthetase Deficiency Niemann-Pick Disease, Type C1/D Myotubular Myopathy, X-linked Maple Syrup Urine Disease, Type 1A Mucopolysaccharidosis, Type IIIC Alport Syndrome, COL4A3-Related Glutaric Acidemia, Type 2C Long Chain 3-Hydroxyacyl-CoA Dehydrogena Factor IX Deficiency Progressive Familial Intrahepatic Choles Emery-Dreifuss Muscular Dystrophy 1 X-li Citrin Deficiency GRACILE Syndrome Fanconi Anemia, Group A Batten Disease Mucolipidosis III gamma Galactosemia Alpha Thalassemia Intellectual Dis Syndr Walker-Warburg Syndrome Ataxia With Vitamin E Deficiency Achondrogenesis, Type 1B Neuronal Ceroid Lipofuscinosis, PPT1-Rel 3-Methylcrotonyl-CoA Carboxylase 2 Defic Ethylmalonic Encephalopathy Aspartylglycosaminuria Mucopolysaccharidosis, Type II Cystic Fibrosis CRB1-Related Retinal Dystrophies Familial Dysautonomia Nemaline Myopathy Combined Pituitary Hormone Deficiency-2 Bardet-Biedl Syndrome, BBS1-Related Panel Notes Congenital Disorder of Glycosylation 1B Retinitis Pigmentosa 28 Neuronal Ceroid Lipofuscinosis, CLN6 Mucolipidosis II/IIIA Glycine Encephalopathy, AMT-Related Autism Spectrum, Epilepsy and Arthrogryp Ataxia-Telangiectasia Very Long Chain Acyl-CoA Dehydrogenase Mitochondrial Myopathy and Sideroblastic Renal Tubular Acidosis and deafness Limb-Girdle Muscular Dystrophy, Type 2A Mucopolysaccharidosis, Type IIID Leber Congenital Amaurosis 2 Mucopolysaccharidosis, Type IIIB Rhizomelic Chondrodysplasia Punctata 1 Spinal Muscular Atrophy Methylmalonic Aciduria, MMAB-Related Carnitine Palmitoyltransferase IA Def Congenital Myasthenic Syndrome, RAPSN-Re Corneal Dystrophy and Perceptive Deafnes Propionic Acidemia, PCCA-Related Bardet-Biedl Syndrome, BBS12-Related Isovaleric Acidemia Primary Hyperoxaluria, Type 2 Hemochromatosis, Type 2A Mucopolysaccharidosis, Type IVB Congenital Insensivity to Pain with Anhi Costeff Syndrome Familial Neuropophyseal Diabetes Insipid 3-Beta-Hydroxysteroid Dehydrogenase II Congenital Finnish Nephrosis Usher Syndrome, Type 1F Segawa Syndrome, TH-Related Inclusion Body Myopathy 2 Holocarboxylase Synthetase Deficiency Limb-Girdle Muscular Dystrophy, Type 2C Ornithine Transcarbamylase Deficiency Pyruvate Dehydrogenase Deficiency X-Link Spondylothoracic Dysostosis Retinitis Pigmentosa 25 Usher Syndrome, Type 3 Congenital Neutropenia, HAX1-Related Meckel-Gruber Syndrome, Type 1 Combined Malonic and Methylmalonic Acidu Methylmalonic Aciduria, MMAA-Related Hereditary Spastic Paraparesis, Type 49 Metachromatic Leukodystrophy, PSAP Chronic Granulomatous Disease, CYBA-Rel Severe Combined Immunodeficiency, Type A Muscle-Eye-Brain Disease, POMGNT1-Relate Guanidinoacetate Methyltransferase Defic Zellweger Spectrum Disorders, PEX10-Rela Mucopolysaccharidosis, Type IIIA Cartilage-Hair Hypoplasia Congenital Disorder of Glycosylation 1A Choreoacanthocytosis Zellweger Spectrum Disorders, PEX6-Relat Ehlers-Danlos Syndrome, Type VIIC Polycystic Kidney Disease, Autosomal Rec Glycogen Storage Disease, Type 1B Methylmalonic Aciduria and Homocyst cbIC Bardet-Biedl Syndrome, BBS10-Related Mucopolysaccharidosis, Type VI Report Summary Citrullinemia, Type 1 Fanconi Anemia, Group G Infantile Cerebral and Cerebellar Atroph Congenital Neutropenia, VPS45-Related Lipoamide Dehydrogenase Deficiency Glycogen Storage Disease, Type 2 Pontocerebellar Hypoplasia, Type 1A Hydrolethalus Syndrome Mitochondrial Complex 1 Defic ACAD9 Congenital Myasthenic Syndrome, CHRNE Alport Syndrome, X-linked Mitochondrial Complex 1 Defic NDUFS6 Carnitine Palmitoyltransferase II Def Aicardi-Gouti?res Syndrome Acyl-CoA Oxidase I Deficiency Carnitine Deficiency N-acetylglutamate Synthase Deficiency Sandhoff Disease Acrodermatitis Enteropathica Congenital Hyperinsulinism Gitelman Syndrome 6-Pyruvoyl-Tetrahydropterin Synthase Menkes Syndrome Fanconi Anemia, Group C Hemochromatosis, Type 3, TFR2-Related Galactokinase Deficiency Maple Syrup Urine Disease, Type 1B Glutaric Acidemia, Type 1 Niemann-Pick Disease, Type C2 Gaucher Disease Corticosterone Methyloxidase Deficiency Lamellar Ichthyosis, Type 1 Glutaric Acidemia, Type 2A Limb-Girdle Muscular Dystrophy, Type 2I Metachromatic Leukodystrophy, ARSA Pituitary Hormone Deficiency, Combined 3 Enhanced S-Cone Syndrome Duchenne/Becker Muscular Dystrophy 3-Phosphoglycerate Dehydrogenase Deficie Hyperornithinemia-Hyperammonemia-Homocit Homocystinuria due to Defic of MTHFR Sjogren-Larsson Syndrome Severe Combined Immunodeficiency ADA-Rel Bardet-Biedl Syndrome, BBS2-Related Homocystinuria, Type cblE Glycogen Storage Disease, Type 7 3-Hydroxy-3-Methylglutaryl-CoA Lyase Def Bilateral Frontoparietal Polymicrogyria Tay-Sachs Disease Cohen Syndrome Hermansky-Pudlak Syndrome, HPS1-Related Usher Syndrome, Type 2A Lipoprotein Lipase Deficiency Zellweger Spectrum Disorders, PEX2-Relat Beta-Hemoglobinopathies Hereditary Fructose Intolerance Osteopetrosis, Infantile Malignant Autoimmune Polyglandular Syndrome Tyrosinemia, Type I Bartter Syndrome Primary Hyperoxaluria, Type 1 Usher Syndrome, Type 1B Dyskeratosis Congenita Familial Hypercholesterolemia, LDLR Mucolipidosis, Type IV Factor XI Deficiency Lipoid Adrenal Hyperplasia Neuronal Ceroid Lipofuscinosis, CLN5 Wilson Disease Deafness, Autosomal Recessive 77 Glycogen Storage Disease, Type 3 Aromatase Deficiency Hypophosphatasia, ALPL-Related Pycnodysostosis Lethal Congenital Contracture Syndrome 1 Footnotes PDF Pendred Syndrome Mitochondrial Complex 1 Defic NDUFAF5 Pontocerebellar Hypoplasia, Type 2D Primary Hyperoxaluria, Type 3 Krabbe Disease Salla Disease Megalencephalic Leukoencephalopathy Abetalipoproteinemia Joubert Syndrome 2 Argininosuccinate Lyase Deficiency Congenital Amegakaryocytic Thrombocytope Wolman Disease Niemann-Pick Disease, Types A/B Leber Congenital Amaurosis, Type RDH12 Stuve-Wiedemann Syndrome Beta-Ketothiolase Deficiency Pontocerebellar Hypoplasia, RARS2-Relate Glycogen Storage Disease, Type 4 Neuronal Ceroid Lipofuscinosis, TPP1-Rel Ornithine Aminotransferase Deficiency Biotinidase Deficiency Odonto-onycho-dermal Dysplasia Primary Ciliary Dyskinesia DNAI1-Related Ciliopathies, RPGRIP1L-Related Limb-Girdle Muscular Dystrophy, Type 2B Glycine Encephalopathy, GLDC-Rel Hepatocerebral Mitochondrial DNA Depleti Rhizomelic Chondrodysplasia Punctata 3 Multiple Sulphatase Deficiency Mucopolysaccharidosis, Type IX Chronic Granulomatous Disease, X-linked Fumarase Deficiency Neuronal Ceroid Lipofuscinosis, CLN8 Limb-Girdle Muscular Dystrophy, Type 2D Mucopolysaccharidosis, Type I Bloom Syndrome Phenylketonuria Homocystinuria, CBS-Related Primary Ciliary Dyskinesia DNAH5-Related Familial Mediterranean Fever Leukoencephalopathy with Vanishing White Methylmalonic Aciduria, Type mut(0) Familial Hypercholesterolemia, LDLRAP1 Retinitis Pigmentosa 26 Hypohidrotic Ectodermal Dysplasia X-link Charcot-Marie-Tooth Disease with Deafnes Autosomal Recessive Spastic Ataxia of Ch Dystrophic Epidermolysis Bullosa Fabry Disease Alpha-Mannosidosis 3-Methylcrotonyl-CoA Carboxylase 1 Defic Adrenoleukodystrophy Usher Syndrome, Type 1C Leber Congenital Amaurosis, Type CEP290 Alstrom Syndrome Familial Hyperinsulinism Limb-Girdle Muscular Dystrophy, Type 2E Nijmegen Breakage Syndrome Acute Infantile Liver Failure Creatine Transporter Defect Juvenile Retinoschisis, X-Linked Propionic Acidemia, PCCB-Related Primary Ciliary Dyskinesia DNAI2-Related Combined Oxidative Phosphorylation Def 1 Smith-Lemli-Opitz Syndrome Choroideremia Carpenter Syndrome Cerebrotendinous Xanthomatosis Leber Congenital Amaurosis, Type LCA5 Roberts Syndrome Congenital Disorder of Glycosylation 1C Myoneurogastrointestinal Encephalopathy Neuronal Ceroid Lipofuscinosis, MFSD8
Clinical Info	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
Specimen Type	Blood
Container	Lavender Top Tube
Collection Instructions	Container/Tube: Lavender (EDTA) Top Tube Specimen: 2-3 mL whole blood (2 mL min) Transport Temperature: Room Temperature Ask at order entry questors required: Patient Ethnicity Patient Pregnant Y/N)
Transport Instructions
Specimen Stability	14 Days Room Temperature
Methodology	Next Generation sequencing
Days Performed
Performing Laboratory	Natera, Inc.
CPT	81220 81222 81443 81243 81329 81257
PDM	225281

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

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)

Order Entry Specimen Sources *

Order Entry Specimen Types

Blood

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

Yes

OP Orderable

Yes

AOEs *

AP AOEs

Special History

Build Comments

Filter *

genetics

Procedure Category Change

Cerner Results

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

Actual Epic build

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

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

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	No
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	No
3048500036	NH IP ETHNICITY CUSTOM LIST

EPIC Components (results)

Component ID	Component Name	Base Name	Common Name	Cerner Result PDM
3047803857.0	OMENN SYNDROME	OMENSYN	OMENN SYNDROME	225281HD
3047800963.0	ALPORT SYNDROME, COL4A4-RELATED	ALPORTSY	ALPORT SYNDROME, COL4A4-RELATED	225281S
3047805497.0	FRAGILE X SYNDROME	FRAGILEX	FRAGILE X SYNDROME	225281CZ
3047802295.0	ELLIS-VAN CREVELD SYNDOME	ELLISVANCSYN	ELLIS-VAN CREVELD SYNDOME	225281CJ
3047801934.0	COMBINED OXIDATIVE PHOSPHORYLATION DEF 3	COMBOXIPHD3	COMBINED OXIDATIVE PHOSPHORYLATION DEF 3	225281BI
3047803418.0	MEDIUM CHAIN ACYL-COA DEHYDROGENASE DEF	ACYLCOA	MEDIUM CHAIN ACYL-COA DEHYDROGENASE DEF	225281FK
3047805548.0	LEIGH SYNDROME, FRENCH-CANADIAN TYPE	LEIGHSYN	LEIGH SYNDROME, FRENCH-CANADIAN TYPE	225281ET
3047805188.0	USHER SYNDROME, TYPE 1D	USHT1D	USHER SYNDROME, TYPE 1D	225281JA
3047804559.0	RETINITIS PIGMENTOSA 59	RETPIG59	RETINITIS PIGMENTOSA 59	225281IF
3047803765.0	NON-SYNDROMIC HEARING LOSS, GJB2-RELATED	NONSYNDRHL	NON-SYNDROMIC HEARING LOSS, GJB2-RELATED	225281HA
3047803362.0	LYSINURIC PROTEIN INTOLERANCE	LYSINURIC	LYSINURIC PROTEIN INTOLERANCE	225281FG
3047805383.0	ANDERMANN SYNDROME	ANDERMANN	ANDERMANN SYNDROME	225281V
3047805329.0	ZELLWEGER SPECTRUM DISORDERS, PEX1-RELAT	ZELLWEGE	ZELLWEGER SPECTRUM DISORDERS, PEX1-RELAT	225281JK
3047800961.0	ALPHA-THALASSEMIA	ATHALASS	ALPHA-THALASSEMIA	225281P
3047804667.0	SCHIMKE IMMUNOOSSEOUS DYSPLASIA	SCHIMMDYSP	SCHIMKE IMMUNOOSSEOUS DYSPLASIA	225281IM
3047804717.0	SEVERE COMBINED IMMUNODEFICIENCY, X-LINK	SEVIMMXL	SEVERE COMBINED IMMUNODEFICIENCY, X-LINK	225281JJ
3047801732.0	CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D	CHARCOTMARIE	CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D	225281AY
3047801623.0	CARBAMOYL PHOSPHATE SYNTHETASE I DEF	CPSDEF	CARBAMOYL PHOSPHATE SYNTHETASE I DEF	225281AQ
3047803503.0	METHYLMALONIC ACIDURIA AND HOMOCYST CBID	METHYLACID	METHYLMALONIC ACIDURIA AND HOMOCYST CBID	225281FP
3047805367.0	ACHROMATOPSIA	ACHROMATOP	ACHROMATOPSIA	225281I
3047805661.0	STEROID-RESISTANT NEPHROTIC SYNDROME	SRNS	SRNS, SYNDROME	225281IU
3047805459.0	D-BIFUNCTIONAL PROTEIN DEFICIENCY	DBIFUNCPROT	D-BIFUNCTIONAL PROTEIN DEFICIENCY	225281CD
3047805457.0	CYSTINOSIS	CYSTINOSIS	CYSTINOSIS	225281CC
3047802635.0	GLYCOGEN STORAGE DISEASE, TYPE 1A	GLYCSD1A	GLYCOGEN STORAGE DISEASE, TYPE 1A	225281DK
3047802640.0	GLYCOGEN STORAGE DISEASE, TYPE 5	NTRAGSDT5	GLYCOGEN STORAGE DISEASE, TYPE 5	225281DP
3047802779.0	HERMANSKY-PUDLAK SYNDROME, HPS3-RELATED	NTRAHERPUD	HERMANSKY-PUDLAK SYNDROME, HPS3-RELATED	225281DY
3047801965.0	CONGENITAL ADRENAL HYPERPLASIA, 17-ALPHA	CONGADNHY17A	CONGENITAL ADRENAL HYPERPLASIA, 17-ALPHA	225281BL
3047803518.0	MICROPHTHALMIA/ANOPHTHALMIA	MICROPHANO	MICROPHTHALMIA/ANOPHTHALMIA	225281FT
3047805629.0	REPORT NOTES	REPORTNOTE	REPORTNOTE, NOTES	225043C
3047801301.0	BARE LYMPHOCYTE SYNDROME, CIITA	BARELYMPH	BARE LYMPHOCYTE SYNDROME, CIITA	225281AI
3047805414.0	CANAVAN DISEASE	CANAVAN	CANAVAN DISEASE	225281AP
3047804393.0	PYRUVATE DEHYDROGENASE DEFICIENCY AUTOSO	PYDEHDEFA	PYRUVATE DEHYDROGENASE DEFICIENCY AUTOSO	225281HZ
3047801196.0	ASPARAGINE SYNTHETASE DEFICIENCY	ASPARAGINESD	ASPARAGINE SYNTHETASE DEFICIENCY	225281Y
3047803745.0	NIEMANN-PICK DISEASE, TYPE C1/D	NIEMPICKC1D	NIEMANN-PICK DISEASE, TYPE C1/D	225281GX
3047803692.0	MYOTUBULAR MYOPATHY, X-LINKED	MYOTUBMYO	MYOTUBULAR MYOPATHY, X-LINKED	225281GN
3047803398.0	MAPLE SYRUP URINE DISEASE, TYPE 1A	MAPLEUR	MAPLE SYRUP URINE DISEASE, TYPE 1A	225281FH
3047803640.0	MUCOPOLYSACCHARIDOSIS, TYPE IIIC	MUCOPOLYSAC	MUCOPOLYSACCHARIDOSIS, TYPE IIIC	225281GF
3047800962.0	ALPORT SYNDROME, COL4A3-RELATED	ALPORTSY	ALPORT SYNDROME, COL4A3-RELATED	225281R
3047802623.0	GLUTARIC ACIDEMIA, TYPE 2C	NTRAGLUTYP2C	GLUTARIC ACIDEMIA, TYPE 2C	225281DG
3047805552.0	LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENA	LONGCHAIN3	LONG CHAIN 3-HYDROXYACYL-COA-DEHYDROGENA	225281FF
3047802392.0	FACTOR IX DEFICIENCY	FACTORIXDEF	FACTOR IX DEFICIENCY	225281CO
3047804266.0	PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLES	PROFAMINTRA	PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLES	225281HV
3047802300.0	EMERY-DREIFUSS MUSCULAR DYSTROPHY 1 X-LI	EMERYDMD	EMERY-DREIFUSS MUSCULAR DYSTROPHY 1 X-LI	225281CK
3047801808.0	CITRIN DEFICIENCY	CITRINDEF	CITRIN DEFICIENCY	225281BE
3047805509.0	GRACILE SYNDROME	GRACILE	GRACILE SYNDROME	225281DR
3047802418.0	FANCONI ANEMIA, GROUP A	FANCONIANGRA	FANCONI ANEMIA, GROUP A	225281CW
3047801318.0	BATTEN DISEASE	BATTEN	BATTEN DISEASE	225281AK
3047805576.0	MUCOLIPIDOSIS III GAMMA	MUCOLIPGAM	MUCOLIPGAM, GAMMA	225281FZ
3047805503.0	GALACTOSEMIA	GALACTOSEMIA	GALACTOSEMIA	225281DC
3047800949.0	ALPHA THALASSEMIA INTELLECTUAL DIS SYNDR	ATHALASSINTD	ALPHA THALASSEMIA INTELLECTUAL DIS SYNDROME	225281Q
3047805689.0	WALKER-WARBURG SYNDROME	WWSYND	WWSYND, SYNDROME	225281JF
3047805389.0	ATAXIA WITH VITAMIN E DEFICIENCY	ATAXIAVITE	ATAXIA WITH VITAMIN E DEFIENCY	225281AA
3047800846.0	ACHONDROGENESIS, TYPE 1B	ACHONDROG1B	ACHONDROGENESIS, TYPE 1B	225281H
3047803733.0	NEURONAL CEROID LIPOFUSCINOSIS, PPT1-REL	NEURONCERLIP	NEURONAL CEROID LIPOFUSCINOSIS, PPT1-REL	225281GU
3047800785.0	3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFIC	3METHCOACAR2	3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY	225281D
3047802366.0	ETHYLMALONIC ENCEPHALOPATHY	ETHYLMALENC	ETHYLMALONIC ENCEPHALOPATHY	225281CM
3047805387.0	ASPARTYLGLYCOSAMINURIA	ASPARTYLGLYO	ASPARTYLGLYCOSAMINURIA	225281Z
3047803637.0	MUCOPOLYSACCHARIDOSIS, TYPE II	MUCOPOLYSAC	MUCOPOLYSACCHARIDOSIS, TYPE II	225281GC
3047805455.0	CYSTIC FIBROSIS	CYSTICFIB	CYSTIC FIBROSIS	225281CB
3047802018.0	CRB1-RELATED RETINAL DYSTROPHIES	CRB1RERETDY	CRB1-RELATED RETINAL DYSTROPHIES	225281BZ
3047805478.0	HORIZON 274 CARRIER SCREEN FAMILIAL DYSAUTONOMIA	FAMDYSA	HORIZON 274 CARRIER SCREEN FAMILIAL DYSAUTONOMIA	225281CQ
3047805581.0	NEMALINE MYOPATHY	NEMALINEMYO	NEMALINEMYO, MYOPATHY	225281GP
3047801935.0	COMBINED PITUITARY HORMONE DEFICIENCY-2	COMBPITHOD2	COMBINED PITUITARY HORMONE DEFICIENCY-2	225281BK
3047805397.0	BARDET-BIEDL SYNDROME, BBS1-RELATED	BBS1	BARDET-BIEDL SYNDROME, BBS1-RELATED	225281AE
3047803954.0	PANEL NOTES	PANELNOTE	PANEL NOTES	225043B
3047801968.0	CONGENITAL DISORDER OF GLYCOSYLATION 1B	CONDOGLYC1B	CONGENITAL DISORDER OF GLYCOSYLATION 1B	225281BO
3047804558.0	RETINITIS PIGMENTOSA 28	RETPIG28	RETINITIS PIGMENTOSA 28	225281IE
3047803730.0	NEURONAL CEROID LIPOFUSCINOSIS, CLN6	NEURONCERLIP	NEURONAL CEROID LIPOFUSCINOSIS, CLN6	225281GR
3047803628.0	MUCOLIPIDOSIS II/IIIA	MUCOLIPID	MUCOLIPIDOSIS II/IIIA	225281FY
3047802629.0	GLYCINE ENCEPHALOPATHY, AMT-RELATED	GLYENCEAMTRE	GLYCINE ENCEPHALOPATHY, AMT-RELATED	225281DI
3047801217.0	AUTISM SPECTRUM, EPILEPSY AND ARTHROGRYP	AUTISMSPEC	AUTISM SPECTRUM, EPILEPSY AND ARTHROGRYP	225281AC
3047805391.0	ATAXIA-TELANGIECTASIA	ATAXIATELAN	ATAXIA-TELANGIECTASIA	225281AB
3047805225.0	VERY LONG CHAIN ACYL-COA DEHYDROGENASE	VERYLONG	VERY LONG CHAIN ACYL-COA DEHYDROGENASE	225281JE
3047803537.0	MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC	MITOMYOSID	MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC	225281FX
3047804530.0	RENAL TUBULAR ACIDOSIS AND DEAFNESS	RENTUAC	RENAL TUBULAR ACIDOSIS AND DEAFNESS	225281IB
3047803286.0	LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2A	MUSCDYST2A	LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2A	225281EW
3047803641.0	MUCOPOLYSACCHARIDOSIS, TYPE IIID	MUCOPOLYSAC	MUCOPOLYSACCHARIDOSIS, TYPE IIID	225281GG
3047803246.0	LEBER CONGENITAL AMAUROSIS 2	LEBER	LEBER CONGENITAL AMAUROSIS 2	225281EP
3047803639.0	MUCOPOLYSACCHARIDOSIS, TYPE IIIB	MUCOPOLYSAC	MUCOPOLYSACCHARIDOSIS, TYPE IIIB	225281GE
3047804565.0	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA 1	RHCHPUTY1	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA 1	225281IG
3047805657.0	HORIZON 274 CARRIER SCREEN SPINAL MUSCULAR ATROPHY	SMA	SMA, ATROPHY	225281IS
3047803506.0	METHYLMALONIC ACIDURIA, MMAB-RELATED	METHYLACID	METHYLMALONIC ACIDURIA, MMAB-RELATED	225281FR
3047801643.0	CARNITINE PALMITOYLTRANSFERASE IA DEF	CPTDEF	CARNITINE PALMITOYLTRANSFERASE IA DEF	225281AS
3047801976.0	CONGENITAL MYASTHENIC SYNDROME, RAPSN-RE	CONMYASYNRA	CONGENITAL MYASTHENIC SYNDROME, RAPSN-RE	225281BT
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
3047805395.0	BARDET-BIEDL SYNDROME, BBS12-RELATED	BBS12	BARDET-BIEDL SYNDROME, BBS12-RELATED	225281AH
3047805541.0	ISOVALERIC ACIDEMIA	ISOVALERIC	ISOVALERIC ACIDEMIA	225281EK
3047804257.0	PRIMARY HYPEROXALURIA, TYPE 2	PRHYTY2	PRIMARY HYPEROXALURIA, TYPE 2	225281HS
3047802740.0	HEMOCHROMATOSIS, TYPE 2A	NTRAHEMT2A	HEMOCHROMATOSIS, TYPE 2A	225281DT
3047803642.0	MUCOPOLYSACCHARIDOSIS, TYPE IVB	MUCOPOLYSAC	MUCOPOLYSACCHARIDOSIS, TYPE IVB	225281GH
3047801974.0	CONGENITAL INSENSIVITY TO PAIN WITH ANHI	CONGINSPWA	CONGENITAL INSENSIVITY TO PAIN WITH ANHI	225281BR
3047802001.0	COSTEFF SYNDROME	COSTEFFSYN	COSTEFF SYNDROME	225281BY
3047802414.0	FAMILIAL NEUROPOPHYSEAL DIABETES INSIPID	NEURDIAINFAM	FAMILIAL NEUROPOPHYSEAL DIABETES INSIPID	225281CV
3047800782.0	3-BETA-HYDROXYSTEROID DEHYDROGENASE II	3BETAHYDDEH	3-BETA-HYDROXYSTEROID DEHYDROGENASE TYPE II DEFICIENCY	225281A
3047805441.0	CONGENITAL FINNISH NEPHROSIS	CONGFINNISH	CONGENITAL FINNISH NEPHROSIS	225281BQ
3047805189.0	USHER SYNDROME, TYPE 1F	USHT1F	USHER SYNDROME, TYPE 1F	225281JB
3047804682.0	SEGAWA SYNDROME, TH-RELATED	SEGSYND	SEGAWA SYNDROME, TH-RELATED	225281IN
3047805526.0	INCLUSION BODY MYOPATHY 2	IBM2	INCLUSION BODY MYOPATHY 2	225281EI
3047805518.0	HOLOCARBOXYLASE SYNTHETASE DEFICIENCY	HSD	HOLOCARBOXYLASE SYNTHETASE DEFICIENCY	225281DZ
3047803288.0	LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2C	MUSCDYST2C	LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2C	225281EY
3047805597.0	ORNITHINE TRANSCARBAMYLASE DEFICIENCY	OTD	OTD, DEFICIENCY	225281HF
3047804394.0	PYRUVATE DEHYDROGENASE DEFICIENCY X-LINK	PYDEHDEFX	PYRUVATE DEHYDROGENASE DEFICIENCY X-LINK	225281IA
3047805659.0	SPONDYLOTHORACIC DYSOSTOSIS	SPONDDYS	SPONDDYS, DYSOSTOSIS	225281IT
3047804556.0	RETINITIS PIGMENTOSA 25	RETPIG25	RETINITIS PIGMENTOSA 25	225281IC
3047805191.0	USHER SYNDROME, TYPE 3	USHT3	USHER SYNDROME, TYPE 3	225281JD
3047801977.0	CONGENITAL NEUTROPENIA, HAX1-RELATED	CONGNEUHAX	CONGENITAL NEUTROPENIA, HAX1-RELATED	225281BU
3047803417.0	MECKEL-GRUBER SYNDROME, TYPE 1	MECGRUB	MECKEL-GRUBER SYNDROME, TYPE 1	225281FJ
3047801931.0	COMBINED MALONIC AND METHYLMALONIC ACIDU	CMMA	COMBINED MALONIC AND METHYLMALONIC ACIDU	225281BH
3047803505.0	METHYLMALONIC ACIDURIA, MMAA-RELATED	METHYLACID	METHYLMALONIC ACIDURIA, MMAA-RELATED	225281FQ
3047802774.0	HEREDITARY SPASTIC PARAPARESIS, TYPE 49	NTRAHSPT49	HEREDITARY SPASTIC PARAPARESIS, TYPE 49	225281DW
3047803446.0	METACHROMATIC LEUKODYSTROPHY, PSAP	METALEUKO	METACHROMATIC LEUKODYSTROPHY, PSAP	225281FN
3047801794.0	CHRONIC GRANULOMATOUS DISEASE, CYBA-REL	CGD	CHRONIC GRANULOMATOUS DISEASE, CYBA-REL	225281BB
3047804716.0	SEVERE COMBINED IMMUNODEFICIENCY, TYPE A	SEVIMMTYA	SEVERE COMBINED IMMUNODEFICIENCY, TYPE A	225281IP
3047803656.0	MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATE	MUSEYEDIS	MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATE	225281GL
3047802675.0	GUANIDINOACETATE METHYLTRANSFERASE DEFIC	NTRAGUANIDIN	GUANIDINOACETATE METHYLTRANSFERASE DEFIC	225281DS
3047805328.0	ZELLWEGER SPECTRUM DISORDERS, PEX10-RELA	ZELLWEGE	ZELLWEGER SPECTRUM DISORDERS, PEX10-RELA	225281JN
3047803638.0	MUCOPOLYSACCHARIDOSIS, TYPE IIIA	MUCOPOLYSAC	MUCOPOLYSACCHARIDOSIS, TYPE IIIA	225281GD
3047805418.0	CARTILAGE-HAIR HYPOPLASIA	CARTHYPO	CARTILAGE-HAIR HYPOPLASIA	225281AV
3047801967.0	CONGENITAL DISORDER OF GLYCOSYLATION 1A	CONDOGLYC1A	CONGENITAL DISORDER OF GLYCOSYLATION 1A	225281BN
3047801780.0	CHOREOACANTHOCYTOSIS	CHOREOACAN	CHOREOACANTHOCYTOSIS	225281AZ
3047805331.0	ZELLWEGER SPECTRUM DISORDERS, PEX6-RELAT	ZELLWEGE	ZELLWEGER SPECTRUM DISORDERS, PEX6-RELAT	225281JM
3047802281.0	EHLERS-DANLOS SYNDROME, TYPE VIIC	EHLDANSYNT93	EHLERS-DANLOS SYNDROME, TYPE VIIC	225281CI
3047804208.0	POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL REC	POLYCYSKID	POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL REC	225281HK
3047802636.0	GLYCOGEN STORAGE DISEASE, TYPE 1B	GLYCSD1B	GLYCOGEN STORAGE DISEASE, TYPE 1B	225281DL
3047803502.0	METHYLMALONIC ACIDURIA AND HOMOCYST CBIC	METHYLACID	METHYLMALONIC ACIDURIA AND HOMOCYST CBIC	225281FO
3047805393.0	BARDET-BIEDL SYNDROME, BBS10-RELATED	BBS10	BARDET-BIEDL SYNDROME, BBS10-RELATED	225281AG
3047803644.0	MUCOPOLYSACCHARIDOSIS, TYPE VI	MUCOPOLYSAC	MUCOPOLYSACCHARIDOSIS, TYPE VI	225281GI
3047804538.0	REPORT SUMMARY	REPRTSUM	REPORT SUMMARY	225043A
3047801812.0	CITRULLINEMIA, TYPE 1	CITRULLINEMI	CITRULLINEMIA, TYPE 1	225281BF
3047802420.0	FANCONI ANEMIA, GROUP G	FANCONIANGRG	FANCONI ANEMIA, GROUP G	225281CY
3047803051.0	INFANTILE CEREBRAL AND CEREBELLAR ATROPH	CEREBRAL	INFANTILE CEREBRAL AND CEREBELLAR ATROPH	225281EJ
3047801978.0	CONGENITAL NEUTROPENIA, VPS45-RELATED	CONGNEUTRVP	CONGENITAL NEUTROPENIA, VPS45-RELATED	225281BV
3047805550.0	LIPOAMIDE DEHYDROGENASE DEFICIENCY	LDD	LIPOAMIDE DEHYDROGENASE DEFICIENCY	225281FC
3047802637.0	GLYCOGEN STORAGE DISEASE, TYPE 2	NTRAGSDT2	GLYCOGEN STORAGE DISEASE, TYPE 2	225281DM
3047804213.0	PONTOCEREBELLAR HYPOPLASIA, TYPE 1A	PONTYPE1A	PONTOCEREBELLAR HYPOPLASIA, TYPE 1A	225281HM
3047805522.0	HYDROLETHALUS SYNDROME	HYDROSYN	HYDROLETHALUS SYNDROME	225281ED
3047803534.0	MITOCHONDRIAL COMPLEX 1 DEFIC ACAD9	MITOCHCOM	MITOCHONDRIAL COMPLEX 1 DEFIC ACAD9	225281II
3047801975.0	CONGENITAL MYASTHENIC SYNDROME, CHRNE	CONGMYASNCH	CONGENITAL MYASTHENIC SYNDROME, CHRNE	225281BS
3047800964.0	ALPORT SYNDROME, X-LINKED	ALPORTSY	ALPORT SYNDROME, X-LINKED	225281T
3047803536.0	MITOCHONDRIAL COMPLEX 1 DEFIC NDUFS6	MITOCHONCOM	MITOCHONDRIAL COMPLEX 1 DEFIC NDUFS6	225281FV
3047801645.0	CARNITINE PALMITOYLTRANSFERASE II DEF	CPTDEF	CARNITINE PALMITOYLTRANSFERASE II DEF	225281AT
3047800900.0	AICARDI-GOUTIÃˆRES SYNDROME	AICGOUTSYN	NTRA AICARDI-GOUTIÃˆRES SYNDROME	225281N
3047806892.0	ACYL-COA OXIDASE I DEFICIENCY	ACYLCOAOX	ACYL-COA OXIDASE I DEFICIENCY	225281L
3047801641.0	CARNITINE DEFICIENCY	CARNITINE	CARNITINE DEFICIENCY	225281AR
3047803696.0	N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY	NACETGLUTSYN	N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY	225281GO
3047805645.0	SANDHOFF DISEASE	SANDHOFF	SANDHOFF, DISEASE	225281IL
3047800849.0	ACRODERMATITIS ENTEROPATHICA	ACRODERMENTE	ACRODERMATITIS ENTEROPATHICA	225281J
3047801973.0	CONGENITAL HYPERINSULINISM	CONHYPINS	CONGENITAL HYPERINSULINISM	225281EE
3047802590.0	GITELMAN SYNDROME	NTRAGITELSYN	GITELMAN SYNDROME	225281DE
3047800804.0	6-PYRUVOYL-TETRAHYDROPTERIN SYNTHASE	6PYRUTETASY	6-PYRUVOYL-TETRAHYDROPTERIN SYNTHASE	225281F
3047803427.0	MENKES SYNDROME	MENKES	MENKES SYNDROME	225281HB
3047802419.0	FANCONI ANEMIA, GROUP C	FANCONIANGRC	FANCONI ANEMIA, GROUP C	225281CX
3047802741.0	HEMOCHROMATOSIS, TYPE 3, TFR2-RELATED	NTRAHEMT3	HEMOCHROMATOSIS, TYPE 3, TFR2-RELATED	225281DU
3047805501.0	GALACTOKINASE DEFICIENCY	GALACTODEF	GALACTOKINASE DEFICIENCY	225281DB
3047803399.0	MAPLE SYRUP URINE DISEASE, TYPE 1B	MAPLEUR	MAPLE SYRUP URINE DISEASE, TYPE 1B	225281FI
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	225281GY
3047805505.0	GAUCHER DISEASE	GAUCHER	GAUCHER DISEASE	225281DD
3047801993.0	CORTICOSTERONE METHYLOXIDASE DEFICIENCY	CORTMETHDEF	CORTICOSTERONE METHYLOXIDASE DEFICIENCY	225281BX
3047803212.0	LAMELLAR ICHTHYOSIS, TYPE 1	LAMELLAR	LAMELLAR ICHTHYOSIS, TYPE 1	225281EO
3047802622.0	GLUTARIC ACIDEMIA, TYPE 2A	NTRAGLUTYP2A	GLUTARIC ACIDEMIA, TYPE 2A	225281DF
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
3047804099.0	PITUITARY HORMONE DEFICIENCY, COMBINED 3	PITUITARY	PITUITARY HORMONE DEFICIENCY, COMBINED 3	225281HJ
3047802307.0	ENHANCED S-CONE SYNDROME	ENHASCONSY	ENHANCED S-CONE SYNDROME	225281CL
3047802242.0	DUCHENNE/BECKER MUSCULAR DYSTROPHY	DUCHBECKMD	DUCHENNE/BECKER MUSCULAR DYSTROPHY	225281CF
3047800786.0	3-PHOSPHOGLYCERATE DEHYDROGENASE DEFICIE	3PHOSPHODD	3-PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY	225281E
3047802978.0	HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCIT	HHHSYNDR	HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCIT	225281EF
3047802897.0	HOMOCYSTINURIA DUE TO DEFIC OF MTHFR	HOMOCYSURD	HOMOCYSTINURIA DUE TO DEFIC OF MTHFR	225281EB
3047805649.0	SJOGREN-LARSSON SYNDROME	SJOG	SJOG, SYNDROME	225281IQ
3047804715.0	SEVERE COMBINED IMMUNODEFICIENCY ADA-REL	SEVIMMAD	SEVERE COMBINED IMMUNODEFICIENCY ADA-REL	225281IO
3047805399.0	BARDET-BIEDL SYNDROME, BBS2-RELATED	BBS2	BARDET-BIEDL SYNDROME, BBS2-RELATED	225281AF
3047802899.0	HOMOCYSTINURIA, TYPE CBLE	NTRAHOMOCYS	HOMOCYSTINURIA, TYPE CBLE	225281EC
3047802641.0	GLYCOGEN STORAGE DISEASE, TYPE 7	NTRAGSDT7	GLYCOGEN STORAGE DISEASE, TYPE 7	225281DQ
3047800783.0	3-HYDROXY-3-METHYLGLUTARYL-COA LYASE DEF	3HYDRO3METH	3-HYDROXY-3-METHYLGLUTARYL-COA LYASE DEFICIENCY	225281B
3047801382.0	BILATERAL FRONTOPARIETAL POLYMICROGYRIA	BILATFRONT	BILATERAL FRONTOPARIETAL POLYMICROGYRIA	225281AM
3047804913.0	TAY-SACHS DISEASE	TAYSACHSDIS	TAY-SACHS DISEASE	225281IW
3047805432.0	COHEN SYNDROME	COHENSYN	COHEN SYNDROME	225281BG
3047802778.0	HERMANSKY-PUDLAK SYNDROME, HPS1-RELATED	NTRAHERMANSK	HERMANSKY-PUDLAK SYNDROME, HPS1-RELATED	225281DX
3047805190.0	USHER SYNDROME, TYPE 2A	USHT2A	USHER SYNDROME, TYPE 2A	225281JC
3047803305.0	LIPOPROTEIN LIPASE DEFICIENCY	LIPOPROT	LIPOPROTEIN LIPASE DEFICIENCY	225281FE
3047805330.0	ZELLWEGER SPECTRUM DISORDERS, PEX2-RELAT	ZELLWEGE	ZELLWEGER SPECTRUM DISORDERS, PEX2-RELAT	225281JL
3047801369.0	BETA-HEMOGLOBINOPATHIES	BHEMOGLOB	BETA-HEMOGLOBINOPATHIES	225281AL
3047805513.0	HEREDITARY FRUCTOSE INTOLERANCE	HEREDFRUC	HEREDITARY FRUCTOSE INTOLERANCE	225281DV
3047803894.0	OSTEOPETROSIS, INFANTILE MALIGNANT	OSTPETROSIS	OSTEOPETROSIS, INFANTILE MALIGNANT	225281HG
3047801220.0	AUTOIMMUNE POLYGLANDULAR SYNDROME	AUTOPOLYSYN	AUTOIMMUNE POLYGLANDULAR SYNDROME	225281HL
3047805148.0	TYROSINEMIA, TYPE I	TYROTY1	TYROSINEMIA, TYPE I	225281IX
3047801310.0	BARTTER SYNDROME	BARTTER	BARTTER SYNDROME	225281AJ
3047804256.0	PRIMARY HYPEROXALURIA, TYPE 1	PRHYTY1	PRIMARY HYPEROXALURIA, TYPE 1	225281HR
3047805186.0	USHER SYNDROME, TYPE 1B	USHT1B	USHER SYNDROME, TYPE 1B	225281IY
3047802247.0	DYSKERATOSIS CONGENITA	DYSKERCONG	DYSKERATOSIS CONGENITA	225281CG
3047802411.0	FAMILIAL HYPERCHOLESTEROLEMIA, LDLR	HYPCHFALDLR	FAMILIAL HYPERCHOLESTEROLEMIA, LDLR	225281CR
3047803631.0	MUCOLIPIDOSIS, TYPE IV	MUCOLIPID	MUCOLIPIDOSIS, TYPE IV	225281GA
3047805476.0	FACTOR XI DEFICIENCY	FACTORXI	FACTOR XI DEFICIENCY	225281CP
3047803301.0	LIPOID ADRENAL HYPERPLASIA	LIPADRHYPER	LIPOID ADRENAL HYPERPLASIA	225281FD
3047803729.0	NEURONAL CEROID LIPOFUSCINOSIS, CLN5	NEURONCERLIP	NEURONAL CEROID LIPOFUSCINOSIS, CLN5	225281GQ
3047805694.0	WILSON DISEASE	WILSONDIS	WILSONDIS, DISEASE	225281JG
3047802112.0	DEAFNESS, AUTOSOMAL RECESSIVE 77	DEAFAUTORE77	DEAFNESS, AUTOSOMAL RECESSIVE 77	225281CE
3047802638.0	GLYCOGEN STORAGE DISEASE, TYPE 3	NTRAGSDT3	GLYCOGEN STORAGE DISEASE, TYPE 3	225281DN
3047801177.0	AROMATASE DEFICIENCY	AROMADEF	AROMATASE DEFICIENCY	225281X
3047802984.0	HYPOPHOSPHATASIA, ALPL-RELATED	HYPOPHOSALPL	HYPOPHOSPHATASIA, ALPL-RELATED	225281EH
3047805623.0	PYCNODYSOSTOSIS	PYCNODY	PYCNODY, PYCNODYSOSTOSIS	225281HY
3047803266.0	LETHAL CONGENITAL CONTRACTURE SYNDROME 1	LCCS	LETHAL CONGENITAL CONTRACTURE SYNDROME 1	225281EU
3047805495.0	NATERA FOOTNOTES	FOOTNOTES	NATERA FOOTNOTES	225043D
3047805609.0	PDF REPORT	PDF	PDF, REPORT	225043E
3047805612.0	PENDRED SYNDROME	PENDREDSYN	PENDREDSYN, SYNDROME	225281HH
3047803535.0	MITOCHONDRIAL COMPLEX 1 DEFIC NDUFAF5	MITOCHONCOM	MITOCHONDRIAL COMPLEX 1 DEFIC NDUFAF5	225281FU
3047804214.0	PONTOCEREBELLAR HYPOPLASIA, TYPE 2D	PONTYPE2D	PONTOCEREBELLAR HYPOPLASIA, TYPE 2D	225281HU
3047804258.0	PRIMARY HYPEROXALURIA, TYPE 3	PRHYTY3	PRIMARY HYPEROXALURIA, TYPE 3	225281HT
3047805546.0	KRABBE DISEASE	KRABBE	KRABBE DISEASE	225281EN
3047805643.0	SALLA DISEASE	SALLADIS	SALLADIS, DISEASE	225281IK
3047803421.0	MEGALENCEPHALIC LEUKOENCEPHALOPATHY	MEGLEUKENCE	MEGALENCEPHALIC LEUKOENCEPHALOPATHY	225281FL
3047805363.0	ABETALIPOPROTEINEMIA	ABETALIPO	ABETALIPOPROTEINEMIA	225281G
3047805543.0	JOUBERT SYNDROME 2	JOUBERTSY2	JOUBERT SYNDROME 2	225281EL
3047801174.0	ARGININOSUCCINATE LYASE DEFICIENCY	ARGININOSULD	ARGININOSUCCINATE LYASE DEFICIENCY	225281W
3047801966.0	CONGENITAL AMEGAKARYOCYTIC THROMBOCYTOPE	CONGAMETRHO	CONGENITAL AMEGAKARYOCYTIC THROMBOCYTOPE	225281BM
3047805290.0	WOLMAN DISEASE	WOLDIS	WOLMAN DISEASE	225281JH
3047803747.0	NIEMANN-PICK DISEASE, TYPES A/B	NIEMPICKAB	NIEMANN-PICK DISEASE, TYPES A/B	225281GW
3047803249.0	LEBER CONGENITAL AMAUROSIS, TYPE RDH12	LERDH12	LEBER CONGENITAL AMAUROSIS, TYPE RDH12	225281ES
3047804868.0	STUVE-WIEDEMANN SYNDROME	STUVEWIE	STUVE-WIEDEMANN SYNDROME	225281IV
3047801370.0	BETA-KETOTHIOLASE DEFICIENCY	BKETODEF	BETA-KETOTHIOLASE DEFICIENCY	225281EM
3047804212.0	PONTOCEREBELLAR HYPOPLASIA, RARS2-RELATE	PONRARS2	PONTOCEREBELLAR HYPOPLASIA, RARS2-RELATE	225281HN
3047802639.0	GLYCOGEN STORAGE DISEASE, TYPE 4	NTRAGSDT4	GLYCOGEN STORAGE DISEASE, TYPE 4	225281DO
3047803734.0	NEURONAL CEROID LIPOFUSCINOSIS, TPP1-REL	NEURONCERLIP	NEURONAL CEROID LIPOFUSCINOSIS, TPP1-REL	225281GV
3047803886.0	ORNITHINE AMINOTRANSFERASE DEFICIENCY	ORNITHAMDEF	ORNITHINE AMINOTRANSFERASE DEFICIENCY	225281HE
3047805404.0	BIOTINIDASE DEFICIENCY	BIOTINIDASE	BIOTINIDASE DEFICIENCY	225281AN
3047803848.0	ODONTO-ONYCHO-DERMAL DYSPLASIA	ONONDERDYS	ODONTO-ONYCHO-DERMAL DYSPLASIA	225281HC
3047804251.0	PRIMARY CILIARY DYSKINESIA DNAI1-RELATED	CILDNAH1	PRIMARY CILIARY DYSKINESIA DNAI1-RELATED	225281HP
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
3047802630.0	GLYCINE ENCEPHALOPATHY, GLDC-REL	GLYENCGLDCRE	GLYCINE ENCEPHALOPATHY, GLDC-REL	225281DJ
3047802766.0	HEPATOCEREBRAL MITOCHONDRIAL DNA DEPLETI	NTRAMITOCHON	HEPATOCEREBRAL MITOCHONDRIAL DNA DEPLETI	225281FW
3047804566.0	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA 3	RHCHPUTY3	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA 3	225281IH
3047803650.0	MULTIPLE SULPHATASE DEFICIENCY	MULTSUPHDEF	MULTIPLE SULPHATASE DEFICIENCY	225281GK
3047803643.0	MUCOPOLYSACCHARIDOSIS, TYPE IX	MUCOPOLYSAC	MUCOPOLYSACCHARIDOSIS, TYPE IX	225281GJ
3047801795.0	CHRONIC GRANULOMATOUS DISEASE, X-LINKED	CGD	CHRONIC GRANULOMATOUS DISEASE, X-LINKED	225281BC
3047802527.0	FUMARASE DEFICIENCY	FUMARASEDEF	FUMARASE DEFICIENCY	225281DA
3047803731.0	NEURONAL CEROID LIPOFUSCINOSIS, CLN8	NEURONCERLIP	NEURONAL CEROID LIPOFUSCINOSIS, CLN8	225281GS
3047803289.0	LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2D	MUSCDYST2D	LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2D	225281EZ
3047803636.0	MUCOPOLYSACCHARIDOSIS, TYPE I	MUCOPOLYSAC	MUCOPOLYSACCHARIDOSIS, TYPE I	225281GB
3047805407.0	HORIZON 274 CARRIER SCREEN BLOOM SYNDROME	HORBLOOMSYN	HORIZON 274 CARRIER SCREEN BLOOM SYNDROME	225281AO
3047804077.0	PHENYLKETONURIA	PHENYLKE	PHENYLKETONURIA	225281HI
3047802898.0	HOMOCYSTINURIA, CBS-RELATED	HOMOCBSRE	HOMOCYSTINURIA, CBS-RELATED	225281EA
3047804250.0	PRIMARY CILIARY DYSKINESIA DNAH5-RELATED	CILDNAH5	PRIMARY CILIARY DYSKINESIA DNAH5-RELATED	225281HO
3047805483.0	FAMILIAL MEDITERRANEAN FEVER	FAMMED	FAMILIAL MEDITERRANEAN FEVER	225281CU
3047803271.0	LEUKOENCEPHALOPATHY WITH VANISHING WHITE	LEUKOENCEPH	LEUKOENCEPHALOPATHY WITH VANISHING WHITE	225281EV
3047803507.0	METHYLMALONIC ACIDURIA, TYPE MUT(0)	METHYLACID	METHYLMALONIC ACIDURIA, TYPE MUT(0)	225281FS
3047802412.0	FAMILIAL HYPERCHOLESTEROLEMIA, LDLRAP1	HYPCHFALDLRA	FAMILIAL HYPERCHOLESTEROLEMIA, LDLRAP1	225281CS
3047804557.0	RETINITIS PIGMENTOSA 26	RETPIG26	RETINITIS PIGMENTOSA 26	225281ID
3047802983.0	HYPOHIDROTIC ECTODERMAL DYSPLASIA X-LINK	HYPOHIDR	HYPOHIDROTIC ECTODERMAL DYSPLASIA X-LINK	225281EG
3047801731.0	CHARCOT-MARIE-TOOTH DISEASE WITH DEAFNES	CHARCOTMARIE	CHARCOT-MARIE-TOOTH DISEASE WITH DEAFNES	225281AX
3047801224.0	AUTOSOMAL RECESSIVE SPASTIC ATAXIA OF CH	AUTORSAC	AUTOSOMAL RECESSIVE SPASTIC ATAXIA OF CH	225281AD
3047802248.0	DYSTROPHIC EPIDERMOLYSIS BULLOSA	DYSTEPICBU	DYSTROPHIC EPIDERMOLYSIS BULLOSA	225281CH
3047805474.0	FABRY DISEASE	FABRY	FABRY DISEASE	225281CN
3047805371.0	ALPHA-MANNOSIDOSIS	AMANNOSID	ALPHA-MANNOSIDOSIS	225281O
3047800784.0	3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFIC	3METHCOACAR1	3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY	225281C
3047800891.0	ADRENOLEUKODYSTROPHY	ADRENOLEUK	ADRENOLEUKODYSTROPHY	225281M
3047805187.0	USHER SYNDROME, TYPE 1C	USHT1C	USHER SYNDROME, TYPE 1C	225281IZ
3047803247.0	LEBER CONGENITAL AMAUROSIS, TYPE CEP290	LECEP290	LEBER CONGENITAL AMAUROSIS, TYPE CEP290	225281EQ
3047805375.0	ALSTROM SYNDROME	ALSTROM	ALSTROM SYNDROME	225281U
3047805481.0	HORIZON 274 CARRIER SCREEN FAMILIAL HYPERINSULINISM	FAMHYPER	HORIZON 274 CARRIER SCREEN FAMILIAL HYPERINSULINISM	225281CT
3047803290.0	LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2E	MUSCDYST2E	LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2E	225281FA
3047805584.0	NIJMEGEN BREAKAGE SYNDROME	NIJMEGEN	NIJMEGEN, SYNDROME	225281GZ
3047800852.0	ACUTE INFANTILE LIVER FAILURE	ACINFLIVFAIL	ACUTE INFANTILE LIVER FAILURE	225281K
3047802020.0	CREATINE TRANSPORTER DEFECT	CREATTRANDE	CREATINE TRANSPORTER DEFECT	225281CA
3047803163.0	JUVENILE RETINOSCHISIS, X-LINKED	RETINOSCH	JUVENILE RETINOSCHISIS, X-LINKED	225281JI
3047804282.0	PROPIONIC ACIDEMIA, PCCB-RELATED	PCCBPROACI	PROPIONIC ACIDEMIA, PCCB-RELATED	225281HX
3047804252.0	PRIMARY CILIARY DYSKINESIA DNAI2-RELATED	CILDNAH2	PRIMARY CILIARY DYSKINESIA DNAI2-RELATED	225281HQ
3047801933.0	COMBINED OXIDATIVE PHOSPHORYLATION DEF 1	COMBOXIPHD1	COMBINED OXIDATIVE PHOSPHORYLATION DEF 1	225281BJ
3047805651.0	SMITH-LEMLI-OPITZ SYNDROME	SLOS	SLOS, SYNDROME	225281IR
3047805425.0	CHOROIDEREMIA	CHOROIDEREM	CHOROIDEREMIA	225281BA
3047801651.0	CARPENTER SYNDROME	CARPENTERSYN	CARPENTER SYNDROME	225281AU
3047805420.0	CEREBROTENDINOUS XANTHOMATOSIS	CERBROTEND	CEREBROTENDINOUS XANTHOMATOSIS	225281AW
3047803248.0	LEBER CONGENITAL AMAUROSIS, TYPE LCA5	LELCA5	LEBER CONGENITAL AMAUROSIS, TYPE LCA5	225281ER
3047804587.0	ROBERTS SYNDROME	ROBSYN	ROBERTS SYNDROME	225281IJ
3047801969.0	CONGENITAL DISORDER OF GLYCOSYLATION 1C	CONDOGLYC1C	CONGENITAL DISORDER OF GLYCOSYLATION 1C	225281BP
3047803691.0	MYONEUROGASTROINTESTINAL ENCEPHALOPATHY	MYPGASINTENC	MYONEUROGASTROINTESTINAL ENCEPHALOPATHY	225281GM
3047803732.0	NEURONAL CEROID LIPOFUSCINOSIS, MFSD8	NEURONCERLIP	NEURONAL CEROID LIPOFUSCINOSIS, MFSD8	225281GT

EPIC Test Compendium Alpha Welcome to the new Northwell Health Labs Test Directory, please call our Client Services Department at 1-800-472-5757 with any typos, corrections or issues.

Search

Horizon 274 Carrier Screen (Pan-Ethnic Panel)

Test Catalog Information

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

Actual Epic build

EPIC Test Compendium Alpha
Welcome to the new Northwell Health Labs Test Directory, please call our Client Services Department at 1-800-472-5757 with any typos, corrections or issues.