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Horizon 274 Carrier Screen (Pan-Ethnic Panel) Epic Compendium  

▶ Desired Epic Build * = editable field  

Actual Epic Build 11/20/2025

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 3BETAHYDDEH
3HYDRO3METH
3METHCOACAR1
3METHCOACAR2
3PHOSPHODD
6PYRUTETASY
ABETALIPO
ACHONDROG1B
ACHROMATOP
ACINFLIVFAIL
ACRODERMENTE
ACYLCOA
ACYLCOAOX
ADRENOLEUK
AICGOUTSYN
ALPORTSY
ALSTROM
AMANNOSID
ANDERMANN
ARGININOSULD
AROMADEF
ASPARAGINESD
ASPARTYLGLYO
ATAXIATELAN
ATAXIAVITE
ATHALASS
ATHALASSINTD
AUTISMSPEC
AUTOPOLYSYN
AUTORSAC
BARELYMPH
BARTTER
BATTEN
BBS1
BBS10
BBS12
BBS2
BHEMOGLOB
BILATFRONT
BIOTINIDASE
BKETODEF
CANAVAN
CARNITINEDEF
CARPENTERSYN
CARTHYPO
CERBROTEND
CEREBRAL
CGD
CHARCOTMARIE
CHOREOACAN
CHOROIDEREM
CILLOPATH
CITRINDEF
CITRULLINEMI
CMMA
COHENSYN
COMBOXIPHD1
COMBOXIPHD3
COMBPITHOD2
CONDOGLYC1A
CONDOGLYC1B
CONDOGLYC1C
CONGADNHY17A
CONGAMETRHO
CONGFINNISH
CONGINSPWA
CONGMYASNCH
CONGNEUHAX
CONGNEUTRVP
CONHYPINS
CONMYASYNRA
CORNDYSPERDF
CORTMETHDEF
COSTEFFSYN
CPSDEF
CPTDEF1A
CPTDEF2
CRB1RERETDY
CREATTRANDE
CYSTICFIB
CYSTINOSIS
DBIFUNCPROT
DEAFAUTORE77
DUCHBECKMD
DYSKERCONG
DYSTEPICBU
EHLDANSYNT93
ELLISVANCSYN
EMERYDMD
ENHASCONSY
ETHYLMALENC
FABRY
FACTORIXDEF
FACTORXI
FAMDYSA
FAMHYPER
FAMMED
FANCONIANGRA
FANCONIANGRC
FANCONIANGRG
FOOTNOTES
FRAGILEX
FUMARASEDEF
GALACTODEF
GALACTOSEMIA
GAUCHER
GLYCSD1A
GLYCSD1B
GLYENCEAMTRE
GLYENCGLDCRE
GRACILE
HEREDFRUC
HHHSYNDR
HOMOCBSRE
HOMOCYSURD
HORBLOOMSYN
HSD
HYDROSYN
HYPCHFALDLR
HYPCHFALDLRA
HYPOHIDR
HYPOPHOSALPL
IBM2
ISOVALERIC
JOUBERTSY2
KRABBE
LAMELLAR
LCCS
LDD
LEBER
LECEP290
LEIGHSYN
LELCA5
LERDH12
LEUKOENCEPH
LIPADRHYPER
LIPOPROT
LONGCHAIN3
LYSINURIC
MAPLEUR1A
MAPLEUR1B
MEACHOCBLC
MECGRUB
MEGLEUKENCE
MENKES
METALEUKO
METHYLABID
METHYLMMAA
METHYLMMAB
METHYLTM0
MICROPHANO
MITOCHCOM
MITOCHONCOM
MITOMYOSID
MUCOLIPGAM
MUCOLIPID
MUCOPOLYSA2
MUCOPOLYSA3A
MUCOPOLYSA3B
MUCOPOLYSA3C
MUCOPOLYSA3D
MUCOPOLYSA4B
MUCOPOLYSAC1
MUCOPOLYSAC6
MUCOPOLYSAC9
MULTSUPHDEF
MUSCDYST2A
MUSCDYST2B
MUSCDYST2C
MUSCDYST2D
MUSCDYST2E
MUSCDYST2I
MUSEYEDIS
MYOTUBMYO
MYPGASINTENC
NACETGLUTSYN
NEMALINEMYO
NEURCERLIP5
NEURCERLIP6
NEURCERLIP8
NEURCERLIPD8
NEURCRLIPPT1
NEURCRLITPP1
NEURDIAINFAM
NIEMPICKAB
NIEMPICKC1D
NIEMPICKC2
NIJMEGEN
NONSYNDRHL
NTRAGITELSYN
NTRAGLUCOADE
NTRAGLUTYP2A
NTRAGLUTYP2C
NTRAGSDT2
NTRAGSDT3
NTRAGSDT4
NTRAGSDT5
NTRAGSDT7
NTRAGUANIDIN
NTRAHEMT2A
NTRAHEMT3
NTRAHERMANSK
NTRAHERPUD
NTRAHOMOCYS
NTRAHSPT49
NTRAMITOCHON
OMENSYN
ONONDERDYS
ORNITHAMDEF
OSTPETROSIS
OTD
PANELNOTE
PCCAREPROACI
PCCBPROACI
PCDDNAH5
PCDDNAI1
PCDDNAI2
PDF
PENDREDSYN
PHENYLKE
PITUITARY
POLYCYSKID
PONRARS2
PONTYPE1A
PONTYPE2D
PRHYTY1
PRHYTY2
PRHYTY3
PROFAMINTRA
PYCNODY
PYDEHDEFA
PYDEHDEFX
RENTUAC
REPORTNOTE
REPRTSUM
RETINOSCH
RETPIG25
RETPIG26
RETPIG28
RETPIG59
RHCHPUTY1
RHCHPUTY3
ROBSYN
SALLADIS
SANDHOFF
SCHIMMDYSP
SEGSYND
SEVIMMAD
SEVIMMTYA
SEVIMMXL
SJOG
SLOS
SMA
SPECAPPEAR
SPONDDYS
SRNS
STUVEWIE
TAYSACHSDIS
TYROTY1
USHT1B
USHT1C
USHT1D
USHT1F
USHT2A
USHT3
VERYLONG
WILSONDIS
WOLDIS
WWSYND
ZELLWEGE10
ZELLWEGE2
ZELLWEGE6
OP LAB TEST COMPONENTS FOR REPORT 3BETAHYDDEH
3HYDRO3METH
3METHCOACAR1
3METHCOACAR2
3PHOSPHODD
6PYRUTETASY
ABETALIPO
ACHONDROG1B
ACHROMATOP
ACINFLIVFAIL
ACRODERMENTE
ACYLCOA
ACYLCOAOX
ADRENOLEUK
AICGOUTSYN
ALPORTSY
ALSTROM
AMANNOSID
ANDERMANN
ARGININOSULD
AROMADEF
ASPARAGINESD
ASPARTYLGLYO
ATAXIATELAN
ATAXIAVITE
ATHALASS
ATHALASSINTD
AUTISMSPEC
AUTOPOLYSYN
AUTORSAC
BARELYMPH
BARTTER
BATTEN
BBS1
BBS10
BBS12
BBS2
BHEMOGLOB
BILATFRONT
BIOTINIDASE
BKETODEF
CANAVAN
CARNITINEDEF
CARPENTERSYN
CARTHYPO
CERBROTEND
CEREBRAL
CGD
CHARCOTMARIE
CHOREOACAN
CHOROIDEREM
CILLOPATH
CITRINDEF
CITRULLINEMI
CMMA
COHENSYN
COMBOXIPHD1
COMBOXIPHD3
COMBPITHOD2
CONDOGLYC1A
CONDOGLYC1B
CONDOGLYC1C
CONGADNHY17A
CONGAMETRHO
CONGFINNISH
CONGINSPWA
CONGMYASNCH
CONGNEUHAX
CONGNEUTRVP
CONHYPINS
CONMYASYNRA
CORNDYSPERDF
CORTMETHDEF
COSTEFFSYN
CPSDEF
CPTDEF1A
CPTDEF2
CRB1RERETDY
CREATTRANDE
CYSTICFIB
CYSTINOSIS
DBIFUNCPROT
DEAFAUTORE77
DUCHBECKMD
DYSKERCONG
DYSTEPICBU
EHLDANSYNT93
ELLISVANCSYN
EMERYDMD
ENHASCONSY
ETHYLMALENC
FABRY
FACTORIXDEF
FACTORXI
FAMDYSA
FAMHYPER
FAMMED
FANCONIANGRA
FANCONIANGRC
FANCONIANGRG
FOOTNOTES
FRAGILEX
FUMARASEDEF
GALACTODEF
GALACTOSEMIA
GAUCHER
GLYCSD1A
GLYCSD1B
GLYENCEAMTRE
GLYENCGLDCRE
GRACILE
HEREDFRUC
HHHSYNDR
HOMOCBSRE
HOMOCYSURD
HORBLOOMSYN
HSD
HYDROSYN
HYPCHFALDLR
HYPCHFALDLRA
HYPOHIDR
HYPOPHOSALPL
IBM2
ISOVALERIC
JOUBERTSY2
KRABBE
LAMELLAR
LCCS
LDD
LEBER
LECEP290
LEIGHSYN
LELCA5
LERDH12
LEUKOENCEPH
LIPADRHYPER
LIPOPROT
LONGCHAIN3
LYSINURIC
MAPLEUR1A
MAPLEUR1B
MEACHOCBLC
MECGRUB
MEGLEUKENCE
MENKES
METALEUKO
METHYLABID
METHYLMMAA
METHYLMMAB
METHYLTM0
MICROPHANO
MITOCHCOM
MITOCHONCOM
MITOMYOSID
MUCOLIPGAM
MUCOLIPID
MUCOPOLYSA2
MUCOPOLYSA3A
MUCOPOLYSA3B
MUCOPOLYSA3C
MUCOPOLYSA3D
MUCOPOLYSA4B
MUCOPOLYSAC1
MUCOPOLYSAC6
MUCOPOLYSAC9
MULTSUPHDEF
MUSCDYST2A
MUSCDYST2B
MUSCDYST2C
MUSCDYST2D
MUSCDYST2E
MUSCDYST2I
MUSEYEDIS
MYOTUBMYO
MYPGASINTENC
NACETGLUTSYN
NEMALINEMYO
NEURCERLIP5
NEURCERLIP6
NEURCERLIP8
NEURCERLIPD8
NEURCRLIPPT1
NEURCRLITPP1
NEURDIAINFAM
NIEMPICKAB
NIEMPICKC1D
NIEMPICKC2
NIJMEGEN
NONSYNDRHL
NTRAGITELSYN
NTRAGLUCOADE
NTRAGLUTYP2A
NTRAGLUTYP2C
NTRAGSDT2
NTRAGSDT3
NTRAGSDT4
NTRAGSDT5
NTRAGSDT7
NTRAGUANIDIN
NTRAHEMT2A
NTRAHEMT3
NTRAHERMANSK
NTRAHERPUD
NTRAHOMOCYS
NTRAHSPT49
NTRAMITOCHON
OMENSYN
ONONDERDYS
ORNITHAMDEF
OSTPETROSIS
OTD
PANELNOTE
PCCAREPROACI
PCCBPROACI
PCDDNAH5
PCDDNAI1
PCDDNAI2
PDF
PENDREDSYN
PHENYLKE
PITUITARY
POLYCYSKID
PONRARS2
PONTYPE1A
PONTYPE2D
PRHYTY1
PRHYTY2
PRHYTY3
PROFAMINTRA
PYCNODY
PYDEHDEFA
PYDEHDEFX
RENTUAC
REPORTNOTE
REPRTSUM
RETINOSCH
RETPIG25
RETPIG26
RETPIG28
RETPIG59
RHCHPUTY1
RHCHPUTY3
ROBSYN
SALLADIS
SANDHOFF
SCHIMMDYSP
SEGSYND
SEVIMMAD
SEVIMMTYA
SEVIMMXL
SJOG
SLOS
SMA
SPECAPPEAR
SPONDDYS
SRNS
STUVEWIE
TAYSACHSDIS
TYROTY1
USHT1B
USHT1C
USHT1D
USHT1F
USHT2A
USHT3
VERYLONG
WILSONDIS
WOLDIS
WWSYND
ZELLWEGE10
ZELLWEGE2
ZELLWEGE6
ORDER QUESTIONS ["3045300105", "3046000042", "3045300061", "3045300062"]
ORDER QUESTIONS RECORD NAME NH IP CONSENT ORDER COMMENT
NH IP ETHNICITY
NH IP PAN ETHNIC ACKNOWLEDGEMENT
NH IP PATIENT PREGNANT
INPATIENT ORDER QUESTIONS ["3045300105", "3046000042", "3045300061", "3045300062"]
INPATIENT ORDER QUESTIONS RECORD NAME NH IP CONSENT ORDER COMMENT
NH IP ETHNICITY
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 1
OP ORDERABLE 1
STANDARD LAB COMPONENTS 3047804538
3047803954
3047805629
3047805495
3047805609
3047800782
3047800783
3047800784
3047800785
3047800786
3047800804
3047805363
3047800846
3047805367
3047800849
3047800852
3047806892
3047800891
3047800900
3047805371
3047800961
3047800949
3047800962
3047800963
3047800964
3047805375
3047805383
3047801174
3047801177
3047801196
3047805387
3047805389
3047805391
3047801217
3047801220
3047801224
3047805397
3047805393
3047805395
3047805399
3047801301
3047801310
3047801318
3047801369
3047801370
3047801382
3047805404
3047805407
3047802018
3047805414
3047801623
3047801641
3047801643
3047801645
3047801651
3047805418
3047805420
3047801731
3047801732
3047801780
3047805425
3047801794
3047801795
3047801800
3047801808
3047801812
3047805432
3047801931
3047801933
3047801934
3047801935
3047801965
3047801966
3047801967
3047801968
3047801969
3047805441
3047801973
3047801974
3047801975
3047801976
3047801977
3047801978
3047801991
3047801993
3047802001
3047802020
3047805455
3047805457
3047805459
3047802112
3047802242
3047802247
3047802248
3047802281
3047802295
3047802300
3047802307
3047802366
3047805474
3047802392
3047805476
3047805478
3047802411
3047802412
3047805481
3047805483
3047802414
3047802418
3047802419
3047802420
3047805497
3047802527
3047805509
3047805501
3047805503
3047805505
3047802590
3047802621
3047802622
3047802623
3047802629
3047802630
3047802635
3047802636
3047802637
3047802638
3047802639
3047802640
3047802641
3047802675
3047802740
3047802741
3047802766
3047805513
3047802774
3047802778
3047802779
3047805518
3047802897
3047802898
3047802899
3047805522
3047802978
3047802983
3047802984
3047805526
3047803051
3047805541
3047805543
3047803163
3047805546
3047803212
3047803246
3047803247
3047803248
3047803249
3047805548
3047803266
3047803271
3047803286
3047803287
3047803288
3047803289
3047803290
3047803291
3047805550
3047803301
3047803305
3047805552
3047803362
3047803398
3047803399
3047803417
3047803418
3047803421
3047803427
3047803445
3047803446
3047803502
3047803503
3047803505
3047803506
3047803507
3047803518
3047803534
3047803535
3047803536
3047803537
3047803628
3047805576
3047803631
3047803636
3047803637
3047803638
3047803639
3047803640
3047803641
3047803642
3047803643
3047803644
3047803650
3047803656
3047803691
3047803692
3047803696
3047805581
3047803729
3047803730
3047803731
3047803732
3047803733
3047803734
3047803745
3047803746
3047803747
3047805584
3047803765
3047803848
3047803857
3047803886
3047805597
3047803894
3047805612
3047804077
3047804099
3047804208
3047804212
3047804213
3047804214
3047804250
3047804251
3047804252
3047804256
3047804257
3047804258
3047804266
3047804281
3047804282
3047805623
3047804393
3047804394
3047804530
3047804556
3047804557
3047804558
3047804559
3047804565
3047804566
3047804587
3047805643
3047805645
3047804667
3047804682
3047804715
3047804716
3047804717
3047805649
3047805651
3047805657
3047805659
3047805661
3047804868
3047804913
3047805148
3047805186
3047805187
3047805188
3047805189
3047805190
3047805191
3047805225
3047805689
3047805694
3047805290
3047805329
3047805328
3047805330
3047805331
STANDARD LAB COMPONENTS RECORD NAME REPORT SUMMARY
PANEL NOTES
REPORT NOTES
NATERA FOOTNOTES
PDF REPORT
3-BETA-HYDROXYSTEROID DEHYDROGENASE II
3-HYDROXY-3-METHYLGLUTARYL-COA LYASE DEF
3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFIC
3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFIC
3-PHOSPHOGLYCERATE DEHYDROGENASE DEFICIE
6-PYRUVOYL-TETRAHYDROPTERIN SYNTHASE
ABETALIPOPROTEINEMIA
ACHONDROGENESIS, TYPE 1B
ACHROMATOPSIA
ACRODERMATITIS ENTEROPATHICA
ACUTE INFANTILE LIVER FAILURE
ACYL-COA OXIDASE I DEFICIENCY
ADRENOLEUKODYSTROPHY
AICARDI-GOUTIÈRES SYNDROME
ALPHA-MANNOSIDOSIS
ALPHA-THALASSEMIA
ALPHA THALASSEMIA INTELLECTUAL DIS SYNDR
ALPORT SYNDROME, COL4A3-RELATED
ALPORT SYNDROME, COL4A4-RELATED
ALPORT SYNDROME, X-LINKED
ALSTROM SYNDROME
ANDERMANN SYNDROME
ARGININOSUCCINATE LYASE DEFICIENCY
AROMATASE DEFICIENCY
ASPARAGINE SYNTHETASE DEFICIENCY
ASPARTYLGLYCOSAMINURIA
ATAXIA WITH VITAMIN E DEFICIENCY
ATAXIA-TELANGIECTASIA
AUTISM SPECTRUM, EPILEPSY AND ARTHROGRYP
AUTOIMMUNE POLYGLANDULAR SYNDROME
AUTOSOMAL RECESSIVE SPASTIC ATAXIA OF CH
BARDET-BIEDL SYNDROME, BBS1-RELATED
BARDET-BIEDL SYNDROME, BBS10-RELATED
BARDET-BIEDL SYNDROME, BBS12-RELATED
BARDET-BIEDL SYNDROME, BBS2-RELATED
BARE LYMPHOCYTE SYNDROME, CIITA
BARTTER SYNDROME
BATTEN DISEASE
BETA-HEMOGLOBINOPATHIES
BETA-KETOTHIOLASE DEFICIENCY
BILATERAL FRONTOPARIETAL POLYMICROGYRIA
BIOTINIDASE DEFICIENCY
HORIZON 274 CARRIER SCREEN BLOOM SYNDROME
CRB1-RELATED RETINAL DYSTROPHIES
CANAVAN DISEASE
CARBAMOYL PHOSPHATE SYNTHETASE I DEF
CARNITINE DEFICIENCY
CARNITINE PALMITOYLTRANSFERASE IA DEF
CARNITINE PALMITOYLTRANSFERASE II DEF
CARPENTER SYNDROME
CARTILAGE-HAIR HYPOPLASIA
CEREBROTENDINOUS XANTHOMATOSIS
CHARCOT-MARIE-TOOTH DISEASE WITH DEAFNES
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D
CHOREOACANTHOCYTOSIS
CHOROIDEREMIA
CHRONIC GRANULOMATOUS DISEASE, CYBA-REL
CHRONIC GRANULOMATOUS DISEASE, X-LINKED
CILIOPATHIES, RPGRIP1L-RELATED
CITRIN DEFICIENCY
CITRULLINEMIA, TYPE 1
COHEN SYNDROME
COMBINED MALONIC AND METHYLMALONIC ACIDU
COMBINED OXIDATIVE PHOSPHORYLATION DEF 1
COMBINED OXIDATIVE PHOSPHORYLATION DEF 3
COMBINED PITUITARY HORMONE DEFICIENCY-2
CONGENITAL ADRENAL HYPERPLASIA, 17-ALPHA
CONGENITAL AMEGAKARYOCYTIC THROMBOCYTOPE
CONGENITAL DISORDER OF GLYCOSYLATION 1A
CONGENITAL DISORDER OF GLYCOSYLATION 1B
CONGENITAL DISORDER OF GLYCOSYLATION 1C
CONGENITAL FINNISH NEPHROSIS
CONGENITAL HYPERINSULINISM
CONGENITAL INSENSIVITY TO PAIN WITH ANHI
CONGENITAL MYASTHENIC SYNDROME, CHRNE
CONGENITAL MYASTHENIC SYNDROME, RAPSN-RE
CONGENITAL NEUTROPENIA, HAX1-RELATED
CONGENITAL NEUTROPENIA, VPS45-RELATED
CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNES
CORTICOSTERONE METHYLOXIDASE DEFICIENCY
COSTEFF SYNDROME
CREATINE TRANSPORTER DEFECT
CYSTIC FIBROSIS
CYSTINOSIS
D-BIFUNCTIONAL PROTEIN DEFICIENCY
DEAFNESS, AUTOSOMAL RECESSIVE 77
DUCHENNE/BECKER MUSCULAR DYSTROPHY
DYSKERATOSIS CONGENITA
DYSTROPHIC EPIDERMOLYSIS BULLOSA
EHLERS-DANLOS SYNDROME, TYPE VIIC
ELLIS-VAN CREVELD SYNDOME
EMERY-DREIFUSS MUSCULAR DYSTROPHY 1 X-LI
ENHANCED S-CONE SYNDROME
ETHYLMALONIC ENCEPHALOPATHY
FABRY DISEASE
FACTOR IX DEFICIENCY
FACTOR XI DEFICIENCY
HORIZON 274 CARRIER SCREEN FAMILIAL DYSAUTONOMIA
FAMILIAL HYPERCHOLESTEROLEMIA, LDLR
FAMILIAL HYPERCHOLESTEROLEMIA, LDLRAP1
HORIZON 274 CARRIER SCREEN FAMILIAL HYPERINSULINISM
FAMILIAL MEDITERRANEAN FEVER
FAMILIAL NEUROPOPHYSEAL DIABETES INSIPID
FANCONI ANEMIA, GROUP A
FANCONI ANEMIA, GROUP C
FANCONI ANEMIA, GROUP G
FRAGILE X SYNDROME
FUMARASE DEFICIENCY
GRACILE SYNDROME
GALACTOKINASE DEFICIENCY
GALACTOSEMIA
GAUCHER DISEASE
GITELMAN SYNDROME
GLUTARIC ACIDEMIA, TYPE 1
GLUTARIC ACIDEMIA, TYPE 2A
GLUTARIC ACIDEMIA, TYPE 2C
GLYCINE ENCEPHALOPATHY, AMT-RELATED
GLYCINE ENCEPHALOPATHY, GLDC-REL
GLYCOGEN STORAGE DISEASE, TYPE 1A
GLYCOGEN STORAGE DISEASE, TYPE 1B
GLYCOGEN STORAGE DISEASE, TYPE 2
GLYCOGEN STORAGE DISEASE, TYPE 3
GLYCOGEN STORAGE DISEASE, TYPE 4
GLYCOGEN STORAGE DISEASE, TYPE 5
GLYCOGEN STORAGE DISEASE, TYPE 7
GUANIDINOACETATE METHYLTRANSFERASE DEFIC
HEMOCHROMATOSIS, TYPE 2A
HEMOCHROMATOSIS, TYPE 3, TFR2-RELATED
HEPATOCEREBRAL MITOCHONDRIAL DNA DEPLETI
HEREDITARY FRUCTOSE INTOLERANCE
HEREDITARY SPASTIC PARAPARESIS, TYPE 49
HERMANSKY-PUDLAK SYNDROME, HPS1-RELATED
HERMANSKY-PUDLAK SYNDROME, HPS3-RELATED
HOLOCARBOXYLASE SYNTHETASE DEFICIENCY
HOMOCYSTINURIA DUE TO DEFIC OF MTHFR
HOMOCYSTINURIA, CBS-RELATED
HOMOCYSTINURIA, TYPE CBLE
HYDROLETHALUS SYNDROME
HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCIT
HYPOHIDROTIC ECTODERMAL DYSPLASIA X-LINK
HYPOPHOSPHATASIA, ALPL-RELATED
INCLUSION BODY MYOPATHY 2
INFANTILE CEREBRAL AND CEREBELLAR ATROPH
ISOVALERIC ACIDEMIA
JOUBERT SYNDROME 2
JUVENILE RETINOSCHISIS, X-LINKED
KRABBE DISEASE
LAMELLAR ICHTHYOSIS, TYPE 1
LEBER CONGENITAL AMAUROSIS 2
LEBER CONGENITAL AMAUROSIS, TYPE CEP290
LEBER CONGENITAL AMAUROSIS, TYPE LCA5
LEBER CONGENITAL AMAUROSIS, TYPE RDH12
LEIGH SYNDROME, FRENCH-CANADIAN TYPE
LETHAL CONGENITAL CONTRACTURE SYNDROME 1
LEUKOENCEPHALOPATHY WITH VANISHING WHITE
LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2A
LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2B
LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2C
LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2D
LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2E
LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2I
LIPOAMIDE DEHYDROGENASE DEFICIENCY
LIPOID ADRENAL HYPERPLASIA
LIPOPROTEIN LIPASE DEFICIENCY
LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENA
LYSINURIC PROTEIN INTOLERANCE
MAPLE SYRUP URINE DISEASE, TYPE 1A
MAPLE SYRUP URINE DISEASE, TYPE 1B
MECKEL-GRUBER SYNDROME, TYPE 1
MEDIUM CHAIN ACYL-COA DEHYDROGENASE DEF
MEGALENCEPHALIC LEUKOENCEPHALOPATHY
MENKES SYNDROME
METACHROMATIC LEUKODYSTROPHY, ARSA
METACHROMATIC LEUKODYSTROPHY, PSAP
METHYLMALONIC ACIDURIA AND HOMOCYST CBIC
METHYLMALONIC ACIDURIA AND HOMOCYST CBID
METHYLMALONIC ACIDURIA, MMAA-RELATED
METHYLMALONIC ACIDURIA, MMAB-RELATED
METHYLMALONIC ACIDURIA, TYPE MUT(0)
MICROPHTHALMIA/ANOPHTHALMIA
MITOCHONDRIAL COMPLEX 1 DEFIC ACAD9
MITOCHONDRIAL COMPLEX 1 DEFIC NDUFAF5
MITOCHONDRIAL COMPLEX 1 DEFIC NDUFS6
MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC
MUCOLIPIDOSIS II/IIIA
MUCOLIPIDOSIS III GAMMA
MUCOLIPIDOSIS, TYPE IV
MUCOPOLYSACCHARIDOSIS, TYPE I
MUCOPOLYSACCHARIDOSIS, TYPE II
MUCOPOLYSACCHARIDOSIS, TYPE IIIA
MUCOPOLYSACCHARIDOSIS, TYPE IIIB
MUCOPOLYSACCHARIDOSIS, TYPE IIIC
MUCOPOLYSACCHARIDOSIS, TYPE IIID
MUCOPOLYSACCHARIDOSIS, TYPE IVB
MUCOPOLYSACCHARIDOSIS, TYPE IX
MUCOPOLYSACCHARIDOSIS, TYPE VI
MULTIPLE SULPHATASE DEFICIENCY
MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATE
MYONEUROGASTROINTESTINAL ENCEPHALOPATHY
MYOTUBULAR MYOPATHY, X-LINKED
N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY
NEMALINE MYOPATHY
NEURONAL CEROID LIPOFUSCINOSIS, CLN5
NEURONAL CEROID LIPOFUSCINOSIS, CLN6
NEURONAL CEROID LIPOFUSCINOSIS, CLN8
NEURONAL CEROID LIPOFUSCINOSIS, MFSD8
NEURONAL CEROID LIPOFUSCINOSIS, PPT1-REL
NEURONAL CEROID LIPOFUSCINOSIS, TPP1-REL
NIEMANN-PICK DISEASE, TYPE C1/D
NIEMANN-PICK DISEASE, TYPE C2
NIEMANN-PICK DISEASE, TYPES A/B
NIJMEGEN BREAKAGE SYNDROME
NON-SYNDROMIC HEARING LOSS, GJB2-RELATED
ODONTO-ONYCHO-DERMAL DYSPLASIA
OMENN SYNDROME
ORNITHINE AMINOTRANSFERASE DEFICIENCY
ORNITHINE TRANSCARBAMYLASE DEFICIENCY
OSTEOPETROSIS, INFANTILE MALIGNANT
PENDRED SYNDROME
PHENYLKETONURIA
PITUITARY HORMONE DEFICIENCY, COMBINED 3
POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL REC
PONTOCEREBELLAR HYPOPLASIA, RARS2-RELATE
PONTOCEREBELLAR HYPOPLASIA, TYPE 1A
PONTOCEREBELLAR HYPOPLASIA, TYPE 2D
PRIMARY CILIARY DYSKINESIA DNAH5-RELATED
PRIMARY CILIARY DYSKINESIA DNAI1-RELATED
PRIMARY CILIARY DYSKINESIA DNAI2-RELATED
PRIMARY HYPEROXALURIA, TYPE 1
PRIMARY HYPEROXALURIA, TYPE 2
PRIMARY HYPEROXALURIA, TYPE 3
PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLES
PROPIONIC ACIDEMIA, PCCA-RELATED
PROPIONIC ACIDEMIA, PCCB-RELATED
PYCNODYSOSTOSIS
PYRUVATE DEHYDROGENASE DEFICIENCY AUTOSO
PYRUVATE DEHYDROGENASE DEFICIENCY X-LINK
RENAL TUBULAR ACIDOSIS AND DEAFNESS
RETINITIS PIGMENTOSA 25
RETINITIS PIGMENTOSA 26
RETINITIS PIGMENTOSA 28
RETINITIS PIGMENTOSA 59
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA 1
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA 3
ROBERTS SYNDROME
SALLA DISEASE
SANDHOFF DISEASE
SCHIMKE IMMUNOOSSEOUS DYSPLASIA
SEGAWA SYNDROME, TH-RELATED
SEVERE COMBINED IMMUNODEFICIENCY ADA-REL
SEVERE COMBINED IMMUNODEFICIENCY, TYPE A
SEVERE COMBINED IMMUNODEFICIENCY, X-LINK
SJOGREN-LARSSON SYNDROME
SMITH-LEMLI-OPITZ SYNDROME
HORIZON 274 CARRIER SCREEN SPINAL MUSCULAR ATROPHY
SPONDYLOTHORACIC DYSOSTOSIS
STEROID-RESISTANT NEPHROTIC SYNDROME
STUVE-WIEDEMANN SYNDROME
TAY-SACHS DISEASE
TYROSINEMIA, TYPE I
USHER SYNDROME, TYPE 1B
USHER SYNDROME, TYPE 1C
USHER SYNDROME, TYPE 1D
USHER SYNDROME, TYPE 1F
USHER SYNDROME, TYPE 2A
USHER SYNDROME, TYPE 3
VERY LONG CHAIN ACYL-COA DEHYDROGENASE
WALKER-WARBURG SYNDROME
WILSON DISEASE
WOLMAN DISEASE
ZELLWEGER SPECTRUM DISORDERS, PEX1-RELAT
ZELLWEGER SPECTRUM DISORDERS, PEX10-RELA
ZELLWEGER SPECTRUM DISORDERS, PEX2-RELAT
ZELLWEGER SPECTRUM DISORDERS, PEX6-RELAT
COMPONENT DATA REQUIREMENT
EPIC OP AOEs

Question IDQuestion NameQuestionResponse TypeResponse ListRequire 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
3046000042 NH IP ETHNICITY Ethnicity Custom List African American
Ashkenazi Jewish
Caucasion
East Asian
French Canadian/Cajun
Hispanic
Mediterranean
South-East Asian
Sepahrdic Jewish
Other		 Yes
EPIC IP AOEs

Question IDQuestion NameQuestionResponse TypeResponse ListRequire 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
3046000042 NH IP ETHNICITY Ethnicity Custom List African American
Ashkenazi Jewish
Caucasion
East Asian
French Canadian/Cajun
Hispanic
Mediterranean
South-East Asian
Sepahrdic Jewish
Other		 Yes
EPIC Components (results - crosswalked through Cerner)

Component IDComponent NameBase NameCommon NameExternal NameCerner Result PDM
3047803286.0 LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2A MUSCDYST2A LIMB GIRDLE MUSCULAR DYSTROPHY, TYPE 2A Limb-Girdle Muscular Dystrophy, Type 2A 225281EW
3047800963.0 ALPORT SYNDROME, COL4A4-RELATED ALPORTSY ALPORT SYNDROME, COL4A4 RELATED Alport Syndrome, COL4A4-Related 225281S
3047803417.0 MECKEL-GRUBER SYNDROME, TYPE 1 MECGRUB MECKEL GRUBER SYNDROME, TYPE 1 Meckel-Gruber Syndrome, Type 1 225281FJ
3047801808.0 CITRIN DEFICIENCY CITRINDEF CITRIN DEFICIENCY Citrin Deficiency 225281BE
3047805657.0 HORIZON 274 CARRIER SCREEN SPINAL MUSCULAR ATROPHY SMA SMA, ATROPHY Spinal Muscular Atrophy 225281IS
3047803507.0 METHYLMALONIC ACIDURIA, TYPE MUT(0) METHYLTM0 METHYLMALONIC ACIDURIA, TYPE MUT 0 Methylmalonic Aciduria, Type mut(0) 225281FS
3047804716.0 SEVERE COMBINED IMMUNODEFICIENCY, TYPE A SEVIMMTYA SEVERE COMBINED IMMUNODEFICIENCY, TYPE A Severe Combined Immunodeficiency, Type Athabaskan 225281IP
3047801976.0 CONGENITAL MYASTHENIC SYNDROME, RAPSN-RE CONMYASYNRA CONGENITAL MYASTHENIC SYNDROME, RAPSN RE Congenital Myasthenic Syndrome, RAPSN-Related 225281BT
3047805328.0 ZELLWEGER SPECTRUM DISORDERS, PEX10-RELA ZELLWEGE10 ZELLWEGER SPECTRUM DISORDERS, PEX10 RELA Zellweger Spectrum Disorders, PEX10-Related 225281JN
3047805689.0 WALKER-WARBURG SYNDROME WWSYND WWSYND, SYNDROME Walker-Warburg Syndrome, FKTN-Related 225281JF
3047805474.0 FABRY DISEASE FABRY FABRY DISEASE Fabry Disease 225281CN
3047800846.0 ACHONDROGENESIS, TYPE 1B ACHONDROG1B ACHONDROGENESIS, TYPE 1B Achondrogenesis, Type 1B 225281H
3047801993.0 CORTICOSTERONE METHYLOXIDASE DEFICIENCY CORTMETHDEF CORTICOSTERONE METHYLOXIDASE DEFICIENCY Corticosterone Methyloxidase Deficiency 225281BX
3047803212.0 LAMELLAR ICHTHYOSIS, TYPE 1 LAMELLAR LAMELLAR ICHTHYOSIS, TYPE 1 Lamellar Ichthyosis, Type 1 225281EO
3047802247.0 DYSKERATOSIS CONGENITA DYSKERCONG DYSKERATOSIS CONGENITA Dyskeratosis Congenita, RTEL1-Related 225281CG
3047802414.0 FAMILIAL NEUROPOPHYSEAL DIABETES INSIPID NEURDIAINFAM FAMILIAL NEUROPOPHYSEAL DIABETES INSIPID Familial Nephrogenic Diabetes Insipidus, AQP2-Related 225281CV
3047802630.0 GLYCINE ENCEPHALOPATHY, GLDC-REL GLYENCGLDCRE GLYCINE ENCEPHALOPATHY, GLDC REL Glycine Encephalopathy, GLDC-Related 225281DJ
3047803247.0 LEBER CONGENITAL AMAUROSIS, TYPE CEP290 LECEP290 LEBER CONGENITAL AMAUROSIS, TYPE CEP290 Leber Congenital Amaurosis, Type CEP290 225281EQ
3047802622.0 GLUTARIC ACIDEMIA, TYPE 2A NTRAGLUTYP2A GLUTARIC ACIDEMIA, TYPE 2A Glutaric Acidemia, Type 2A 225281DF
3047803643.0 MUCOPOLYSACCHARIDOSIS, TYPE IX MUCOPOLYSAC9 MUCOPOLYSACCHARIDOSIS, TYPE IX Mucopolysaccharidosis, Type IX 225281GJ
3047803288.0 LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2C MUSCDYST2C LIMB GIRDLE MUSCULAR DYSTROPHY, TYPE 2C Limb-Girdle Muscular Dystrophy, Type 2C 225281EY
3047805581.0 NEMALINE MYOPATHY NEMALINEMYO NEMALINEMYO, MYOPATHY Nemaline Myopathy, NEB-Related 225281GP
3047802984.0 HYPOPHOSPHATASIA, ALPL-RELATED HYPOPHOSALPL HYPOPHOSPHATASIA, ALPL RELATED Hypophosphatasia, ALPL-Related 225281EH
3047802527.0 FUMARASE DEFICIENCY FUMARASEDEF FUMARASE DEFICIENCY Fumarase Deficiency 225281DA
3047803731.0 NEURONAL CEROID LIPOFUSCINOSIS, CLN8 NEURCERLIP8 NEURONAL CEROID LIPOFUSCINOSIS, CLN8 Neuronal Ceroid Lipofuscinosis, CLN8-Related 225281GS
3047804715.0 SEVERE COMBINED IMMUNODEFICIENCY ADA-REL SEVIMMAD SEVERE COMBINED IMMUNODEFICIENCY ADA REL Severe Combined Immunodeficiency, ADA-Related 225281IO
3047802420.0 FANCONI ANEMIA, GROUP G FANCONIANGRG FANCONI ANEMIA, GROUP G Fanconi Anemia, Group G 225281CY
3047805659.0 SPONDYLOTHORACIC DYSOSTOSIS SPONDDYS SPONDDYS, DYSOSTOSIS Spondylothoracic Dysostosis, MESP2-Related 225281IT
3047805550.0 LIPOAMIDE DEHYDROGENASE DEFICIENCY LDD LIPOAMIDE DEHYDROGENASE DEFICIENCY Lipoamide Dehydrogenase Deficiency 225281FC
3047802637.0 GLYCOGEN STORAGE DISEASE, TYPE 2 NTRAGSDT2 GLYCOGEN STORAGE DISEASE, TYPE 2 Glycogen Storage Disease, Type 2 (Pompe Disease) 225281DM
3047805399.0 BARDET-BIEDL SYNDROME, BBS2-RELATED BBS2 BARDET BIEDL SYNDROME, BBS2 RELATED Bardet-Biedl Syndrome, BBS2-Related 225281AF
3047803535.0 MITOCHONDRIAL COMPLEX 1 DEFIC NDUFAF5 MITOCHONCOM MITOCHONDRIAL COMPLEX 1 DEFIC NDUFAF5 Mitochondrial Complex 1 Deficiency, NDUFAF5-Related 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 Megalencephalic Leukoencephalopathy with Subcortical Cysts 225281FL
3047805543.0 JOUBERT SYNDROME 2 JOUBERTSY2 JOUBERT SYNDROME 2 Joubert Syndrome 2 / Meckel Syndrome 2 225281EL
3047805290.0 WOLMAN DISEASE WOLDIS WOLMAN DISEASE Wolman Disease 225281JH
3047805513.0 HEREDITARY FRUCTOSE INTOLERANCE HEREDFRUC HEREDITARY FRUCTOSE INTOLERANCE Hereditary Fructose Intolerance 225281DV
3047804530.0 RENAL TUBULAR ACIDOSIS AND DEAFNESS RENTUAC RENAL TUBULAR ACIDOSIS AND DEAFNESS Renal Tubular Acidosis and Deafness, ATP6V1B1-Related 225281IB
3047803639.0 MUCOPOLYSACCHARIDOSIS, TYPE IIIB MUCOPOLYSA3B MUCOPOLYSACCHARIDOSIS, TYPE IIIB Mucopolysaccharidosis, Type IIIB (Sanfilippo B) 225281GE
3047802774.0 HEREDITARY SPASTIC PARAPARESIS, TYPE 49 NTRAHSPT49 HEREDITARY SPASTIC PARAPARESIS, TYPE 49 Hereditary Spastic Paraparesis, Type 49 225281DW
3047803427.0 MENKES SYNDROME MENKES MENKES SYNDROME Menkes Syndrome 225281HB
3047801318.0 BATTEN DISEASE BATTEN BATTEN DISEASE Batten Disease, CLN3-Related 225281AK
3047805576.0 MUCOLIPIDOSIS III GAMMA MUCOLIPGAM MUCOLIPGAM, GAMMA Mucolipidosis III gamma 225281FZ
3047802741.0 HEMOCHROMATOSIS, TYPE 3, TFR2-RELATED NTRAHEMT3 HEMOCHROMATOSIS, TYPE 3, TFR2 RELATED Hemochromatosis, Type 3, TFR2-Related 225281DU
3047803638.0 MUCOPOLYSACCHARIDOSIS, TYPE IIIA MUCOPOLYSA3A MUCOPOLYSACCHARIDOSIS, TYPE IIIA Mucopolysaccharidosis, Type IIIA (Sanfilippo A) 225281GD
3047803362.0 LYSINURIC PROTEIN INTOLERANCE LYSINURIC LYSINURIC PROTEIN INTOLERANCE Lysinuric Protein Intolerance 225281FG
3047800784.0 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFIC 3METHCOACAR1 3 METHYLCROTONYL COA CARBOXYLASE 1 DEFICIENCY 3-Methylcrotonyl-CoA Carboxylase 1 Deficiency 225281C
3047801800.0 CILIOPATHIES, RPGRIP1L-RELATED CILLOPATH CILIOPATHIES, RPGRIP1L RELATED Ciliopathies, RPGRIP1L-Related 225281BD
3047803287.0 LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2B MUSCDYST2B LIMB GIRDLE MUSCULAR DYSTROPHY, TYPE 2B Limb-Girdle Muscular Dystrophy, Type 2B 225281EX
3047802411.0 FAMILIAL HYPERCHOLESTEROLEMIA, LDLR HYPCHFALDLR FAMILIAL HYPERCHOLESTEROLEMIA, LDLR Familial Hypercholesterolemia, LDLR-Related 225281CR
3047801623.0 CARBAMOYL PHOSPHATE SYNTHETASE I DEF CPSDEF CARBAMOYL PHOSPHATE SYNTHETASE I DEF Carbamoyl Phosphate Synthetase I Deficiency 225281AQ
3047805187.0 USHER SYNDROME, TYPE 1C USHT1C USHER SYNDROME, TYPE 1C Usher Syndrome, Type 1C 225281IZ
3047802640.0 GLYCOGEN STORAGE DISEASE, TYPE 5 NTRAGSDT5 GLYCOGEN STORAGE DISEASE, TYPE 5 Glycogen Storage Disease, Type 5 (McArdle Disease) 225281DP
3047805397.0 BARDET-BIEDL SYNDROME, BBS1-RELATED BBS1 BARDET BIEDL SYNDROME, BBS1 RELATED Bardet-Biedl Syndrome, BBS1-Related 225281AE
3047805481.0 HORIZON 274 CARRIER SCREEN FAMILIAL HYPERINSULINISM FAMHYPER HORIZON 274 CARRIER SCREEN FAMILIAL HYPERINSULINISM Familial Hyperinsulinism, ABCC8-Related 225281CT
3047805495.0 NATERA FOOTNOTES FOOTNOTES NATERA FOOTNOTES Natera Footnotes 225043D
3047805629.0 REPORT NOTES REPORTNOTE REPORTNOTE, NOTES Report Notes 225043C
3047801968.0 CONGENITAL DISORDER OF GLYCOSYLATION 1B CONDOGLYC1B CONGENITAL DISORDER OF GLYCOSYLATION 1B Congenital Disorder of Glycosylation, Type 1B 225281BO
3047804558.0 RETINITIS PIGMENTOSA 28 RETPIG28 RETINITIS PIGMENTOSA 28 Retinitis Pigmentosa 28 225281IE
3047805584.0 NIJMEGEN BREAKAGE SYNDROME NIJMEGEN NIJMEGEN, SYNDROME Nijmegen Breakage Syndrome 225281GZ
3047803534.0 MITOCHONDRIAL COMPLEX 1 DEFIC ACAD9 MITOCHCOM MITOCHONDRIAL COMPLEX 1 DEFIC ACAD9 Mitochondrial Complex 1 Deficiency, ACAD9-Related 225281II
3047801196.0 ASPARAGINE SYNTHETASE DEFICIENCY ASPARAGINESD ASPARAGINE SYNTHETASE DEFICIENCY Asparagine Synthetase Deficiency 225281Y
3047802629.0 GLYCINE ENCEPHALOPATHY, AMT-RELATED GLYENCEAMTRE GLYCINE ENCEPHALOPATHY, AMT RELATED Glycine Encephalopathy, AMT-Related 225281DI
3047801651.0 CARPENTER SYNDROME CARPENTERSYN CARPENTER SYNDROME Carpenter Syndrome 225281AU
3047803248.0 LEBER CONGENITAL AMAUROSIS, TYPE LCA5 LELCA5 LEBER CONGENITAL AMAUROSIS, TYPE LCA5 Leber Congenital Amaurosis, Type LCA5 225281ER
3047800900.0 AICARDI-GOUTIÈRES SYNDROME AICGOUTSYN NTRA AICARDI GOUTIÈRES SYNDROME Aicardi-Goutieres Syndrome 225281N
3047804913.0 TAY-SACHS DISEASE TAYSACHSDIS TAY SACHS DISEASE Tay-Sachs Disease 225281IW
3047802623.0 GLUTARIC ACIDEMIA, TYPE 2C NTRAGLUTYP2C GLUTARIC ACIDEMIA, TYPE 2C 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 Leber Congenital Amaurosis, Type RDH12 225281ES
3047803656.0 MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATE MUSEYEDIS MUSCLE EYE BRAIN DISEASE, POMGNT1 RELATE Muscle-Eye-Brain Disease, POMGNT1-Related 225281GL
3047804868.0 STUVE-WIEDEMANN SYNDROME STUVEWIE STUVE WIEDEMANN SYNDROME Stuve-Wiedemann Syndrome 225281IV
3047805432.0 COHEN SYNDROME COHENSYN COHEN SYNDROME Cohen Syndrome 225281BG
3047803641.0 MUCOPOLYSACCHARIDOSIS, TYPE IIID MUCOPOLYSA3D MUCOPOLYSACCHARIDOSIS, TYPE IIID Mucopolysaccharidosis, Type IIID (Sanfilippo D) 225281GG
3047804212.0 PONTOCEREBELLAR HYPOPLASIA, RARS2-RELATE PONRARS2 PONTOCEREBELLAR HYPOPLASIA, RARS2 RELATE Pontocerebellar Hypoplasia, RARS2-Related 225281HN
3047800849.0 ACRODERMATITIS ENTEROPATHICA ACRODERMENTE ACRODERMATITIS ENTEROPATHICA Acrodermatitis Enteropathica 225281J
3047803418.0 MEDIUM CHAIN ACYL-COA DEHYDROGENASE DEF ACYLCOA MEDIUM CHAIN ACYL COA DEHYDROGENASE DEF Medium Chain Acyl-CoA Dehydrogenase Deficiency 225281FK
3047804565.0 RHIZOMELIC CHONDRODYSPLASIA PUNCTATA 1 RHCHPUTY1 RHIZOMELIC CHONDRODYSPLASIA PUNCTATA 1 Rhizomelic Chondrodysplasia Punctata, Type 1 225281IG
3047802419.0 FANCONI ANEMIA, GROUP C FANCONIANGRC FANCONI ANEMIA, GROUP C Fanconi Anemia, Group C 225281CX
3047805418.0 CARTILAGE-HAIR HYPOPLASIA CARTHYPO CARTILAGE HAIR HYPOPLASIA Cartilage-Hair Hypoplasia 225281AV
3047802983.0 HYPOHIDROTIC ECTODERMAL DYSPLASIA X-LINK HYPOHIDR HYPOHIDROTIC ECTODERMAL DYSPLASIA X LINK Hypohidrotic Ectodermal Dysplasia, X-Linked 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 Hemochromatosis, Type 2A 225281DT
3047805186.0 USHER SYNDROME, TYPE 1B USHT1B USHER SYNDROME, TYPE 1B Usher Syndrome, Type 1B 225281IY
3047803733.0 NEURONAL CEROID LIPOFUSCINOSIS, PPT1-REL NEURCRLIPPT1 NEURONAL CEROID LIPOFUSCINOSIS, PPT1 REL Neuronal Ceroid Lipofuscinosis, PPT1-Related 225281GU
3047804667.0 SCHIMKE IMMUNOOSSEOUS DYSPLASIA SCHIMMDYSP SCHIMKE IMMUNOOSSEOUS DYSPLASIA Schimke Immunoosseous Dysplasia 225281IM
3047805387.0 ASPARTYLGLYCOSAMINURIA ASPARTYLGLYO ASPARTYLGLYCOSAMINURIA Aspartylglycosaminuria 225281Z
3047803637.0 MUCOPOLYSACCHARIDOSIS, TYPE II MUCOPOLYSA2 MUCOPOLYSACCHARIDOSIS, TYPE II Mucopolysaccharidosis, Type II (Hunter Syndrome) 225281GC
3047805526.0 INCLUSION BODY MYOPATHY 2 IBM2 INCLUSION BODY MYOPATHY 2 Inclusion Body Myopathy 2 225281EI
3047805518.0 HOLOCARBOXYLASE SYNTHETASE DEFICIENCY HSD HOLOCARBOXYLASE SYNTHETASE DEFICIENCY Holocarboxylase Synthetase Deficiency 225281DZ
3047801177.0 AROMATASE DEFICIENCY AROMADEF AROMATASE DEFICIENCY Aromatase Deficiency 225281X
3047802897.0 HOMOCYSTINURIA DUE TO DEFIC OF MTHFR HOMOCYSURD HOMOCYSTINURIA DUE TO DEFIC OF MTHFR Homocystinuria due to Deficiency of MTHFR 225281EB
3047801965.0 CONGENITAL ADRENAL HYPERPLASIA, 17-ALPHA CONGADNHY17A CONGENITAL ADRENAL HYPERPLASIA, 17 ALPHA Congenital Adrenal Hyperplasia, 17-Alpha-Hydroxylase Deficiency 225281BL
3047803051.0 INFANTILE CEREBRAL AND CEREBELLAR ATROPH CEREBRAL INFANTILE CEREBRAL AND CEREBELLAR ATROPH Infantile Cerebral and Cerebellar Atrophy 225281EJ
3047804258.0 PRIMARY HYPEROXALURIA, TYPE 3 PRHYTY3 PRIMARY HYPEROXALURIA, TYPE 3 Primary Hyperoxaluria, Type 3 225281HT
3047805407.0 HORIZON 274 CARRIER SCREEN BLOOM SYNDROME HORBLOOMSYN HORIZON 274 CARRIER SCREEN BLOOM SYNDROME Bloom Syndrome 225281AO
3047804077.0 PHENYLKETONURIA PHENYLKE PHENYLKETONURIA Phenylketonuria 225281HI
3047801382.0 BILATERAL FRONTOPARIETAL POLYMICROGYRIA BILATFRONT BILATERAL FRONTOPARIETAL POLYMICROGYRIA Bilateral Frontoparietal Polymicrogyria 225281AM
3047805420.0 CEREBROTENDINOUS XANTHOMATOSIS CERBROTEND CEREBROTENDINOUS XANTHOMATOSIS Cerebrotendinous Xanthomatosis 225281AW
3047802898.0 HOMOCYSTINURIA, CBS-RELATED HOMOCBSRE HOMOCYSTINURIA, CBS RELATED Homocystinuria, CBS-Related 225281EA
3047805225.0 VERY LONG CHAIN ACYL-COA DEHYDROGENASE VERYLONG VERY LONG CHAIN ACYL COA DEHYDROGENASE Very Long Chain Acyl-CoA Dehydrogenase Deficiency 225281JE
3047801966.0 CONGENITAL AMEGAKARYOCYTIC THROMBOCYTOPE CONGAMETRHO CONGENITAL AMEGAKARYOCYTIC THROMBOCYTOPE Congenital Amegakaryocytic Thrombocytopenia 225281BM
3047805497.0 FRAGILE X SYNDROME FRAGILEX FRAGILE X SYNDROME Fragile X Syndrome 225281CZ
3047801931.0 COMBINED MALONIC AND METHYLMALONIC ACIDU CMMA COMBINED MALONIC AND METHYLMALONIC ACIDU Combined Malonic and Methylmalonic Aciduria 225281BH
3047802590.0 GITELMAN SYNDROME NTRAGITELSYN GITELMAN SYNDROME Gitelman Syndrome 225281DE
3047802418.0 FANCONI ANEMIA, GROUP A FANCONIANGRA FANCONI ANEMIA, GROUP A Fanconi Anemia, Group A 225281CW
3047805188.0 USHER SYNDROME, TYPE 1D USHT1D USHER SYNDROME, TYPE 1D Usher Syndrome, Type 1D 225281JA
3047803446.0 METACHROMATIC LEUKODYSTROPHY, PSAP METALEUKO METACHROMATIC LEUKODYSTROPHY, PSAP Metachromatic Leukodystrophy, PSAP-Related 225281FN
3047804559.0 RETINITIS PIGMENTOSA 59 RETPIG59 RETINITIS PIGMENTOSA 59 Retinitis Pigmentosa 59 225281IF
3047803305.0 LIPOPROTEIN LIPASE DEFICIENCY LIPOPROT LIPOPROTEIN LIPASE DEFICIENCY Lipoprotein Lipase Deficiency 225281FE
3047805404.0 BIOTINIDASE DEFICIENCY BIOTINIDASE BIOTINIDASE DEFICIENCY Biotinidase Deficiency 225281AN
3047803765.0 NON-SYNDROMIC HEARING LOSS, GJB2-RELATED NONSYNDRHL NON SYNDROMIC HEARING LOSS, GJB2 RELATED Non-Syndromic Hearing Loss, GJB2-Related 225281HA
3047805383.0 ANDERMANN SYNDROME ANDERMANN ANDERMANN SYNDROME Andermann Syndrome 225281V
3047803848.0 ODONTO-ONYCHO-DERMAL DYSPLASIA ONONDERDYS ODONTO ONYCHO DERMAL DYSPLASIA Odonto-Onycho-Dermal Dysplasia 225281HC
3047805329.0 ZELLWEGER SPECTRUM DISORDERS, PEX1-RELAT ZELLWEGE10 ZELLWEGER SPECTRUM DISORDERS, PEX1 RELAT Zellweger Spectrum Disorders, PEX1-Related 225281JK
3047801220.0 AUTOIMMUNE POLYGLANDULAR SYNDROME AUTOPOLYSYN AUTOIMMUNE POLYGLANDULAR SYNDROME Autoimmune Polyglandular Syndrome, Type 1 225281HL
3047805148.0 TYROSINEMIA, TYPE I TYROTY1 TYROSINEMIA, TYPE I Tyrosinemia, Type 1 225281IX
3047802621.0 GLUTARIC ACIDEMIA, TYPE 1 NTRAGLUCOADE GLUTARIC ACIDEMIA, TYPE 1 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 Alpha-Thalassemia 225281P
3047804257.0 PRIMARY HYPEROXALURIA, TYPE 2 PRHYTY2 PRIMARY HYPEROXALURIA, TYPE 2 Primary Hyperoxaluria, Type 2 225281HS
3047804099.0 PITUITARY HORMONE DEFICIENCY, COMBINED 3 PITUITARY PITUITARY HORMONE DEFICIENCY, COMBINED 3 Pituitary Hormone Deficiency, Combined 3 225281HJ
3047802636.0 GLYCOGEN STORAGE DISEASE, TYPE 1B GLYCSD1B GLYCOGEN STORAGE DISEASE, TYPE 1B Glycogen Storage Disease, Type 1b 225281DL
3047803502.0 METHYLMALONIC ACIDURIA AND HOMOCYST CBIC MEACHOCBLC MEACHOCBLC Methylmalonic Aciduria and Homocystinuria, Type cblC 225281FO
3047802978.0 HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCIT HHHSYNDR HYPERORNITHINEMIA HYPERAMMONEMIA HOMOCIT Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH Syndrome) 225281EF
3047805457.0 CYSTINOSIS CYSTINOSIS CYSTINOSIS Cystinosis 225281CC
3047803644.0 MUCOPOLYSACCHARIDOSIS, TYPE VI MUCOPOLYSAC6 MUCOPOLYSACCHARIDOSIS, TYPE VI Mucopolysaccharidosis, Type VI (Maroteaux-Lamy) 225281GI
3047804538.0 REPORT SUMMARY REPRTSUM REPORT SUMMARY Report Summary 225043A
3047803163.0 JUVENILE RETINOSCHISIS, X-LINKED RETINOSCH JUVENILE RETINOSCHISIS, X LINKED Juvenile Retinoschisis, X-Linked 225281JI
3047805643.0 SALLA DISEASE SALLADIS SALLADIS, DISEASE Salla Disease 225281IK
3047801645.0 CARNITINE PALMITOYLTRANSFERASE II DEF CPTDEF2 CARNITINE PALMITOYLTRANSFERASE II DEF Carnitine Palmitoyltransferase II Deficiency 225281AT
3047805391.0 ATAXIA-TELANGIECTASIA ATAXIATELAN ATAXIA TELANGIECTASIA Ataxia-Telangiectasia 225281AB
3047801969.0 CONGENITAL DISORDER OF GLYCOSYLATION 1C CONDOGLYC1C CONGENITAL DISORDER OF GLYCOSYLATION 1C Congenital Disorder of Glycosylation, Type 1C 225281BP
3047803696.0 N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY NACETGLUTSYN N ACETYLGLUTAMATE SYNTHASE DEFICIENCY N-acetylglutamate Synthase Deficiency 225281GO
3047802300.0 EMERY-DREIFUSS MUSCULAR DYSTROPHY 1 X-LI EMERYDMD EMERY DREIFUSS MUSCULAR DYSTROPHY 1 X LI Emery-Dreifuss Muscular Dystrophy 1, X-Linked 225281CK
3047803271.0 LEUKOENCEPHALOPATHY WITH VANISHING WHITE LEUKOENCEPH LEUKOENCEPHALOPATHY WITH VANISHING WHITE Leukoencephalopathy with Vanishing White Matter 225281EV
3047805330.0 ZELLWEGER SPECTRUM DISORDERS, PEX2-RELAT ZELLWEGE2 ZELLWEGER SPECTRUM DISORDERS, PEX2 RELAT Zellweger Spectrum Disorders, PEX2-Related 225281JL
3047802412.0 FAMILIAL HYPERCHOLESTEROLEMIA, LDLRAP1 HYPCHFALDLRA FAMILIAL HYPERCHOLESTEROLEMIA, LDLRAP1 Familial Hypercholesterolemia, LDLRAP1-Related 225281CS
3047804557.0 RETINITIS PIGMENTOSA 26 RETPIG26 RETINITIS PIGMENTOSA 26 Retinitis Pigmentosa 26 225281ID
3047801310.0 BARTTER SYNDROME BARTTER BARTTER SYNDROME Bartter Syndrome, BSND-Related 225281AJ
3047805395.0 BARDET-BIEDL SYNDROME, BBS12-RELATED BBS12 BARDET BIEDL SYNDROME, BBS12 RELATED Bardet-Biedl Syndrome, BBS12-Related 225281AH
3047805389.0 ATAXIA WITH VITAMIN E DEFICIENCY ATAXIAVITE ATAXIA WITH VITAMIN E DEFIENCY Ataxia with Vitamin E Deficiency 225281AA
3047801974.0 CONGENITAL INSENSIVITY TO PAIN WITH ANHI CONGINSPWA CONGENITAL INSENSIVITY TO PAIN WITH ANHI Congenital Insensitivity to Pain with Anhidrosis (CIPA) 225281BR
3047803301.0 LIPOID ADRENAL HYPERPLASIA LIPADRHYPER LIPOID ADRENAL HYPERPLASIA Lipoid Adrenal Hyperplasia 225281FD
3047802766.0 HEPATOCEREBRAL MITOCHONDRIAL DNA DEPLETI NTRAMITOCHON HEPATOCEREBRAL MITOCHONDRIAL DNA DEPLETI Hepatocerebral Mitochondrial DNA Depletion Syndrome, MPV17-Related 225281FW
3047805367.0 ACHROMATOPSIA ACHROMATOP ACHROMATOPSIA Achromatopsia, CNGB3-Related 225281I
3047802018.0 CRB1-RELATED RETINAL DYSTROPHIES CRB1RERETDY CRB1 RELATED RETINAL DYSTROPHIES CRB1-Related Retinal Dystrophies 225281BZ
3047802307.0 ENHANCED S-CONE SYNDROME ENHASCONSY ENHANCED S CONE SYNDROME Enhanced S-Cone Syndrome 225281CL
3047800786.0 3-PHOSPHOGLYCERATE DEHYDROGENASE DEFICIE 3PHOSPHODD 3 PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY 3-Phosphoglycerate Dehydrogenase Deficiency 225281E
3047801935.0 COMBINED PITUITARY HORMONE DEFICIENCY-2 COMBPITHOD2 COMBINED PITUITARY HORMONE DEFICIENCY 2 Combined Pituitary Hormone Deficiency-2 225281BK
3047803289.0 LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2D MUSCDYST2D LIMB GIRDLE MUSCULAR DYSTROPHY, TYPE 2D Limb-Girdle Muscular Dystrophy, Type 2D 225281EZ
3047805414.0 CANAVAN DISEASE CANAVAN CANAVAN DISEASE Canavan Disease 225281AP
3047800852.0 ACUTE INFANTILE LIVER FAILURE ACINFLIVFAIL ACUTE INFANTILE LIVER FAILURE Acute Infantile Liver Failure, TRMU-Related 225281K
3047804282.0 PROPIONIC ACIDEMIA, PCCB-RELATED PCCBPROACI PROPIONIC ACIDEMIA, PCCB RELATED Propionic Acidemia, PCCB-Related 225281HX
3047802899.0 HOMOCYSTINURIA, TYPE CBLE NTRAHOMOCYS HOMOCYSTINURIA, TYPE CBLE Homocystinuria, Type cblE 225281EC
3047805522.0 HYDROLETHALUS SYNDROME HYDROSYN HYDROLETHALUS SYNDROME Hydrolethalus Syndrome 225281ED
3047804214.0 PONTOCEREBELLAR HYPOPLASIA, TYPE 2D PONTYPE2D PONTOCEREBELLAR HYPOPLASIA, TYPE 2D Pontocerebellar Hypoplasia, Type 2D 225281HU
3047803692.0 MYOTUBULAR MYOPATHY, X-LINKED MYOTUBMYO MYOTUBULAR MYOPATHY, X LINKED Myotubular Myopathy, X-Linked 225281GN
3047805651.0 SMITH-LEMLI-OPITZ SYNDROME SLOS SLOS, SYNDROME Smith-Lemli-Opitz Syndrome 225281IR
3047800783.0 3-HYDROXY-3-METHYLGLUTARYL-COA LYASE DEF 3HYDRO3METH 3 HYDROXY 3 METHYLGLUTARYL COA LYASE DEFICIENCY 3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency 225281B
3047803536.0 MITOCHONDRIAL COMPLEX 1 DEFIC NDUFS6 MITOCHONCOM MITOCHONDRIAL COMPLEX 1 DEFIC NDUFS6 Mitochondrial Complex 1 Deficiency, NDUFS6-Related 225281FV
3047801217.0 AUTISM SPECTRUM, EPILEPSY AND ARTHROGRYP AUTISMSPEC AUTISM SPECTRUM, EPILEPSY AND ARTHROGRYP Autism Spectrum, Epilepsy and Arthrogryposis 225281AC
3047803640.0 MUCOPOLYSACCHARIDOSIS, TYPE IIIC MUCOPOLYSA3C MUCOPOLYSACCHARIDOSIS, TYPE IIIC Mucopolysaccharidosis, Type IIIC (Sanfilippo C) 225281GF
3047801641.0 CARNITINE DEFICIENCY CARNITINEDEF CARNITINE DEFICIENCY Carnitine Deficiency 225281AR
3047803537.0 MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC MITOMYOSID MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC Mitochondrial Myopathy and Sideroblastic Anemia (MLASA1) 225281FX
3047805503.0 GALACTOSEMIA GALACTOSEMIA GALACTOSEMIA Galactosemia 225281DC
3047805645.0 SANDHOFF DISEASE SANDHOFF SANDHOFF, DISEASE Sandhoff Disease 225281IL
3047805190.0 USHER SYNDROME, TYPE 2A USHT2A USHER SYNDROME, TYPE 2A Usher Syndrome, Type 2A 225281JC
3047805483.0 FAMILIAL MEDITERRANEAN FEVER FAMMED FAMILIAL MEDITERRANEAN FEVER Familial Mediterranean Fever 225281CU
3047801973.0 CONGENITAL HYPERINSULINISM CONHYPINS CONGENITAL HYPERINSULINISM Congenital Hyperinsulinism, KCNJ11-Related 225281EE
3047805548.0 LEIGH SYNDROME, FRENCH-CANADIAN TYPE LEIGHSYN LEIGH SYNDROME, FRENCH CANADIAN TYPE Leigh Syndrome, French-Canadian Type 225281ET
3047803886.0 ORNITHINE AMINOTRANSFERASE DEFICIENCY ORNITHAMDEF ORNITHINE AMINOTRANSFERASE DEFICIENCY Ornithine Aminotransferase Deficiency 225281HE
3047801794.0 CHRONIC GRANULOMATOUS DISEASE, CYBA-REL CGD CHRONIC GRANULOMATOUS DISEASE, CYBA REL Chronic Granulomatous Disease, CYBA-Related 225281BB
3047805541.0 ISOVALERIC ACIDEMIA ISOVALERIC ISOVALERIC ACIDEMIA Isovaleric Acidemia 225281EK
3047803642.0 MUCOPOLYSACCHARIDOSIS, TYPE IVB MUCOPOLYSA4B MUCOPOLYSACCHARIDOSIS, TYPE IVB Mucopolysaccharidosis, Type IVB / GM1 Gangliosidosis 225281GH
3047800782.0 3-BETA-HYDROXYSTEROID DEHYDROGENASE II 3BETAHYDDEH 3 BETA HYDROXYSTEROID DEHYDROGENASE TYPE II DEFICIENCY 3-Beta-Hydroxysteroid Dehydrogenase Type II Deficiency 225281A
3047800891.0 ADRENOLEUKODYSTROPHY ADRENOLEUK ADRENOLEUKODYSTROPHY Adrenoleukodystrophy, X-Linked 225281M
3047802366.0 ETHYLMALONIC ENCEPHALOPATHY ETHYLMALENC ETHYLMALONIC ENCEPHALOPATHY Ethylmalonic Encephalopathy 225281CM
3047803650.0 MULTIPLE SULPHATASE DEFICIENCY MULTSUPHDEF MULTIPLE SULPHATASE DEFICIENCY Multiple Sulfatase Deficiency 225281GK
3047805455.0 CYSTIC FIBROSIS CYSTICFIB CYSTIC FIBROSIS Cystic Fibrosis 225281CB
3047805694.0 WILSON DISEASE WILSONDIS WILSONDIS, DISEASE Wilson Disease 225281JG
3047802242.0 DUCHENNE/BECKER MUSCULAR DYSTROPHY DUCHBECKMD DUCHENNE BECKER MUSCULAR DYSTROPHY Duchenne/Becker Muscular Dystrophy 225281CF
3047802112.0 DEAFNESS, AUTOSOMAL RECESSIVE 77 DEAFAUTORE77 DEAFNESS, AUTOSOMAL RECESSIVE 77 Deafness, Autosomal Recessive 77 225281CE
3047803266.0 LETHAL CONGENITAL CONTRACTURE SYNDROME 1 LCCS LETHAL CONGENITAL CONTRACTURE SYNDROME 1 Lethal Congenital Contracture Syndrome 1 225281EU
3047805393.0 BARDET-BIEDL SYNDROME, BBS10-RELATED BBS10 BARDET BIEDL SYNDROME, BBS10 RELATED Bardet-Biedl Syndrome, BBS10-Related 225281AG
3047805375.0 ALSTROM SYNDROME ALSTROM ALSTROM SYNDROME Alstrom Syndrome 225281U
3047801301.0 BARE LYMPHOCYTE SYNDROME, CIITA BARELYMPH BARE LYMPHOCYTE SYNDROME, CIITA Bare Lymphocyte Syndrome, CIITA-Related 225281AI
3047803290.0 LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2E MUSCDYST2E LIMB GIRDLE MUSCULAR DYSTROPHY, TYPE 2E Limb-Girdle Muscular Dystrophy, Type 2E 225281FA
3047802020.0 CREATINE TRANSPORTER DEFECT CREATTRANDE CREATINE TRANSPORTER DEFECT Creatine Transporter Defect (Cerebral Creatine Deficiency Synd 1, X-Linked) 225281CA
3047805546.0 KRABBE DISEASE KRABBE KRABBE DISEASE Krabbe Disease 225281EN
3047805425.0 CHOROIDEREMIA CHOROIDEREM CHOROIDEREMIA Choroideremia 225281BA
3047803398.0 MAPLE SYRUP URINE DISEASE, TYPE 1A MAPLEUR1A MAPLE SYRUP URINE DISEASE, TYPE 1A Maple Syrup Urine Disease, Type 1A 225281FH
3047806892.0 ACYL-COA OXIDASE I DEFICIENCY ACYLCOAOX ACYL COA OXIDASE I DEFICIENCY Acyl-CoA Oxidase I Deficiency 225281L
3047801174.0 ARGININOSUCCINATE LYASE DEFICIENCY ARGININOSULD ARGININOSUCCINATE LYASE DEFICIENCY Argininosuccinate Lyase Deficiency 225281W
3047805552.0 LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENA LONGCHAIN3 LONG CHAIN 3 HYDROXYACYL COA DEHYDROGENA Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency 225281FF
3047803857.0 OMENN SYNDROME OMENSYN OMENN SYNDROME Omenn Syndrome, RAG2-Related 225281HD
3047802778.0 HERMANSKY-PUDLAK SYNDROME, HPS1-RELATED NTRAHERMANSK HERMANSKY PUDLAK SYNDROME, HPS1 RELATED Hermansky-Pudlak Syndrome, HPS1-Related 225281DX
3047802639.0 GLYCOGEN STORAGE DISEASE, TYPE 4 NTRAGSDT4 GLYCOGEN STORAGE DISEASE, TYPE 4 Glycogen Storage Disease, Type 4 225281DO
3047802295.0 ELLIS-VAN CREVELD SYNDOME ELLISVANCSYN ELLIS VAN CREVELD SYNDOME Ellis-van Creveld Syndrome, EVC-Related 225281CJ
3047800804.0 6-PYRUVOYL-TETRAHYDROPTERIN SYNTHASE 6PYRUTETASY 6 PYRUVOYL TETRAHYDROPTERIN SYNTHASE 6-Pyruvoyl-Tetrahydropterin Synthase (PTPS) Deficiency 225281F
3047803506.0 METHYLMALONIC ACIDURIA, MMAB-RELATED METHYLMMAB METHYLMALONIC ACIDURIA, MMAB RELATED Methylmalonic Aciduria, MMAB-Related 225281FR
3047801369.0 BETA-HEMOGLOBINOPATHIES BHEMOGLOB BETA HEMOGLOBINOPATHIES Beta-Hemoglobinopathies 225281AL
3047801643.0 CARNITINE PALMITOYLTRANSFERASE IA DEF CPTDEF1A CARNITINE PALMITOYLTRANSFERASE IA DEF Carnitine Palmitoyltransferase IA Deficiency 225281AS
3047802675.0 GUANIDINOACETATE METHYLTRANSFERASE DEFIC NTRAGUANIDIN GUANIDINOACETATE METHYLTRANSFERASE DEFIC Guanidinoacetate Methyltransferase Deficiency 225281DS
3047803894.0 OSTEOPETROSIS, INFANTILE MALIGNANT OSTPETROSIS OSTEOPETROSIS, INFANTILE MALIGNANT Osteopetrosis, Infantile Malignant, TCIRG1-Related 225281HG
3047801731.0 CHARCOT-MARIE-TOOTH DISEASE WITH DEAFNES CHARCOTMARIE CHARCOT MARIE TOOTH DISEASE WITH DEAFNES Charcot-Marie-Tooth Disease with Deafness, X-Linked 225281AX
3047801967.0 CONGENITAL DISORDER OF GLYCOSYLATION 1A CONDOGLYC1A CONGENITAL DISORDER OF GLYCOSYLATION 1A Congenital Disorder of Glycosylation 1A 225281BN
3047801780.0 CHOREOACANTHOCYTOSIS CHOREOACAN CHOREOACANTHOCYTOSIS Choreoacanthocytosis 225281AZ
3047804256.0 PRIMARY HYPEROXALURIA, TYPE 1 PRHYTY1 PRIMARY HYPEROXALURIA, TYPE 1 Primary Hyperoxaluria, Type 1 225281HR
3047805505.0 GAUCHER DISEASE GAUCHER GAUCHER DISEASE Gaucher Disease 225281DD
3047802281.0 EHLERS-DANLOS SYNDROME, TYPE VIIC EHLDANSYNT93 EHLERS DANLOS SYNDROME, TYPE VIIC Ehlers-Danlos Syndrome, Type VIIC 225281CI
3047802001.0 COSTEFF SYNDROME COSTEFFSYN COSTEFF SYNDROME Costeff Syndrome (3-Methylglutaconic Aciduria, Type 3) 225281BY
3047801732.0 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D CHARCOTMARIE CHARCOT MARIE TOOTH DISEASE, TYPE 4D Charcot-Marie-Tooth Disease, Type 4D 225281AY
3047805441.0 CONGENITAL FINNISH NEPHROSIS CONGFINNISH CONGENITAL FINNISH NEPHROSIS Congenital Finnish Nephrosis 225281BQ
3047803631.0 MUCOLIPIDOSIS, TYPE IV MUCOLIPID MUCOLIPIDOSIS, TYPE IV Mucolipidosis, Type IV 225281GA
3047803503.0 METHYLMALONIC ACIDURIA AND HOMOCYST CBID METHYLABID METHYLMALONIC ACIDURIA AND HOMOCYST CBID Methylmalonic Aciduria and Homocystinuria, Type cblD 225281FP
3047803729.0 NEURONAL CEROID LIPOFUSCINOSIS, CLN5 NEURCERLIP5 NEURONAL CEROID LIPOFUSCINOSIS, CLN5 Neuronal Ceroid Lipofuscinosis, CLN5-Related 225281GQ
3047803291.0 LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2I MUSCDYST2I LIMB GIRDLE MUSCULAR DYSTROPHY, TYPE 2I Limb-Girdle Muscular Dystrophy, Type 2I 225281FB
3047803445.0 METACHROMATIC LEUKODYSTROPHY, ARSA METALEUKO METACHROMATIC LEUKODYSTROPHY, ARSA Metachromatic Leukodystrophy, ARSA-Related 225281FM
3047804682.0 SEGAWA SYNDROME, TH-RELATED SEGSYND SEGAWA SYNDROME, TH RELATED Segawa Syndrome, TH-Related 225281IN
3047802638.0 GLYCOGEN STORAGE DISEASE, TYPE 3 NTRAGSDT3 GLYCOGEN STORAGE DISEASE, TYPE 3 Glycogen Storage Disease, Type 3 225281DN
3047805623.0 PYCNODYSOSTOSIS PYCNODY PYCNODY, PYCNODYSOSTOSIS Pycnodysostosis 225281HY
3047803518.0 MICROPHTHALMIA/ANOPHTHALMIA MICROPHANO MICROPHTHALMIA ANOPHTHALMIA Microphthalmia/Anophthalmia, VSX2-Related 225281FT
3047803954.0 PANEL NOTES PANELNOTE PANEL NOTES Panel Notes 225043B
3047804394.0 PYRUVATE DEHYDROGENASE DEFICIENCY X-LINK PYDEHDEFX PYRUVATE DEHYDROGENASE DEFICIENCY X LINK Pyruvate Dehydrogenase Deficiency X-Link 225281IA
3047803636.0 MUCOPOLYSACCHARIDOSIS, TYPE I MUCOPOLYSAC1 MUCOPOLYSACCHARIDOSIS, TYPE I Mucopolysaccharidosis, Type I (Hurler Syndrome) 225281GB
3047801812.0 CITRULLINEMIA, TYPE 1 CITRULLINEMI CITRULLINEMIA, TYPE 1 Citrullinemia, Type 1 225281BF
3047803730.0 NEURONAL CEROID LIPOFUSCINOSIS, CLN6 NEURCERLIP6 NEURONAL CEROID LIPOFUSCINOSIS, CLN6 Neuronal Ceroid Lipofuscinosis, CLN6-Related 225281GR
3047804393.0 PYRUVATE DEHYDROGENASE DEFICIENCY AUTOSO PYDEHDEFA PYRUVATE DEHYDROGENASE DEFICIENCY AUTOSO Pyruvate Dehydrogenase Deficiency, PDHB-Related 225281HZ
3047804556.0 RETINITIS PIGMENTOSA 25 RETPIG25 RETINITIS PIGMENTOSA 25 Retinitis Pigmentosa 25 225281IC
3047805191.0 USHER SYNDROME, TYPE 3 USHT3 USHER SYNDROME, TYPE 3 Usher Syndrome, Type 3 225281JD
3047805612.0 PENDRED SYNDROME PENDREDSYN PENDREDSYN, SYNDROME Pendred Syndrome 225281HH
3047802641.0 GLYCOGEN STORAGE DISEASE, TYPE 7 NTRAGSDT7 GLYCOGEN STORAGE DISEASE, TYPE 7 Glycogen Storage Disease, Type 7 225281DQ
3047803691.0 MYONEUROGASTROINTESTINAL ENCEPHALOPATHY MYPGASINTENC MYONEUROGASTROINTESTINAL ENCEPHALOPATHY Myoneurogastrointestinal Encephalopathy (MNGIE) 225281GM
3047802392.0 FACTOR IX DEFICIENCY FACTORIXDEF FACTOR IX DEFICIENCY Factor IX Deficiency 225281CO
3047804266.0 PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLES PROFAMINTRA PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLES Progressive Familial Intrahepatic Choles 225281HV
3047801370.0 BETA-KETOTHIOLASE DEFICIENCY BKETODEF BETA KETOTHIOLASE DEFICIENCY Beta-Ketothiolase Deficiency 225281EM
3047803246.0 LEBER CONGENITAL AMAUROSIS 2 LEBER LEBER CONGENITAL AMAUROSIS 2 Leber Congenital Amaurosis 2 225281EP
3047805509.0 GRACILE SYNDROME GRACILE GRACILE SYNDROME GRACILE Syndrome 225281DR
3047801934.0 COMBINED OXIDATIVE PHOSPHORYLATION DEF 3 COMBOXIPHD3 COMBINED OXIDATIVE PHOSPHORYLATION DEF 3 Combined Oxidative Phosphorylation Deficiency 3 225281BI
3047803505.0 METHYLMALONIC ACIDURIA, MMAA-RELATED METHYLMMAA METHYLMALONIC ACIDURIA, MMAA RELATED Methylmalonic Aciduria, MMAA-Related 225281FQ
3047803734.0 NEURONAL CEROID LIPOFUSCINOSIS, TPP1-REL NEURCRLITPP1 NEURONAL CEROID LIPOFUSCINOSIS, TPP1 REL Neuronal Ceroid Lipofuscinosis, TPP1-Related 225281GV
3047800949.0 ALPHA THALASSEMIA INTELLECTUAL DIS SYNDR ATHALASSINTD ALPHA THALASSEMIA INTELLECTUAL DIS SYNDROME Alpha-Thalassemia Intellectual Disability Syndrome 225281Q
3047805501.0 GALACTOKINASE DEFICIENCY GALACTODEF GALACTOKINASE DEFICIENCY Galactokinase Deficiency (Galactosemia, Type II) 225281DB
3047801224.0 AUTOSOMAL RECESSIVE SPASTIC ATAXIA OF CH AUTORSAC AUTOSOMAL RECESSIVE SPASTIC ATAXIA OF CH Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay 225281AD
3047801991.0 CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNES CORNDYSPERDF CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNES Corneal Dystrophy and Perceptive Deafness 225281BW
3047804281.0 PROPIONIC ACIDEMIA, PCCA-RELATED PCCAREPROACI PROPIONIC ACIDEMIA, PCCA RELATED Propionic Acidemia, PCCA-Related 225281HW
3047802248.0 DYSTROPHIC EPIDERMOLYSIS BULLOSA DYSTEPICBU DYSTROPHIC EPIDERMOLYSIS BULLOSA Dystrophic Epidermolysis Bullosa, COL7A1-Related 225281CH
3047803399.0 MAPLE SYRUP URINE DISEASE, TYPE 1B MAPLEUR1B MAPLE SYRUP URINE DISEASE, TYPE 1B Maple Syrup Urine Disease, Type 1B 225281FI
3047805371.0 ALPHA-MANNOSIDOSIS AMANNOSID ALPHA MANNOSIDOSIS Alpha-Mannosidosis 225281O
3047805331.0 ZELLWEGER SPECTRUM DISORDERS, PEX6-RELAT ZELLWEGE6 ZELLWEGER SPECTRUM DISORDERS, PEX6 RELAT Zellweger Spectrum Disorders, PEX6-Related 225281JM
3047800785.0 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFIC 3METHCOACAR2 3 METHYLCROTONYL COA CARBOXYLASE 2 DEFICIENCY 3-Methylcrotonyl-CoA Carboxylase 2 Deficiency 225281D
3047804208.0 POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL REC POLYCYSKID POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL REC Polycystic Kidney Disease, Autosomal Recessive 225281HK
3047804717.0 SEVERE COMBINED IMMUNODEFICIENCY, X-LINK SEVIMMXL SEVERE COMBINED IMMUNODEFICIENCY, X LINK Severe Combined Immunodeficiency, X-Linked 225281JJ
3047805476.0 FACTOR XI DEFICIENCY FACTORXI FACTOR XI DEFICIENCY Factor XI Deficiency 225281CP
3047804566.0 RHIZOMELIC CHONDRODYSPLASIA PUNCTATA 3 RHCHPUTY3 RHIZOMELIC CHONDRODYSPLASIA PUNCTATA 3 Rhizomelic Chondrodysplasia Punctata, Type 3 225281IH
3047805189.0 USHER SYNDROME, TYPE 1F USHT1F USHER SYNDROME, TYPE 1F Usher Syndrome, Type 1F 225281JB
3047805661.0 STEROID-RESISTANT NEPHROTIC SYNDROME SRNS SRNS, SYNDROME Steroid-Resistant Nephrotic Syndrome 225281IU
3047805459.0 D-BIFUNCTIONAL PROTEIN DEFICIENCY DBIFUNCPROT D BIFUNCTIONAL PROTEIN DEFICIENCY D-Bifunctional Protein Deficiency 225281CD
3047802635.0 GLYCOGEN STORAGE DISEASE, TYPE 1A GLYCSD1A GLYCOGEN STORAGE DISEASE, TYPE 1A Glycogen Storage Disease, Type 1A 225281DK
3047805478.0 HORIZON 274 CARRIER SCREEN FAMILIAL DYSAUTONOMIA FAMDYSA HORIZON 274 CARRIER SCREEN FAMILIAL DYSAUTONOMIA Familial Dysautonomia 225281CQ
3047801795.0 CHRONIC GRANULOMATOUS DISEASE, X-LINKED CGD CHRONIC GRANULOMATOUS DISEASE, X LINKED Chronic Granulomatous Disease, X-Linked 225281BC
3047805597.0 ORNITHINE TRANSCARBAMYLASE DEFICIENCY OTD OTD, DEFICIENCY Ornithine Transcarbamylase Deficiency 225281HF
3047802779.0 HERMANSKY-PUDLAK SYNDROME, HPS3-RELATED NTRAHERPUD HERMANSKY PUDLAK SYNDROME, HPS3 RELATED Hermansky-Pudlak Syndrome, HPS3-Related 225281DY
3047805609.0 PDF REPORT PDF PDF, REPORT PDF 225043E
3047805649.0 SJOGREN-LARSSON SYNDROME SJOG SJOG, SYNDROME Sjogren-Larsson Syndrome 225281IQ
3047801978.0 CONGENITAL NEUTROPENIA, VPS45-RELATED CONGNEUTRVP CONGENITAL NEUTROPENIA, VPS45 RELATED Congenital Neutropenia, VPS45-Related 225281BV
3047804213.0 PONTOCEREBELLAR HYPOPLASIA, TYPE 1A PONTYPE1A PONTOCEREBELLAR HYPOPLASIA, TYPE 1A Pontocerebellar Hypoplasia, Type 1A 225281HM
3047803628.0 MUCOLIPIDOSIS II/IIIA MUCOLIPID MUCOLIPIDOSIS II IIIA Mucolipidosis II/IIIA 225281FY
3047801977.0 CONGENITAL NEUTROPENIA, HAX1-RELATED CONGNEUHAX CONGENITAL NEUTROPENIA, HAX1 RELATED Congenital Neutropenia, HAX1-Related 225281BU
3047801975.0 CONGENITAL MYASTHENIC SYNDROME, CHRNE CONGMYASNCH CONGENITAL MYASTHENIC SYNDROME, CHRNE Congenital Myasthenic Syndrome, CHRNE-Related 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 Combined Oxidative Phosphorylation Deficiency 1 225281BJ
3047800964.0 ALPORT SYNDROME, X-LINKED ALPORTSY ALPORT SYNDROME, X LINKED Alport Syndrome, X-Linked 225281T
3047805363.0 ABETALIPOPROTEINEMIA ABETALIPO ABETALIPOPROTEINEMIA Abetalipoproteinemia 225281G
3047800962.0 ALPORT SYNDROME, COL4A3-RELATED ALPORTSY ALPORT SYNDROME, COL4A3 RELATED Alport Syndrome, COL4A3-Related 225281R
3047804587.0 ROBERTS SYNDROME ROBSYN ROBERTS SYNDROME Roberts Syndrome 225281IJ
3047803732.0 NEURONAL CEROID LIPOFUSCINOSIS, MFSD8 NEURCERLIPD8 NEURONAL CEROID LIPOFUSCINOSIS, MFSD8 Neuronal Ceroid Lipofuscinosis, MFSD8-Related 225281GT