Carrier

Carrier screening is recommended for all patients who are pregnant or considering pregnancy. Carrier screening identifies patients who are at increased risk of having a child affected with a genetic disorder, providing actionable information for the next steps of their reproductive journey.

Select one of our pre-curated panels or build your own custom panel by adding individual genes. Genes may also be removed from pre-curated panels.

287 genes

Invitae Comprehensive Carrier Screen

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This carrier screen panel includes up to 287 genes and is appropriate for patients of all ethnicities who want a comprehensive carrier screen. Disorders include: 3-methylglutaconic aciduria, A-T, Abetalipoproteinemia, ACAD9 deficiency, Achondrogenesis, Achromatopsia, Acrodermatitis enteropathica, ADA deficiency, Adenosine deaminase deficiency, Adrenoleukodystrophy, Adult polyglucosan body disease, Aicardi-Goutieres syndrome, ALD, Alpha-mannosidosis, Alpha-thalassemia, Alport syndrome, Alström syndrome, Andermann syndrome, Arginase deficiency, Argininosuccinic aciduria, Aromatase deficiency, Arts syndrome, Asparagine synthetase deficiency, Aspartylglucosaminuria, Ataxia with vitamin E deficiency, Ataxia-telangiectasia, Atelosteogenesis, Autoimmune polyendocrinopathy with candidiasis and ectodermal dysplasia, Autosomal recessive deafness, Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), Bardet-Biedl syndrome, Bartter syndrome, BBS, Beta-ketothiolase deficiency, Beta-thalassemia, BH4 deficiency, Bjornstad syndrome, Bloom syndrome, BMD, Calpainopathy, CAMT, Canavan disease, Carbamoylphosphate synthetase deficiency, Carnitine palmitoyltransferase deficiency, Carpenter syndrome, Cartilage-hair hypoplasia-anauxetic dysplasia spectrum disorders, CDG, Cerebroocular dysplasia-muscular dystrophy syndrome, Cerebrotendinous xanthomatosis, CF, Charcot-Marie-Tooth disease, Cholesterol ester storage disease, Chorea-acanthocytosis, Choroideremia, Chronic granulomatous disease, Citrin deficiency, Citrullinemia, Clinical anophthalmia, CLN, CMT, COACH syndrome, Cockayne syndrome, Cohen syndrome, Combined malonic and methylmalonic aciduria, Combined oxidative phosphorylation deficiency, Combined pituitary hormone deficiency, Combined SAP deficiency, Congenital adrenal hyperplasia, Congenital amegakaryocytic thrombocytopenia, Congenital disorder of glycoslylation, Congenital disorder of glycosylation, Congenital Finnish nephrosis, Congenital ichthyosis, Congenital insensitivity to pain with anhidrosis, Congenital myasthenic syndrome, Congenital neutropenia, Corneal dystrophy and perceptive deafness, Corticosterone methyloxidase deficiency, Costeff optic atrophy, Creatine transporter deficiency, Cystic fibrosis, Cystinosis, D-bifunctional protein deficiency, Dehydrogenase deficiency, DFNB1 nonsyndromic hearing loss and deafness, DFNB77, Diatrophic dysplasia, Dihydrolipoamide dehydrogenase deficiency, Dilated cardiomyopathy, Distal hereditary motor neuropathy, DLD deficiency, DMD, Duchenne/Becker muscular dystrophy, Dysferlinopathy, Dyskeratosis congenita, Dystroglycanopathy, Dystrophic epidermolysis bullosa, Dystrophinopathy, Ehlers-Danlos syndrome, Ellis-van Creveld syndrome, Emery-Dreifuss muscular dystrophy, Enhanced S-cone syndrome, Ethylmalonic encephalopathy, EVC syndrome, FA, Fabry disease, Factor IX deficiency, Familial dysautonomia, Familial hypercholesterolemia, Familial hyperinsulinism, Fanconi anemia, FHI, Fragile X syndrome, Fukuyama congenital muscular dystrophy, Fumarate hydratase deficiency, FX syndrome, GA, Galactokinase deficiency, Galactosemia, Gaucher disease, Gitelman syndrome, Glutaric acidemia, Glutaric aciduria, Glycine encephalopathy, Glycogen storage disease, GRACILE syndrome, GSD, Guanidinoacetate methyltransferase deficiency, HBB-related hemoglobinopathies, Hemophilia B, Hereditary fructose intolerance, Hereditary hemochromatosis, Hermansky-Pudlak syndrome, Hexosaminidase A deficiency, HMG-CoA lyase deficiency, Holocarboxylase synthetase deficiency, Homocystinuria, HPS, Hunter syndrome, Hurler syndrome, Hurler-Scheie syndrome, Hydrolethalus syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome, Hypohidrotic ectodermal dysplasia, Hypophosphatasia, Inclusion body myopathy, Infantile cerebral and cerebellar atrophy, Isovaleric acidemia, JEB, Joubert syndrome, Junctional epidermolysis bullosa, Krabbe disease, LAMA2-related muscular dystrophy, Laminin alpha 2 deficiency, LCA, Leber congenital amaurosis, Leigh syndrome, Lethal arthrogryposis with anterior horn cell disease, Lethal congenital contracture syndrome, Leukoencephalopathy with vanishing white matter, LGMD, Limb-girdle muscular dystrophy, Lipoamide dehydrogenase deficiency, Lipoid congenital adrenal hyperplasia, Lipoprotein lipase deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency, Lysinuric protein intolerance, Lysosomal acid lipase deficiency, Major histocompatibility complex class II deficiency, Maple syrup urine disease, Meckel syndrome, Medium chain acyl-CoA dehydrogenase (MCAD) deficiency, Megalencephalic leukoencephalopathy with subcortical cysts, Menkes disease, Metachromatic leukodystrophy, Methylmalonic acidemia, Microphthalmia, Mitochondrial complex deficiency, Mitochondrial complex I deficiency, Mitochondrial DNA depletion syndrome, Mitochondrial myopathy and sideroblastic anemia, Mitochondrial neurogastrointestinal encephalopathy (MNGIE) disease, MMA, Morquio syndrome, MPS, MSUD, Mucolipidosis, Mucopolysaccharidosis, Multiple metaphyseal dysplasia, Multiple sulfatase deficiency, Muscle eye brain disease, N-acetylglutamate synthase deficiency, NCL, Nemaline myopathy, Nephrogenic diabetes insipidus, Nephrotic syndrome, Neu-Laxova syndrome, Neuronal ceroid-lipofuscinosis, Niemann-Pick disease, Nijmegen breakage syndrome, Non-syndromic hearing loss, Northern epilepsy, Occipital horn syndrome, Odonto-onycho-dermal dysplasia, Omenn syndrome, Ornithine aminotransferase deficiency, Ornithine transcarbamylase (OTC) deficiency, Osteopetrosis, PCH, PDH deficiency, PDHC deficiency, Pendred syndrome, Peroxisomal acyl-CoA oxidase deficiency, Phenylalanine hydroxylase deficiency, Phenylketonuria (PKU), Phosphoglycerate dehydrogenase deficiency, Phosphoribosylpyrophosphate synthetase superactivity, PKD, Polycystic kidney disease, Polymicrogyria, POMGNT1-related disorders, Pompe disease, Pontocerebellar hypoplasia, Postnatal progressive microcephaly with seizures and brain atrophy, Primary carnitine deficiency, Primary ciliary dyskinesia, Primary hyperoxaluria, Progressive familial intrahepatic cholestasis, Propionic acidemia, PRPP, PRS, Pulmonary fibrosis and/or bone marrow failure, Pycnodysostosis, Pyruvate carboxylase deficiency, RCDP, RCP, Refsum disease, Renal tubular acidosis with deafness, Retinitis pigmentosa, Rhizomelic chondrodysplasia punctata, Roberts syndrome, RP, Sandhoff disease, Sanfilippo syndrome, Scheie syndrome, Schimke immuno-osseous dysplasia, Schopf-Schulz-Passarge syndrome, Severe combined immune deficiency, Severe congenital neutropenia, Sialic acid storage disorders, Sickle cell disease, Sjögren-Larsson syndrome, SLO, SLOS, SMA, Smith-Lemli-Opitz syndrome, Spastic paraplegia, Spinal muscular atrophy, Spondylothoracic dysostosis, Steel syndrome, Steroid-resistant nephrotic syndrome, Stüve-Wiedemann syndrome, Tay-Sachs disease, Tetrahydrobiopterin deficiency, Transient infantile liver failure, Tyrosine hydroxylase deficiency, Tyrosinemia, Usher syndrome, Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency, Walker-Warburg syndrome, Wilson disease, Wolman disease

GENES TESTED:

ABCB11 ABCC8 ABCD1 ACAD9 ACADM ACADVL ACAT1 ACOX1 ACSF3 ADA ADAMTS2 ADGRG1 AGA AGL AGPS AGXT AIRE ALDH3A2 ALDOB ALG6 ALMS1 ALPL AMT AQP2 ARG1 ARSA ARSB ASL ASNS ASPA ASS1 ATM ATP6V1B1 ATP7A ATP7B ATRX BBS1 BBS10 BBS12 BBS2 BCKDHA BCKDHB BCS1L BLM BSND CAPN3 CBS CDH23 CEP290 CERKL CFTR CHM CHRNE CIITA CLN3 CLN5 CLN6 CLN8 CLRN1 CNGB3 COL27A1 COL4A3 COL4A4 COL4A5 COL7A1 CPS1 CPT1A CPT2 CRB1 CTNS CTSK CYBA CYBB CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP27A1 DBT DCLRE1C DHCR7 DHDDS DLD DMD DNAH5 DNAI1 DNAI2 DYSF EDA EIF2B5 EMD ERCC6 ERCC8 ESCO2 ETFA ETFDH ETHE1 EVC EVC2 EYS F9 FAH FAM161A FANCA FANCC FANCG FH FKRP FKTN FMR1 G6PC GAA GALC GALK1 GALT GAMT GBA GBE1 GCDH GFM1 GJB1 GJB2 GLA GLB1 GLDC GLE1 GNE GNPTAB GNPTG GNS GRHPR HADHA HAX1 HBA1, HBA2 HBB HEXA HEXB HGSNAT HLCS HMGCL HOGA1 HPS1 HPS3 HSD17B4 HSD3B2 HYAL1 HYLS1 IDS IDUA IKBKAP IL2RG IVD KCNJ11 LAMA2 LAMA3 LAMB3 LAMC2 LCA5 LDLR LDLRAP1 LHX3 LIFR LIPA LOXHD1 LPL LRPPRC MAN2B1 MCOLN1 MED17 MESP2 MFSD8 MKS1 MLC1 MMAA MMAB MMACHC MMADHC MPI MPL MPV17 MTHFR MTM1 MTRR MTTP MUT MYO7A NAGLU NAGS NBN NDRG1 NDUFAF5 NDUFS6 NEB NPC1 NPC2 NPHS1 NPHS2 NR2E3 NTRK1 OAT OPA3 OTC PAH PC PCCA PCCB PCDH15 PDHA1 PDHB PEX1 PEX10 PEX12 PEX2 PEX6 PEX7 PFKM PHGDH PKHD1 PMM2 POMGNT1 PPT1 PROP1 PRPS1 PSAP PTS PUS1 PYGM RAB23 RAG2 RAPSN RARS2 RDH12 RMRP RPE65 RPGRIP1L RS1 RTEL1 SACS SAMHD1 SEPSECS SGCA SGCB SGCG SGSH SLC12A3 SLC12A6 SLC17A5 SLC22A5 SLC25A13 SLC25A15 SLC26A2 SLC26A4 SLC35A3 SLC37A4 SLC39A4 SLC4A11 SLC6A8 SLC7A7 SMARCAL1 SMN1 SMPD1 STAR SUMF1 TAT TCIRG1 TECPR2 TFR2 TGM1 TH TMEM216 TPP1 TRMU TSFM TTPA TYMP USH1C USH2A VPS13A VPS13B VPS45 VRK1 VSX2 WNT10A XPA XPC ZFYVE26

46 genes

Invitae Broad Pan-Ethnic Carrier Screen

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The Invitae Broad Pan-Ethnic Carrier Screen includes 46 genes associated with disorders that may have a severe presentation and are prevalent across all ethnicities. Disorders include: Adrenoleukodystrophy, ALD, Alpha-thalassemia, Beta-thalassemia, Bloom syndrome, BMD, Canavan disease, Cerebroocular dysplasia-muscular dystrophy syndrome, CF, Citrullinemia, CLN, Congenital disorder of glycosylation, Cystic fibrosis, Dihydrolipoamide dehydrogenase deficiency, Dilated cardiomyopathy, DMD, Duchenne/Becker muscular dystrophy, Dystroglycanopathy, Dystrophinopathy, FA, Familial dysautonomia, Familial hyperinsulinism, Fanconi anemia, Fragile X syndrome, Fukuyama congenital muscular dystrophy, FX syndrome, Galactosemia, Gaucher disease, Glutaric acidemia, Glycogen storage disease, HBB-related hemoglobinopathies, Hexosaminidase A deficiency, Hurler syndrome, Hurler-Scheie syndrome, Joubert syndrome, Krabbe disease, Maple syrup urine disease, Medium chain acyl-CoA dehydrogenase (MCAD) deficiency, MPS, MSUD, Mucolipidosis, Mucopolysaccharidosis, NCL, Nemaline myopathy, Neuronal ceroid-lipofuscinosis, Niemann-Pick disease, Ornithine transcarbamylase (OTC) deficiency, Pendred syndrome, Phenylalanine hydroxylase deficiency, Phenylketonuria (PKU), Polycystic kidney disease, Pompe disease, Refsum disease

GENES TESTED:

ABCC8 ABCD1 ACADM ASPA ASS1 BCKDHA BCKDHB BLM CFTR CLN3 CLRN1 DHCR7 DLD DMD FAH FANCC FKTN FMR1 G6PC GAA GALC GALT GBA GJB2 HBA1, HBA2 HBB HEXA IDUA IKBKAP IL2RG MCOLN1 NEB OTC PAH PCDH15 PEX1 PEX6 PEX7 PKHD1 PMM2 SLC26A4 SMN1 SMPD1 TMEM216 USH2A

3 genes

Invitae Pan-Ethnic Carrier Screen

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The Invitae Pan-Ethnic Carrier Screen includes three genes associated with cystic fibrosis (CF), spinal muscular atrophy (SMA), and fragile X syndrome, which are common, severe, disorders seen across all ethnicities.

GENES TESTED:

CFTR FMR1 SMN1

Gene
A
ABCB11

Progressive familial intrahepatic cholestasis type 2

ABCC8

Familial hyperinsulinism (ABCC8-related)

ABCD1

X-linked adrenoleukodystrophy

ACAD9

ACAD9 deficiency

ACADM

Medium chain acyl-CoA dehydrogenase (MCAD) deficiency

ACADVL

Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency

ACAT1

Beta-ketothiolase deficiency

ACOX1

Peroxisomal acyl-CoA oxidase deficiency

ACSF3

Combined malonic and methylmalonic aciduria (ACSF3-related)

ADA

Adenosine deaminase deficiency

ADAMTS2

Ehlers-Danlos syndrome type VIIC

ADGRG1

Polymicrogyria (ADGRG1-related)

AGA

Aspartylglucosaminuria

AGL

Glycogen storage disease type III

AGPS

Rhizomelic chondrodysplasia punctata type 3

AGXT

Primary hyperoxaluria type 1

AIRE

Autoimmune polyendocrinopathy with candidiasis and ectodermal dysplasia

ALDH3A2

Sjögren-Larsson syndrome

ALDOB

Hereditary fructose intolerance

ALG6

Congenital disorder of glycosylation (ALG6-related)

ALMS1

Alström syndrome

ALPL

Hypophosphatasia

AMT

Glycine encephalopathy (AMT-related)

AQP2

Nephrogenic diabetes insipidus (AQP2-related)

ARG1

Arginase deficiency

ARSA

Metachromatic leukodystrophy

ARSB

Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome)

ASL

Argininosuccinic aciduria

ASNS

Asparagine synthetase deficiency

ASPA

Canavan disease

ASS1

Citrullinemia type 1

ATM

Ataxia-telangiectasia

ATP6V1B1

Renal tubular acidosis with deafness (ATP6V1B1-related)

ATP7A

Menkes disease/ ATP7A-related disorders (including Occipital horn syndrome and Distal hereditary motor neuropathy)

ATP7B

Wilson disease

ATRX

Alpha-thalassemia X-linked intellectual disability syndrome

B
BBS1

Bardet-Biedl syndrome (BBS1-related)

BBS10

Bardet-Biedl syndrome (BBS10-related)

BBS12

Bardet-Biedl syndrome (BBS12-related)

BBS2

Bardet-Biedl syndrome (BBS2-related)

BCKDHA

Maple syrup urine disease (MSUD) type 1A

BCKDHB

Maple syrup urine disease (MSUD) type 1B

BCS1L

GRACILE syndrome/ BCS1L-related disorders (including Mitochondrial complex III deficiency, Bjornstad syndrome, Leigh syndrome)

BLM

Bloom syndrome

BSND

Bartter syndrome type IV

BTD

Biotinidase deficiency

C
CAPN3

Limb-girdle muscular dystrophy type 2A/Calpainopathy

CBS

Homocystinuria (CBS-related)

CDH23

Usher syndrome type ID

CEP290

Leber congenital amaurosis 10/ CEP290-related disorders

CERKL

Retinitis pigmentosa 26

CFTR

Cystic fibrosis

CHM

Choroideremia

CHRNE

Congenital myasthenic syndrome (CHRNE-related)

CIITA

Major histocompatibility complex class II deficiency

CLN3

Neuronal ceroid-lipofuscinosis (CLN3-related)

CLN5

Neuronal ceroid-lipofuscinosis (CLN5-related)

CLN6

Neuronal ceroid-lipofuscinosis (CLN6-related)

CLN8

Neuronal ceroid-lipofuscinosis/ Northern epilepsy (CLN8-related)

CLRN1

Usher syndrome type IIIA

CNGB3

Achromatopsia (CNGB3-related)

COL27A1

Steel Syndrome

COL4A3

Alport Syndrome (COL4A3-related)

COL4A4

Alport Syndrome (COL4A4-related)

COL4A5

Alport Syndrome, X-linked (COL4A5-related)

COL7A1

Dystrophic epidermolysis bullosa (COL7A1-related)

CPS1

Carbamoylphosphate synthetase I deficiency

CPT1A

Carnitine palmitoyltransferase I deficiency

CPT2

Carnitine palmitoyltransferase II deficiency

CRB1

Leber congenital amaurosis 8/ CRB1-related disorders

CTNS

Cystinosis

CTSK

Pycnodysostosis

CYBA

Chronic granulomatous disease (CYBA-related)

CYBB

Chronic granulomatous disease (CYBB-related)

CYP11B1

11-beta-hydroxylase-deficient congenital adrenal hyperplasia

CYP11B2

Corticosterone methyloxidase deficiency

CYP17A1

17-alpha-hydroxylase-deficient congenital adrenal hyperplasia

CYP19A1

Aromatase deficiency

CYP27A1

Cerebrotendinous xanthomatosis

D
DBT

Maple syrup urine disease (MSUD) type 2

DCLRE1C

Severe combined immune deficiency (DCLRE1C-related)

DHCR7

Smith-Lemli-Opitz syndrome

DHDDS

DHDDS-related disorders (including Congenital disorder of glycoslylation/ Retinitis pigmentosa 59)

DLD

Dihydrolipoamide dehydrogenase deficiency (DLD)

DMD

DMD-related dystrophinopathy (Including Duchenne/Becker muscular dystrophy and Dilated cardiomyopathy)

DNAH5

Primary Ciliary Dyskinesia (DNAH5-related)

DNAI1

Primary Ciliary Dyskinesia (DNAI1-related)

DNAI2

Primary Ciliary Dyskinesia (DNAI2-related)

DYSF

Dysferlinopathy (including Limb-girdle muscular dystrophy type 2B)

E
EDA

Hypohidrotic ectodermal dysplasia (EDA-related)

EIF2B5

Leukoencephalopathy with vanishing white matter (EIF2B5-related)

EMD

Emery-Dreifuss muscular dystrophy (EMD-related)

ERCC6

Cockayne syndrome type B

ERCC8

Cockayne syndrome type A

ESCO2

Roberts syndrome

ETFA

Glutaric acidemia type II (ETFA-related)

ETFDH

Glutaric acidemia type II (ETFDH-related)

ETHE1

Ethylmalonic encephalopathy

EVC

Ellis-van Creveld syndrome (EVC-related)

EVC2

Ellis-van Creveld syndrome (EVC2-related)

EYS

Retinitis pigmentosa 25

F
F11

Factor XI deficiency (Hemophilia C)

F2

Prothrombin-related thrombophilia

F5

Factor V Leiden thrombophilia

F9

Factor IX deficiency (Hemophilia B)

FAH

Tyrosinemia type I

FAM161A

Retinitis Pigmentosa 28

FANCA

Fanconi anemia type A

FANCC

Fanconi anemia type C

FANCG

Fanconi anemia type G

FH

Fumarate hydratase deficiency

FKRP

Walker-Warburg syndrome/ FKRP-related disorders

FKTN

Walker-Warburg syndrome/ FKTN-related disorders

FMR1

Fragile X syndrome

G
G6PC

Glycogen storage disease type Ia

G6PD

Glucose-6-phosphate dehydrogenase (G6PD) deficiency

GAA

Glycogen storage disease type II (Pompe disease)

GALC

Krabbe disease

GALK1

Galactokinase deficiency galactosemia

GALT

Galactosemia

GAMT

Guanidinoacetate methyltransferase deficiency

GBA

Gaucher disease

GBE1

Glycogen storage disease type IV/ Adult polyglucosan body disease

GCDH

Glutaric acidemia type I

GFM1

Combined oxidative phosphorylation deficiency (GFM1-related)

GJB1

Charcot-Marie-Tooth disease, X-linked (GJB1-related)

GJB2

GJB2-related DFNB1 nonsyndromic hearing loss and deafness

GLA

Fabry disease

GLB1

Mucopolysaccharidosis type IVB (Morquio B syndrome)/ GM1 gangliosidosis

GLDC

Glycine encephalopathy (GLDC-related)

GLE1

Lethal congenital contracture syndrome 1 / Lethal arthrogryposis with anterior horn cell disease

GNE

Inclusion body myopathy 2

GNPTAB

Mucolipidosis type II/III (GNPTAB-related)

GNPTG

Mucolipidosis type III (GNPTG-related)

GNS

Mucopolysaccharidosis type IIID (Sanfilippo syndrome)

GP9

Bernard-Soulier syndrome (GP9-related)

GRHPR

Primary hyperoxaluria type 2

H
HADHA

Long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency

HAX1

Congenital neutropenia (HAX1-related)

HBA1, HBA2

Alpha-thalassemia

HBB

HBB-related hemoglobinopathies (including Beta-thalassemia and Sickle cell disease)

HEXA

Tay-Sachs disease/ Hexosaminidase A deficiency

HEXB

Sandhoff disease

HFE

Hereditary hemochromatosis (HFE-related)

HFE2

Hereditary hemochromatosis (HFE2-related)

HGD

Alkaptonuria

HGSNAT

Mucopolysaccharidosis type IIIC (Sanfilippo syndrome)/ Retinitis pigmentosa 73

HLCS

Holocarboxylase synthetase deficiency

HMGCL

3-hydroxy-3-methylglutarayl-CoA (HMG-CoA) lyase deficiency

HOGA1

Primary hyperoxaluria type 3

HPS1

Hermansky-Pudlak syndrome (HPS1-related)

HPS3

Hermansky-Pudlak syndrome (HPS3-related)

HSD17B4

D-bifunctional protein deficiency

HSD3B2

3-beta-hydroxysteroid dehydrogenase type II deficiency (Congenital adrenal hyperplasia)

HYAL1

Mucopolysaccharidosis type IX

HYLS1

Hydrolethalus syndrome type 1

I
IDS

Mucopolysaccharidosis type II (Hunter syndrome)

IDUA

Mucopolysaccharidosis type I (includes Hurler, Hurler-Scheie, and Scheie syndromes)

IKBKAP

Familial dysautonomia

IL2RG

X-linked severe combined immunodeficiency (X-SCID)

IVD

Isovaleric acidemia

J
K
KCNJ11

Familial hyperinsulinism (KCNJ11-related)

L
LAMA2

LAMA2-related muscular dystrophy

LAMA3

Junctional epidermolysis bullosa (LAMA3-related)

LAMB3

Junctional epidermolysis bullosa (LAMB3-related)

LAMC2

Junctional epidermolysis bullosa (LAMC2-related)

LCA5

Leber congenital amaurosis 5

LDLR

Familial hypercholesterolemia (LDLR-related)

LDLRAP1

Familial hypercholesterolemia (LDLRAP1-related)

LHX3

Combined pituitary hormone deficiency (LHX3-related)

LIFR

Stüve-Wiedemann syndrome

LIPA

Lysosomal acid lipase deficiency (includes Wolman disease and Cholesterol ester storage disease)

LOXHD1

Autosomal recessive deafness 77 (DFNB77)

LPL

Lipoprotein lipase deficiency

LRPPRC

Leigh syndrome, French Canadian type

M
MAN2B1

Alpha-mannosidosis

MCCC1

3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency (MCC1-related)

MCCC2

3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency (MCC2-related)

MCOLN1

Mucolipidosis type IV

MED17

Postnatal progressive microcephaly with seizures and brain atrophy/ Infantile cerebral and cerebellar atrophy (MED17-related)

MEFV

Familial mediterranean fever

MESP2

Spondylothoracic dysostosis

MFSD8

Neuronal ceroid-lipofuscinosis (MFSD8-related)

MKS1

MKS1-related disorders

MLC1

Megalencephalic leukoencephalopathy with subcortical cysts type 1

MMAA

Methylmalonic acidemia (MMAA-related)

MMAB

Methylmalonic acidemia (MMAB-related)

MMACHC

Methylmalonic acidemia with homocystinuria, cobalamin C type

MMADHC

Methylmalonic acidemia with homocystinuria, cobalamin D type

MPI

Congenital disorder of glycosylation (MPI-related)

MPL

Congenital amegakaryocytic thrombocytopenia

MPV17

Mitochondrial DNA depletion syndrome

MTHFR

Homocystinuria due to MTHFR deficiency

MTM1

X-linked myotubular myopathy

MTRR

Homocystinuria, cobalamin E type

MTTP

Abetalipoproteinemia

MUT

Methylmalonic acidemia (MUT-related)

MYO7A

Usher syndrome type IB/ MYO7A-related disorders

N
NAGLU

Mucopolysaccharidosis type IIIB

NAGS

N-Acetylglutamate synthase deficiency

NBN

Nijmegen breakage syndrome

NDRG1

Charcot-Marie-Tooth disease (NDRG1-related)

NDUFAF5

Mitochondrial complex I deficiency/ Leigh syndrome (NDUFAF5-related)

NDUFS6

Mitochondrial complex I deficiency/ Leigh syndrome (NDUFS6- related)

NEB

Nemaline myopathy 2

NPC1

Niemann-Pick disease type C (NPC1-related)

NPC2

Niemann-Pick disease type C (NPC2-related)

NPHS1

Nephrotic syndrome/ Congenital Finnish nephrosis (NPHS1-related)

NPHS2

Nephrotic syndrome/Steroid-resistant nephrotic syndrome (NPHS2-related)

NR2E3

Enhanced S-cone syndrome/ Retinitis pigmentosa 37

NTRK1

Congenital insensitivity to pain with anhidrosis

O
OAT

Ornithine aminotransferase deficiency

OPA3

3-methylglutaconic aciduria type III (Costeff optic atrophy)

OTC

Ornithine transcarbamylase (OTC) deficiency

P
PAH

Phenylalanine hydroxylase deficiency (including Phenylketonuria (PKU))

PC

Pyruvate carboxylase deficiency

PCCA

Propionic acidemia (PCCA-related)

PCCB

Propionic acidemia (PCCB-related)

PCDH15

Usher syndrome type IF/ PCDH15-related disorders

PDHA1

Pyruvate dehydrogenase deficiency (PDHA1-related)

PDHB

Pyruvate dehydrogenase deficiency (PDHB-related)

PEX1

Zellweger spectrum disorder (PEX1-related)

PEX10

Zellweger spectrum disorder (PEX10-related)

PEX12

Zellweger spectrum disorder (PEX12-related)

PEX2

Zellweger spectrum disorder (PEX2-related)

PEX6

Zellweger spectrum disorder (PEX6-related)

PEX7

Rhizomelic chondrodysplasia punctata type 1/ Refsum disease (PEX7-related)

PFKM

Glycogen storage disease type VII

PHGDH

Phosphoglycerate dehydrogenase deficiency/ Neu-Laxova syndrome

PKHD1

Polycystic kidney disease (PKHD1-related)

PMM2

Congenital disorders of glycosylation (PMM2-related)

POMGNT1

POMGNT1-related disorders (including Muscle eye brain disease)

PPT1

Neuronal ceroid-lipofuscinosis (PPT1-related)

PROP1

Combined pituitary hormone deficiency (PROP1-related)

PRPS1

PRPS1-related disorders (including Charcot-Marie-Tooth disease type 5 and Arts syndrome)

PSAP

Combined SAP Deficiency

PTS

Tetrahydrobiopterin deficiency (PTS-related)

PUS1

Mitochondrial myopathy and sideroblastic anemia 1

PYGM

Glycogen storage disease type V

Q
R
RAB23

Carpenter Syndrome

RAG2

Severe combined immunodeficiency/ Omenn syndrome (RAG2-related)

RAPSN

Congenital myasthenic syndrome (RAPSN-related)

RARS2

Pontocerebellar hypoplasia (RARS2-related)

RDH12

Leber congenital amaurosis 13

RMRP

Cartilage-hair hypoplasia-anauxetic dysplasia spectrum disorders

RPE65

Leber congenital amaurosis 2

RPGRIP1L

RPGRIP1L-related disorders (including Joubert syndrome 7, COACH syndrome and Meckel syndrome 5)

RS1

X-linked juvenile retinoschisis

RTEL1

RTEL-1-related disorders (including Dyskeratosis congenita)

S
SACS

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)

SAMHD1

Aicardi-Goutieres syndrome (SAMHD1-related)

SEPSECS

Pontocerebellar hypoplasia (SEPSECS-related)

SERPINA1

Alpha-1 antitrypsin deficiency

SGCA

Limb-girdle muscular dystrophy type 2D

SGCB

Limb-girdle muscular dystrophy type 2E

SGCG

Limb-girdle muscular dystrophy type 2C

SGSH

Mucopolysaccharidosis type IIIA (Sanfilippo A syndrome)

SLC12A3

Gitelman syndrome

SLC12A6

Andermann syndrome

SLC17A5

Sialic acid storage disorders

SLC22A5

Primary carnitine deficiency

SLC25A13

Citrin deficiency

SLC25A15

Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome

SLC26A2

SLC26A2-related disorders (including Diatrophic dysplasia, Atelosteogenesis type 2, Achondrogenesis type 1B/ Multiple metaphyseal dysplasia)

SLC26A4

Pendred syndrome

SLC35A3

SLC35A3-related disorder

SLC37A4

Glycogen storage disease type Ib

SLC39A4

Acrodermatitis enteropathica

SLC4A11

Corneal dystrophy and perceptive deafness

SLC6A8

X-linked creatine transporter deficiency

SLC7A7

Lysinuric protein intolerance

SMARCAL1

Schimke immuno-osseous dysplasia

SMN1

Spinal muscular atrophy

SMPD1

Niemann-Pick disease type A/B

STAR

Lipoid congenital adrenal hyperplasia

SUMF1

Multiple sulfatase deficiency

T
TAT

Tyrosinemia type II

TCIRG1

Osteopetrosis (TCIRG1-related)

TECPR2

Spastic paraplegia type 49

TFR2

Hereditary hemochromatosis (TFR2-related)

TGM1

Congenital ichthyosis (TGM1-related)

TH

Tyrosine hydroxylase deficiency

TMEM216

Joubert syndrome 2/ TMEM216-related disorders

TPP1

Neuronal ceroid lipofuscinosis (TPP1-related)

TRMU

Transient infantile liver failure (TRMU-related)

TSFM

Combined oxidative phosphorylation deficiency (TSFM-related)

TTPA

Ataxia with vitamin E deficiency

TYMP

Mitochondrial neurogastrointestinal encephalopathy (MNGIE) disease

U
USH1C

Usher syndrome type IC/ USH1C-related disorders

USH2A

Usher syndrome type IIA/ USH2A-related disorders

V
VPS13A

Chorea-acanthocytosis

VPS13B

Cohen syndrome

VPS45

Severe congenital neutropenia (VPS45-related)

VRK1

Pontocerebellar hypoplasia (VRK1-related)

VSX2

Microphthalmia / clinical anophthalmia

W
WNT10A

WNT10A-related disorders (including Odonto-onycho-dermal dysplasia and Schopf-Schulz-Passarge syndrome)

X
XPA

Xeroderma pigmentosum complemetation group A

XPC

Xeroderma pigmentosum complemetation group C

Y
Z
ZFYVE26

Spastic paraplegia type 15