Invitae Comprehensive Carrier Screen

Disorders Tested

Disorder Gene

11-beta-hydroxylase-deficient congenital adrenal hyperplasia

CYP11B1

17-alpha-hydroxylase-deficient congenital adrenal hyperplasia

CYP17A1

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

HSD3B2

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

HMGCL

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

MCCC1

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

MCCC2

3-methylglutaconic aciduria type III (Costeff optic atrophy)

OPA3

ACAD9 deficiency

ACAD9

Abetalipoproteinemia

MTTP

Achromatopsia (CNGB3-related)

CNGB3

Acrodermatitis enteropathica

SLC39A4

Adenosine deaminase deficiency

ADA

Aicardi-Goutieres syndrome (SAMHD1-related)

SAMHD1

Aldosterone synthase deficiency

CYP11B2

Alkaptonuria

HGD

Alpha-1 antitrypsin deficiency

SERPINA1

Alpha-mannosidosis

MAN2B1

Alpha-thalassemia

HBA1, HBA2

Alpha-thalassemia X-linked intellectual disability syndrome

ATRX

Alport Syndrome (COL4A3-related)

COL4A3

Alport Syndrome (COL4A4-related)

COL4A4

Alport Syndrome, X-linked (COL4A5-related)

COL4A5

Alström syndrome

ALMS1

Andermann syndrome

SLC12A6

Arginase deficiency

ARG1

Argininosuccinic aciduria

ASL

Aromatase deficiency

CYP19A1

Asparagine synthetase deficiency

ASNS

Aspartylglucosaminuria

AGA

Ataxia with vitamin E deficiency

TTPA

Ataxia-telangiectasia

ATM

Autoimmune polyendocrinopathy with candidiasis and ectodermal dysplasia

AIRE

Autosomal recessive deafness 77 (DFNB77)

LOXHD1

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)

SACS

Bardet-Biedl syndrome (BBS1-related)

BBS1

Bardet-Biedl syndrome (BBS10-related)

BBS10

Bardet-Biedl syndrome (BBS12-related)

BBS12

Bardet-Biedl syndrome (BBS2-related)

BBS2

Bartter syndrome type IV

BSND

Bernard-Soulier syndrome (GP1BA-related)

GP1BA

Bernard-Soulier syndrome (GP9-related)

GP9

Beta-ketothiolase deficiency

ACAT1

Biotinidase deficiency

BTD

Bloom syndrome

BLM

Canavan disease

ASPA

Carbamoylphosphate synthetase I deficiency

CPS1

Carnitine palmitoyltransferase I deficiency

CPT1A

Carnitine palmitoyltransferase II deficiency

CPT2

Carpenter Syndrome

RAB23

Cartilage-hair hypoplasia-anauxetic dysplasia spectrum disorders

RMRP

Cerebrotendinous xanthomatosis

CYP27A1

Charcot-Marie-Tooth disease (NDRG1-related)

NDRG1

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

GJB1

Chorea-acanthocytosis

VPS13A

Choroideremia

CHM

Chronic granulomatous disease (CYBA-related)

CYBA

Chronic granulomatous disease (CYBB-related)

CYBB

Citrin deficiency

SLC25A13

Citrullinemia type 1

ASS1

Cockayne syndrome type A

ERCC8

Cockayne syndrome type B

ERCC6

Cohen syndrome

VPS13B

Combined SAP Deficiency

PSAP

Combined malonic and methylmalonic aciduria (ACSF3-related)

ACSF3

Combined oxidative phosphorylation deficiency (GFM1-related)

GFM1

Combined oxidative phosphorylation deficiency (TSFM-related)

TSFM

Combined pituitary hormone deficiency (LHX3-related)

LHX3

Combined pituitary hormone deficiency (PROP1-related)

PROP1

Congenital amegakaryocytic thrombocytopenia

MPL

Congenital disorder of glycosylation (ALG6-related)

ALG6

Congenital disorder of glycosylation (MPI-related)

MPI

Congenital disorders of glycosylation (PMM2-related)

PMM2

Congenital ichthyosis (TGM1-related)

TGM1

Congenital insensitivity to pain with anhidrosis

NTRK1

Congenital myasthenic syndrome (CHRNE-related)

CHRNE

Congenital myasthenic syndrome (RAPSN-related)

RAPSN

Congenital neutropenia (HAX1-related)

HAX1

Corneal dystrophy and perceptive deafness

SLC4A11

Cystic fibrosis/ CFTR-related disorders

CFTR

Cystinosis

CTNS

D-bifunctional protein deficiency

HSD17B4

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

DHDDS

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

DMD

Dihydrolipoamide dehydrogenase deficiency (DLD)

DLD

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

DYSF

Dystrophic epidermolysis bullosa (COL7A1-related)

COL7A1

Ehlers-Danlos syndrome type VIIC

ADAMTS2

Ellis-van Creveld syndrome (EVC-related)

EVC

Ellis-van Creveld syndrome (EVC2-related)

EVC2

Emery-Dreifuss muscular dystrophy (EMD-related)

EMD

Enhanced S-cone syndrome/ Retinitis pigmentosa 37

NR2E3

Ethylmalonic encephalopathy

ETHE1

Fabry disease

GLA

Factor IX deficiency (Hemophilia B)

F9

Factor V Leiden thrombophilia

F5

Factor XI deficiency (Hemophilia C)

F11

Familial dysautonomia

ELP1

Familial hypercholesterolemia (LDLR-related)

LDLR

Familial hypercholesterolemia (LDLRAP1-related)

LDLRAP1

Familial hyperinsulinism (ABCC8-related)

ABCC8

Familial hyperinsulinism (KCNJ11-related)

KCNJ11

Familial mediterranean fever

MEFV

Fanconi anemia type A

FANCA

Fanconi anemia type C

FANCC

Fanconi anemia type G

FANCG

Fragile X syndrome

FMR1

Fumarate hydratase deficiency

FH

GJB2-related DFNB1 nonsyndromic hearing loss and deafness

GJB2

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

BCS1L

Galactokinase deficiency galactosemia

GALK1

Galactosemia

GALT

Gaucher disease

GBA

Gitelman syndrome

SLC12A3

Glucose-6-phosphate dehydrogenase (G6PD) deficiency

G6PD

Glutaric acidemia type I

GCDH

Glutaric acidemia type II (ETFA-related)

ETFA

Glutaric acidemia type II (ETFDH-related)

ETFDH

Glycine encephalopathy (AMT-related)

AMT

Glycine encephalopathy (GLDC-related)

GLDC

Glycogen storage disease type II (Pompe disease)

GAA

Glycogen storage disease type III

AGL

Glycogen storage disease type IV/ Adult polyglucosan body disease

GBE1

Glycogen storage disease type Ia

G6PC

Glycogen storage disease type Ib

SLC37A4

Glycogen storage disease type V

PYGM

Glycogen storage disease type VII

PFKM

Guanidinoacetate methyltransferase deficiency

GAMT

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

HBB

Hereditary fructose intolerance

ALDOB

Hereditary hemochromatosis (HFE-related)

HFE

Hereditary hemochromatosis (HJV-related)

HJV

Hereditary hemochromatosis (TFR2-related)

TFR2

Hermansky-Pudlak syndrome (HPS1-related)

HPS1

Hermansky-Pudlak syndrome (HPS3-related)

HPS3

Holocarboxylase synthetase deficiency

HLCS

Homocystinuria (CBS-related)

CBS

Homocystinuria due to MTHFR deficiency

MTHFR

Homocystinuria, cobalamin E type

MTRR

Hydrolethalus syndrome type 1

HYLS1

Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome

SLC25A15

Hypohidrotic ectodermal dysplasia (EDA-related)

EDA

Hypophosphatasia

ALPL

Inclusion body myopathy 2

GNE

Isovaleric acidemia

IVD

Joubert syndrome 2/ TMEM216-related disorders

TMEM216

Junctional epidermolysis bullosa (LAMA3-related)

LAMA3

Junctional epidermolysis bullosa (LAMB3-related)

LAMB3

Junctional epidermolysis bullosa (LAMC2-related)

LAMC2

Krabbe disease

GALC

LAMA2-related muscular dystrophy

LAMA2
Disorder Gene

Leber congenital amaurosis 10/ CEP290-related disorders

CEP290

Leber congenital amaurosis 13

RDH12

Leber congenital amaurosis 2

RPE65

Leber congenital amaurosis 5

LCA5

Leber congenital amaurosis 8/ CRB1-related disorders

CRB1

Leigh syndrome, French Canadian type

LRPPRC

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

GLE1

Leukoencephalopathy with vanishing white matter (EIF2B5-related)

EIF2B5

Limb-girdle muscular dystrophy type 2A/Calpainopathy

CAPN3

Limb-girdle muscular dystrophy type 2C

SGCG

Limb-girdle muscular dystrophy type 2D

SGCA

Limb-girdle muscular dystrophy type 2E

SGCB

Lipoid congenital adrenal hyperplasia

STAR

Lipoprotein lipase deficiency

LPL

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

HADHA

Lysinuric protein intolerance

SLC7A7

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

LIPA

MKS1-related disorders

MKS1

Major histocompatibility complex class II deficiency

CIITA

Maple syrup urine disease (MSUD) type 1A

BCKDHA

Maple syrup urine disease (MSUD) type 1B

BCKDHB

Maple syrup urine disease (MSUD) type 2

DBT

Medium chain acyl-CoA dehydrogenase (MCAD) deficiency

ACADM

Megalencephalic leukoencephalopathy with subcortical cysts type 1

MLC1

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

ATP7A

Metachromatic leukodystrophy

ARSA

Methylmalonic acidemia (MMAA-related)

MMAA

Methylmalonic acidemia (MMAB-related)

MMAB

Methylmalonic acidemia (MUT-related)

MUT

Methylmalonic acidemia with homocystinuria, cobalamin C type

MMACHC

Methylmalonic acidemia with homocystinuria, cobalamin D type

MMADHC

Microphthalmia / clinical anophthalmia

VSX2

Mitochondrial DNA depletion syndrome

MPV17

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

NDUFAF5

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

NDUFS6

Mitochondrial myopathy and sideroblastic anemia 1

PUS1

Mitochondrial neurogastrointestinal encephalopathy (MNGIE) disease

TYMP

Mucolipidosis type II/III (GNPTAB-related)

GNPTAB

Mucolipidosis type III (GNPTG-related)

GNPTG

Mucolipidosis type IV

MCOLN1

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

IDUA

Mucopolysaccharidosis type II (Hunter syndrome)

IDS

Mucopolysaccharidosis type IIIA (Sanfilippo A syndrome)

SGSH

Mucopolysaccharidosis type IIIB

NAGLU

Mucopolysaccharidosis type IIIC (Sanfilippo syndrome)/ Retinitis pigmentosa 73

HGSNAT

Mucopolysaccharidosis type IIID (Sanfilippo syndrome)

GNS

Mucopolysaccharidosis type IVB (Morquio B syndrome)/ GM1 gangliosidosis

GLB1

Mucopolysaccharidosis type IX

HYAL1

Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome)

ARSB

Multiple sulfatase deficiency

SUMF1

N-Acetylglutamate synthase deficiency

NAGS

Nemaline myopathy 2

NEB

Nephrogenic diabetes insipidus (AQP2-related)

AQP2

Nephrotic syndrome/ Congenital Finnish nephrosis (NPHS1-related)

NPHS1

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

NPHS2

Neuronal ceroid lipofuscinosis (TPP1-related)

TPP1

Neuronal ceroid-lipofuscinosis (CLN3-related)

CLN3

Neuronal ceroid-lipofuscinosis (CLN5-related)

CLN5

Neuronal ceroid-lipofuscinosis (CLN6-related)

CLN6

Neuronal ceroid-lipofuscinosis (MFSD8-related)

MFSD8

Neuronal ceroid-lipofuscinosis (PPT1-related)

PPT1

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

CLN8

Niemann-Pick disease type A/B

SMPD1

Niemann-Pick disease type C (NPC1-related)

NPC1

Niemann-Pick disease type C (NPC2-related)

NPC2

Nijmegen breakage syndrome

NBN

Ornithine aminotransferase deficiency

OAT

Ornithine transcarbamylase (OTC) deficiency

OTC

Osteopetrosis (TCIRG1-related)

TCIRG1

POMGNT1-related disorders (including Muscle eye brain disease)

POMGNT1

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

PRPS1

Pendred syndrome

SLC26A4

Peroxisomal acyl-CoA oxidase deficiency

ACOX1

Phenylalanine hydroxylase deficiency (including Phenylketonuria (PKU))

PAH

Phosphoglycerate dehydrogenase deficiency/ Neu-Laxova syndrome

PHGDH

Polycystic kidney disease (PKHD1-related)

PKHD1

Polymicrogyria (ADGRG1-related)

ADGRG1

Pontocerebellar hypoplasia (RARS2-related)

RARS2

Pontocerebellar hypoplasia (SEPSECS-related)

SEPSECS

Pontocerebellar hypoplasia (VRK1-related)

VRK1

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

MED17

Primary Ciliary Dyskinesia (DNAH5-related)

DNAH5

Primary Ciliary Dyskinesia (DNAI1-related)

DNAI1

Primary Ciliary Dyskinesia (DNAI2-related)

DNAI2

Primary carnitine deficiency

SLC22A5

Primary hyperoxaluria type 1

AGXT

Primary hyperoxaluria type 2

GRHPR

Primary hyperoxaluria type 3

HOGA1

Progressive familial intrahepatic cholestasis type 2

ABCB11

Propionic acidemia (PCCA-related)

PCCA

Propionic acidemia (PCCB-related)

PCCB

Prothrombin-related thrombophilia

F2

Pycnodysostosis

CTSK

Pyruvate carboxylase deficiency

PC

Pyruvate dehydrogenase deficiency (PDHA1-related)

PDHA1

Pyruvate dehydrogenase deficiency (PDHB-related)

PDHB

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

RPGRIP1L

RTEL-1-related disorders (including Dyskeratosis congenita)

RTEL1

Renal tubular acidosis with deafness (ATP6V1B1-related)

ATP6V1B1

Retinitis Pigmentosa 28

FAM161A

Retinitis pigmentosa 25

EYS

Retinitis pigmentosa 26

CERKL

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

PEX7

Rhizomelic chondrodysplasia punctata type 3

AGPS

Roberts syndrome

ESCO2

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

SLC26A2

SLC35A3-related disorder

SLC35A3

Sandhoff disease

HEXB

Schimke immuno-osseous dysplasia

SMARCAL1

Severe combined immune deficiency (DCLRE1C-related)

DCLRE1C

Severe combined immunodeficiency/ Omenn syndrome (RAG2-related)

RAG2

Severe congenital neutropenia (VPS45-related)

VPS45

Sialic acid storage disorders

SLC17A5

Sjögren-Larsson syndrome

ALDH3A2

Smith-Lemli-Opitz syndrome

DHCR7

Spastic paraplegia type 15

ZFYVE26

Spastic paraplegia type 49

TECPR2

Spinal muscular atrophy

SMN1

Spondylothoracic dysostosis

MESP2

Steel Syndrome

COL27A1

Stüve-Wiedemann syndrome

LIFR

Tay-Sachs disease/ Hexosaminidase A deficiency

HEXA

Tetrahydrobiopterin deficiency (PTS-related)

PTS

Transient infantile liver failure (TRMU-related)

TRMU

Tyrosine hydroxylase deficiency

TH

Tyrosinemia type I

FAH

Tyrosinemia type II

TAT

Usher syndrome type IB/ MYO7A-related disorders

MYO7A

Usher syndrome type IC/ USH1C-related disorders

USH1C

Usher syndrome type ID

CDH23

Usher syndrome type IF/ PCDH15-related disorders

PCDH15

Usher syndrome type IIA/ USH2A-related disorders

USH2A

Usher syndrome type IIIA

CLRN1

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

ACADVL

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

WNT10A

Walker-Warburg syndrome/ FKRP-related disorders

FKRP

Walker-Warburg syndrome/ FKTN-related disorders

FKTN

Wilson disease

ATP7B

X-linked adrenoleukodystrophy

ABCD1

X-linked creatine transporter deficiency

SLC6A8

X-linked juvenile retinoschisis

RS1

X-linked myotubular myopathy

MTM1

X-linked severe combined immunodeficiency (X-SCID)

IL2RG

Xeroderma pigmentosum complemetation group A

XPA

Xeroderma pigmentosum complemetation group C

XPC

Zellweger spectrum disorder (PEX1-related)

PEX1

Zellweger spectrum disorder (PEX10-related)

PEX10

Zellweger spectrum disorder (PEX12-related)

PEX12

Zellweger spectrum disorder (PEX2-related)

PEX2

Zellweger spectrum disorder (PEX6-related)

PEX6