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Home , Bloom syndrome, Carpenter syndrome, Cohen syndrome, Fabry disease, Gitelman syndrome, Glycine encephalopathy

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Disorder

11-beta-hydroxylase-deficient congenital adrenal CYP11B1 hyperplasia Disorder Gene 17-alpha-hydroxylase-deficient congenital adrenal CYP17A1 Bardet-Biedl (BBS10-related)X BBS10 hyperplasia Bardet-Biedl syndrome (BBS12-related) BBS12 3-beta-hydroxysteroid dehydrogenase type II HSD3B2 deficiency (Congenital adrenal hyperplasia) Bardet-Biedl syndrome (BBS1-related) BBS1

3-hydroxy-3-methylglutarayl-CoA (HMG-CoA) Bardet-Biedl syndrome (BBS2-related) BBS2 HMGCL lyase deficiency type IV (BSND-related) BSND 3-methylglutaconic aciduria type III (Costeff optic OPA3 atrophy) Beta-ketothiolase deficiency ACAT1

Abetalipoproteinemia MTTP BLM

ACAD9 deficiency ACAD9 ASPA

Achromatopsia (CNGB3-related) CNGB3 Carbamoylphosphate synthetase I deficiency CPS1

Acrodermatitis enteropathica SLC39A4 palmitoyltransferase I deficiency CPT1A

Adenosine deaminase deficiency ADA Carnitine palmitoyltransferase II deficiency CPT2

Aicardi-Goutieres syndrome (SAMHD1-related) SAMHD1 (RAB23-related) RAB23 Cartilage- hypoplasia-anauxetic dysplasia synthase deficiency CYP11B2 RMRP spectrum disorders Alpha- MAN2B1 Cerebrotendinous xanthomatosis CYP27A1 Alpha-thalassemia HBA1/ HBA2 Charcot-Marie-Tooth disease (NDRG1-related) NDRG1

Alpha-thalassemia X-linked Charcot-Marie-Tooth disease, X-linked (GJB1- ATRX GJB1 syndrome related)

Alport Syndrome (COL4A3-related) COL4A3 -acanthocytosis VPS13A

Alport Syndrome (COL4A4-related) COL4A4 CHM

Alport Syndrome, X-linked (COL4A5-related) COL4A5 Chronic granulomatous disease (CYBA-related) CYBA

Alström syndrome ALMS1 Chronic granulomatous disease (CYBB-related) CYBB

Andermann syndrome FCP SLC12A6 Citrin deficiency SLC25A13

Arginase deficiency ARG1 type 1 ASS1

Argininosuccinic aciduria ASL type A ERCC8

Aromatase deficiency CYP19A1 Cockayne syndrome type B ERCC6

Asparagine synthetase deficiency ASNS Cohen syndrome VPS13B Combined malonic and methylmalonic aciduria AGA ACSF3 (ACSF3-related) with vitamin E deficiency TTPA Combined oxidative phosphorylation deficiency GFM1 Ataxia- ATM (GFM1-related)

Autoimmune polyendocrinopathy with Combined oxidative phosphorylation deficiency AIRE TSFM candidiasis and (TSFM-related)

Autosomal recessive deafness 77 (DFNB77) LOXHD1 Combined pituitary hormone deficiency (LHX3- LHX3 related) Autosomal recessive spastic ataxia of FCP SACS Charlevoix-Saguenay (ARSACS) Combined pituitary hormone deficiency (PROP1- PROP1 related) Disorder Gene Disorder Gene

Combined SAP Deficiency PSAP FMR1

Congenital amegakaryocytic thrombocytopenia MPL Fumarate hydratase deficiency FH

Congenital disorder of glycosylation (ALG6-related) ALG6 Galactokinase deficiency galactosemia GALK1

Congenital disorder of glycosylation Galactosemia (GALT-related) GALT FCP MPI (MPI-related) Gaucher disease GBA Congenital disorder of glycosylation (PMM2- PMM2 related) Gitelman syndrome (SLC12A3-related) SLC12A3 GJB2-related DFNB1 nonsyndromic Congenital (TGM1-related) TGM1 GJB2 and deafness Congenital insensitivity to pain with anhidrosis NTRK1 Glutaric acidemia type I GCDH Congenital myasthenic syndrome (CHRNE-related) CHRNE Glutaric acidemia type II (ETFA-related) ETFA Congenital myasthenic syndrome (RAPSN-related) RAPSN Glutaric acidemia type II (ETFDH-related) ETFDH Congenital neutropenia (HAX1-related) HAX1 (AMT-related) AMT Corneal dystrophy and perceptive deafness SLC4A11 (GLDC-related) GLDC / CFTR-related disorders FCP CFTR Glycogen storage disease type Ia G6PC CTNS Glycogen storage disease type Ib SLC37A4 D-bifunctional deficiency HSD17B4 Glycogen storage disease type II (Pompe disease) GAA DHDDS-related disorders (including Congenital DHDDS disorder of glycoslylation/ 59) Glycogen storage disease type III AGL Glycogen storage disease type IV/ Adult Dihydrolipoamide dehydrogenase deficiency (DLD) DLD GBE1 polyglucosan body disease DMD-related dystrophinopathy (Including Duchenne/Becker muscular dystrophy and DMD Glycogen storage disease type V PYGM Dilated cardiomyopathy) Glycogen storage disease type VII PFKM

Dystrophic (COL7A1-related) COL7A1 GRACILE syndrome/ BCS1L-related disorders Ehlers-Danlos syndrome, dermatosparaxis type ADAMTS2 (including Mitochondrial complex III deficiency, BCS1L Bjornstad syndrome, Leigh syndrome) Ellis-van Creveld syndrome (EVC2-related) EVC2 Guanidinoacetate methyltransferase deficiency GAMT Ellis-van Creveld syndrome (EVC-related) EVC HBB-related hemoglobinopathies (including Beta- HBB Emery-Dreifuss muscular dystrophy (EMD-related) EMD thalassemia and Sickle disease)

Enhanced S-cone syndrome/ Retinitis Hereditary fructose intolerance ALDOB NR2E3 pigmentosa 37 Hereditary hemochromatosis (HJV-related) HJV Ethylmalonic encephalopathy ETHE1 Hereditary hemochromatosis (TFR2-related) TFR2 GLA Hermansky-Pudlak syndrome (HPS1-related) HPS1 Factor IX deficiency (Hemophilia B) F9 Hermansky-Pudlak syndrome (HPS3-related) HPS3 Familial dysautonomia (IKBKAP) ELP1 Holocarboxylase synthetase deficiency HLCS Familial hypercholesterolemia (LDLRAP1-related) LDLRAP1 (CBS-related) CBS Familial hypercholesterolemia (LDLR-related) LDLR Homocystinuria due to MTHFR deficiency MTHFR Familial hyperinsulinism (ABCC8-related) ABCC8 Homocystinuria, cobalamin E type MTRR Familial hyperinsulinism (KCNJ11-related) KCNJ11 type 1 HYLS1 Fanconi type A FANCA Hyperornithinemia-- SLC25A15 type C FANCC homocitrullinuria (HHH) syndrome

Fanconi anemia type G FANCG Hypohidrotic ectodermal dysplasia (EDA-related) EDA Disorder Gene Disorder Gene

Hypophosphatasia ALPL Medium chain acyl-CoA dehydrogenase (MCAD) ACADM deficiency Inclusion body myopathy 2 GNE Megalencephalic leukoencephalopathy with MLC1 IVD subcortical cysts type 1

Joubert syndrome 2/ TMEM216-related disorders TMEM216 / ATP7A-related disorders (including and Distal ATP7A Junctional epidermolysis bullosa (LAMA3-related) LAMA3 hereditary motor neuropathy) Junctional epidermolysis bullosa (LAMB3-related) LAMB3 Metachromatic (ARSA-related) ARSA Junctional epidermolysis bullosa (LAMC2-related) LAMC2 (MMAA-related) MMAA GALC Methylmalonic acidemia (MMAB-related) MMAB LAMA2-related muscular dystrophy LAMA2 Methylmalonic acidemia (MUT-related) MUT Leber congenital amaurosis 10/ CEP290-related CEP290 Methylmalonic acidemia with homocystinuria, disorders MMACHC cobalamin C type Leber congenital amaurosis 13 RDH12 Methylmalonic acidemia with homocystinuria, MMADHC Leber congenital amaurosis 2 RPE65 cobalamin D type / clinical anophthalmia (VSX2- Leber congenital amaurosis 5 LCA5 VSX2 related) Leber congenital amaurosis 8/ CRB1-related CRB1 Mitochondrial complex I deficiency/ Leigh disorders NDUFAF5 syndrome (NDUFAF5-related) Leigh syndrome, French Canadian type FCP LRPPRC Mitochondrial complex I deficiency/ Leigh NDUFS6 Lethal congenital contracture syndrome 1 / Lethal syndrome (NDUFS6- related) GLE1 arthrogryposis with anterior horn cell disease Mitochondrial DNA depletion syndrome (MPV17- MPV17 Leukoencephalopathy with vanishing white related) EIF2B5 matter (EIF2B5-related) Mitochondrial myopathy and sideroblastic PUS1 Limb-girdle muscular dystrophy type 2A anemia 1 CAPN3 (calpainopathy) Mitochondrial neurogastrointestinal TYMP Limb-girdle muscular dystrophy type 2B encephalopathy (MNGIE) disease DYSF (dysferlinopathy) MKS1-related disorders MKS1 Limb-girdle muscular dystrophy type 2C SGCG type III (GNPTG-related) GNPTG Limb-girdle muscular dystrophy type 2D SGCA Mucolipidosis type IV MCOLN1 Limb-girdle muscular dystrophy type 2E SGCB type I (includes Hurler, IDUA Lipoid congenital adrenal hyperplasia (STAR- Hurler-Scheie, and Scheie ) STAR related) Mucopolysaccharidosis type II () IDS Lipoprotein lipase deficiency LPL Mucolipidosis type II/III (GNPTAB-related) FCP GNPTAB Long chain 3-hydroxyacyl-CoA dehydrogenase HADHA Mucopolysaccharidosis type IIIA (Sanfilippo A (LCHAD) deficiency SGSH syndrome) Lysinuric protein intolerance SLC7A7 Mucopolysaccharidosis type IIIB NAGLU Lysosomal acid lipase deficiency (includes Mucopolysaccharidosis type IIIC (Sanfilippo Wolman disease and Cholesterol ester storage LIPA HGSNAT disease) syndrome)/ Retinitis pigmentosa 73

Major histocompatibility complex class II Mucopolysaccharidosis type IIID (Sanfilippo CIITA GNS deficiency (CIITA-related) syndrome) Mucopolysaccharidosis type IVB (Morquio B Maple syrup urine disease (MSUD) type 1A BCKDHA GLB1 syndrome)/ GM1 Maple syrup urine disease (MSUD) type 1B BCKDHB Mucopolysaccharidosis type IX HYAL1 Maple syrup urine disease (MSUD) type 2 DBT Disorder Gene Disorder Gene

Mucopolysaccharidosis type VI (Maroteaux-Lamy Primary carnitine deficiency SLC22A5 ARSB syndrome) Primary Ciliary Dyskinesia (DNAH5-related) DNAH5 Multiple sulfatase deficiency SUMF1 Primary Ciliary Dyskinesia (DNAI1-related) DNAI1 N-Acetylglutamate synthase deficiency NAGS Primary Ciliary Dyskinesia (DNAI2-related) DNAI2 Nemaline myopathy 2 NEB Primary hyperoxaluria type 1 AGXT Nephrogenic (AQP2-related) AQP2 Primary hyperoxaluria type 2 GRHPR / Congenital Finnish NPHS1 (NPHS1-related) Primary hyperoxaluria type 3 HOGA1

Nephrotic syndrome/Steroid-resistant nephrotic Progressive familial intrahepatic cholestasis type 2 ABCB11 NPHS2 syndrome (NPHS2-related) (PCCA-related) PCCA Neuronal ceroid lipofuscinosis (TPP1-related) TPP1 Propionic acidemia (PCCB-related) PCCB Neuronal ceroid-lipofuscinosis (CLN3-related) CLN3 PRPS1-related disorders (including Charcot- PRPS1 Neuronal ceroid-lipofuscinosis (CLN5-related) CLN5 Marie-Tooth disease type 5 and Arts syndrome)

Neuronal ceroid-lipofuscinosis (CLN6-related) CLN6 Pycnodysostosis CTSK

Neuronal ceroid-lipofuscinosis (MFSD8-related) MFSD8 Pyruvate carboxylase deficiency PC Pyruvate dehydrogenase deficiency (PDHA1- Neuronal ceroid-lipofuscinosis (PPT1-related) PPT1 PDHA1 related) Neuronal ceroid-lipofuscinosis/ Northern CLN8 epilepsy (CLN8-related) Pyruvate dehydrogenase deficiency (PDHB-related) PDHB with deafness (ATP6V1B1- Niemann-Pick disease type A/B SMPD1 ATP6V1B1 related) Niemann-Pick disease type C (NPC1-related) NPC1 Retinitis pigmentosa 25 EYS Niemann-Pick disease type C (NPC2-related) NPC2 Retinitis pigmentosa 26 CERKL Nijmegen breakage syndrome NBN Retinitis Pigmentosa 28 FAM161A Ornithine aminotransferase deficiency OAT Rhizomelic chondrodysplasia punctata type 1/ PEX7 Ornithine transcarbamylase (OTC) deficiency OTC Refsum disease (PEX7-related)

Osteopetrosis (TCIRG1-related) TCIRG1 Rhizomelic chondrodysplasia punctata type 3 AGPS

Pendred syndrome SLC26A4 Roberts syndrome ESCO2

Peroxisomal acyl-CoA oxidase deficiency ACOX1 RPGRIP1L-related disorders (including 7, COACH syndrome and Meckel RPGRIP1L hydroxylase deficiency (including PAH syndrome 5) (PKU)) RTEL-1-related disorders (including Dyskeratosis Phosphoglycerate dehydrogenase deficiency/ RTEL1 PHGDH congenita) Neu-Laxova syndrome HEXB Polycystic disease (PKHD1-related) PKHD1 Schimke immuno-osseous dysplasia SMARCAL1 Polymicrogyria (ADGRG1-related) ADGRG1 Severe combined immune deficiency (DCLRE1C- POMGNT1-related disorders (including Muscle eye DCLRE1C POMGNT1 related) disease) Severe combined / Omenn RAG2 Pontocerebellar hypoplasia (RARS2-related) RARS2 syndrome (RAG2-related)

Pontocerebellar hypoplasia (SEPSECS-related) SEPSECS Severe congenital neutropenia (VPS45-related) VPS45

Pontocerebellar hypoplasia (VRK1-related) VRK1 Sialic acid storage disorders SLC17A5

Postnatal progressive with Sjögren-Larsson syndrome ALDH3A2 and brain atrophy/ Infantile cerebral and MED17 cerebellar atrophy (MED17-related) Disorder Gene Disorder Gene

SLC26A2-related disorders (including Diatrophic X-linked transporter deficiency SLC6A8 dysplasia, Atelosteogenesis type 2, SLC26A2 type 1B/ Multiple metaphyseal dysplasia) X-linked juvenile retinoschisis RS1

SLC35A3-related disorder SLC35A3 X-linked myotubular myopathy MTM1 X-linked severe combined immunodeficiency Smith-Lemli-Opitz syndrome DHCR7 IL2RG (X-SCID) Spastic paraplegia type 15 ZFYVE26 Zellweger spectrum disorder (PEX10-related) PEX10 Spastic paraplegia type 49 TECPR2 Zellweger spectrum disorder (PEX12-related) PEX12 Spinal muscular atrophy SMN1 Zellweger spectrum disorder (PEX1-related) PEX1 Spondylothoracic dysostosis MESP2 Zellweger spectrum disorder (PEX2-related) PEX2 Steel Syndrome COL27A1 Zellweger spectrum disorder (PEX6-related) PEX6 Stüve-Wiedemann syndrome LIFR

Tay-Sachs disease/ Hexosaminidase A FCP HEXA deficiency FRENCH CANADIAN PANELS on the French Canadian panel are also included Tetrahydrobiopterin deficiency (PTS-related) PTS in the Expanded panel

Transient infantile failure (TRMU-related) TRMU Disorder Gene hydroxylase deficiency TH Andermann syndrome FCP SLC12A6 type I FCP FAH Autosomal recessive spastic ataxia of FCP SACS Tyrosinemia type II TAT Charlevoix-Saguenay (ARSACS)

Usher syndrome type IB/ MYO7A-related Congenital disorder of glycosylation MYO7A FCP MPI disorders (MPI-related)

Usher syndrome type IC/ USH1C-related disorders USH1C Cystic fibrosis/ CFTR-related disorders FCP CFTR

Usher syndrome type ID CDH23 Leigh syndrome, French Canadian type FCP LRPPRC

Usher syndrome type IF/ PCDH15-related FCP PCDH15 Mucolipidosis type II/III (GNPTAB-related) GNPTAB disorders Tay-Sachs disease/ Hexosaminidase A Usher syndrome type IIA/ USH2A-related FCP HEXA USH2A deficiency disorders FCP FAH Usher syndrome type IIIA CLRN1

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

Walker-Warburg syndrome/ FKRP-related FKRP disorders

Walker-Warburg syndrome/ FKTN-related FKTN disorders

Wilson disease ATP7B

WNT10A-related disorders (including Odonto- onycho-dermal dysplasia and Schopf-Schulz- WNT10A 1–84-GENEHELP (1-844-363-4357) Passarge syndrome) [email protected] pigmentosum complementation www.lifelabsgenetics.com XPA group A

Xeroderma pigmentosum complementation XPC group C In partnership with

X-linked ABCD1 LifeLabs LP. ©LifeLabs 2019 LifeLabs is a registered trademark and LifeLabs Genetics is a trademark of LifeLabs LP. V2 | APR 2020 | ECS Gene List