Jewish Genetic Diseases

Universal Screening Panel

• 11-Beta Hydroxylase-Deficient Congenital Adrenal Hyperplasia (CYP11B1)

• 21 Hydroxylase-Deficient Congenital Adrenal Hyperplasia (CYP21A2)

• 6-Pyruvoyl-Tetrahydroprotein Synthase Deficiency (PTS)

• ABCC8-Related Hyperinsulinism (ABCC-8)

• Adenosine Deaminase Deficiency (ADA)

• Adrenoleukodystrophy: X-linked (ABCD1)

• Alpha Thalassemia (HBA1/HBA2)

• Alpha-Mannosidosis (MAN2B1)

• Alpha-Sarcoglycanopathy (SGCA)

• Alport syndrome, X-Linked (COL4A5)

• Alstrom Syndrome

• AMT-Related Glycine Encephalopathy

• Andermann Syndrome (SLC12A6)

• Argininemia or Arginase Deficiency (ARG1)

• Argininosuccinic Aciduria (ASL)

• ARSACS (SACS)

• Aspartylglycosaminuria (AGA)

• Ataxia with Vitamin E Deficiency (TTPA)

• Ataxia-telangiectasia

• ATP7A-Related Disorders

• Autosomal Recessive Osteopetrosis, Type 1

• Bardet-Biedl Syndrome (BBS1, BBS10, BBS12, BBS2)

• Beta-Sarcoglycanopathy (including Limb-Girdle Muscular Dystrophy, Type 2E)

• Biotinidase Deficiency

• Bloom Syndrome

• Calpainopathy

• Canavan Disease

• Carbamoylphosphate Synthetase I Deficiency (CPS1)

• Carnitine Palmitoyltransferase IA (CPT1A)

• Carnitine Palmitoyltransferase II (CPT2)

• Cartilage-Hair Hypoplasia (RMRP)

• Cerobrotendinous Xanthamatosis (CYP27A1)

• Citrullinemia Type I (ASS1)

• CLN3-Related Neuronal Ceroid Lipofuscinosis (CLN3)

• CLN5-Related Neuronal Ceroid Lipofuscinosis (CLN5)

• CLN6-Related Neuronal Ceroid Lipofuscinosis (CLN6)

• Cohen Syndrome (VPS13B)

• COL4A3-Related Alport Syndrome (COL4A3)

• COL4A4-Related Alport Syndrome (COL4A4)

• Congenital Disorder of Glycosylation, Type Ia (PMM2)

• Congenital Disorder of Glycosylation, Type Ib (MPI)

• Congenital Disorder of Glycosation, Type lc

• Congenital Finnish Nephrosis (NPHS1)

• Costeff Optic Atrophy Syndrome

• Cystic fibrosis

• Cystinosis (CTNS)

• D-Binfunctional Protein Deficiency (HSD17B4)

• Delta-Sarcoglycanopathy

• Dysferlinopahty (DYSF)

• Dystrophinopathies (including Duchenne/Becker Muscular Dystrophy) (DMD)

• ERCC6-Related Disorders

• ERCC8-Related Disorders (ERCC8)

• Ellis-Van Creveld Syndrome (EVC or EVC2)

• Fabry Disease (GLA)

• Familial Dysautonomia (IKBKAP)

• Familial Meditteranean Fever (MEFV)

• Fanconi Anemia (FANCA and FANCC)

• FKRP-Related Disorders

• FKTN-Related Disorders (including Walker-Warburg Syndrome)(FKTN)>

• Fragile X Syndrome (FMR1)

• Galactokinase Deficiency (GALK1)

• Galactosemia (GALT)

• Gamma-Sarcoglycanopathy (SGCG)

• Gaucher Disease (GBA)

• GJB2-Related DFNB1 Nonsyndromic Hearing Loss and Deafness (including two GJB6 deletions) (GJB2)

• GLB1-Related Disorders (GLB1)

• GLDC-Related Glycine Encephalopathy (GLDC)

• Glutaric Acidemia, Type I (GCDH)

• Glycogen Storage Disease 1a (G6PC)

• Glycogen Storage Disease Type 1b (SLC37A4)

• Glycogen Storage Disease, Type III

• GNPTAB-Related Disorders (GPNTAB)

• GRACILE Syndrome

• HADHA-Related Disorders (including Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency) (HADHA)

• Hb Beta Chain-Related Hemoglobinopathy (including Beta Thalassemia and Sickle Cell Disease)(HBB)

• Hereditary Fructose Intolerance (ALDOB)

• Herlitz Junctional Epidermolysis Bullosa, LAMA3-Realated (LAMA3)

• Herlitz Junctional Epidermolysis Bullosa, LAMB3-Related (LAMB3)

• Herlitz Junctional Epidermolysis Bullosa, LAMC2-related (LAMC2)

• Hexosaminidase A Deficiency (including Tay-Sachs Disease) (HEXA)

• HMG-CoA Lyase Deficiency (HMGCL)

• Holocarboxylase Synthetase Deficiency (HLCS)

• Homocystinuria caused by Cystathionine Beta-Synthase Deficiency (CBS)

• Hydrolethalus Syndrome (HYLS1)

• Hypophosphatasia, Autosomal Recessive

• Inclusion Body Myopathy 2 (GNE)

• Isovaleric Acidemia (IVD)

• Joubert Syndrome 2 (TMEM216)

• KCNJ11-Related Familial Hyperinsulinism (KCNJ11)

• Krabbe Disease (GALC)

• LAMA2-Related Muscular Dystrphy (LAMA2)

• Leigh Syndrome, French-Canadian Type (LRPPRC)

• Lipoamide Dehydrogenase Deficiency (DLD)

• Lipoid Congenital Adrenal Hyperplasia (STAR)

• Lysosomal Acid Lipase Deficiency

• Maple Syrup Urine Disease (Type Ia, Type IB, Type II)

• Medium Chain Acyl-CoA Dehydrogenase Deficiency (ACADM)

• Megalencephalic Leukoenchephalopathy with Subcortial Cysts (MLC1)

• Metachromatic Leukodystrophy (ARSA)

• Methylmalonic Acidemia cbIA and cbIB Types (MMAA, MMAB)

• Methylmalonic Aciduria and Homocystinuria, cbIC Type (MMACHC)

• MKS1-Related Disorders (MKS1)

• Mucolipidosis III Gamma (GNPTG)

• Mucolipidosis IV (MCOLN1)

• Mucopolysaccharidosis, Type I (including Hurler Syndrome) (IDUA)

• Mucopolysaccharidosis, Type II (IDS)

• Mucopolysaccharidosis Type IIIA (SGSH), IIIB (NAGLU), IIIC (HGSNAT)

• Muscle-Eye-Brain Disease

• MUT-Related Methylmalonic Academia (MUT)

• MYO7A-Related Disorders (MYO7A)

• NEB-Related Nemaline Myopathy (NEB)

• Niemann-Pick Disease Type C (NPC1), Type C2 (NPC2), SMPD1-Associated (SMPD1)

• Nijmegen Breakage Syndrome (NBN)

• Northern Epilepsy (CLN8)

• Ornithine Transcarbamylase Deficiency (OTC)

• PCCA-Related and PCCB-Related Propionic Acidemia

• PCDH15-Related Disorders (including Usher Syndrome, Type 1F)

• Pendred Syndrome (SLC26A4)

• Peroxisome Biogenesis Disorder, Type 3 (PEX12)

• Peroxisome Biogenesis Disorder, Type 4

• Peroxisome Biogenesis Disorder, Type 5 (PEX2)

• Peroxisome Biogenesis Disorder, Type 6 (PEX10)

• PEX1-Related Zellweger Syndrome Spectrum (PEX1)

• Phenylalanine Hydroxylase Deficiency (PAH)

• PKHD1-Related Autosomal Recessive Polycystic Kidney Disease (PKHD1)

• Polyglandular Autoimmune Syndrome, Type 1 (AIRE)

• Pompe Disease (GAA)

• PPT1-Related Neuronal Ceroid Lipofuscinosis (PPT1)

• Primary Carnitine Deficiency (SLC22A5)

• Primary Hyperoxaluria, Type 1 (AGXT)

• Primary Hyperoxaluria, Type 2 (GRHPR)

• Primary Hyperoxaluria, Type 3 (HOGA1)

• PROP1-Related Combined Pituitary Hormone Deficiency (PROP1)

• Pycnodysostosis (CTSJ)

• Pyruvate Carboxylase Deficiency (PC)

• Rhizomelic Chondrodysplasia Punctata, Type 1 (PEX7)

• RTEL1-Related Disorders (RTEL1)

• Salla Disease (SLC17A5)

• Sandhoff Disease (HEXB)

• Segawa Snydome (TH)

• Short Chain Acyl-CoA Dehydrogenase Deficiency (ACADS)

• Sjogren-Larsson Syndrome (ALDH3A2)

• Smith-Lemil-Opitz Syndrome (DHCR7)

• Spastic Paraplegia, Type 15 (ZFYVE26)

• Spinal Muscular Atrophy (SMN1)

• Spondylothoracic Dysostoses (MESP2)

• Steroid-Resistant Nephrotic Syndrome (NPHS2)

• https://www.counsyl.com/services/foresight/diseases/sulfate-transporter-related-osteochondrodysplasia/

• TGM1-Related Autosomal Recessive Congenital Ichthyosis

• TPPP1-Related Neuronal Ceroid Lipofuscinosis

• Tyrosinemia Type I (FAH) & Type II (TAT)

• USH1C-Related Disorders

• USH2A-Related Disorders

• Usher Syndrome (CLRN1), Type 3

• Very Long Chain Acyl-CoA Dehydrogenase Deficiency (ACADVL)

• Wilson Disease (ATP7B)

• X-Linked Congenital Adrenal Hypoplasia (NR0B1)

• X-Linked Juvenile Retinoschisis

• X-Linked Myotubular Myopathy (MTM1)

• X-Linked Severe Combined Immunodeficiency (IL2RG)

• Xeroderma Pigmentosum Group A (XPA) and Group C (XPC)