Foresight™ Carrier Screen Disease List

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Foresight™ Carrier Screen disease list Using a systematic approach to improve our panel for both patients and providers, Counsyl has updated its Universal Panel — introducing the latest breakthrough in expanded carrier screening.

11-Beta-Hydroxylase-Deficient Bardet-Biedl Syndrome, Congenital Finnish Nephrosis Gaucher Disease (GBA)* Congenital Adrenal Hyperplasia BBS10-Related (BBS10) (NPHS1) GJB2-Related DFNB1 (CYP11B1) Bardet-Biedl Syndrome, Costeff Optic Atrophy Syndrome Nonsyndromic Hearing Loss and 21-Hydroxylase-Deficient BBS12-Related (BBS12) (OPA3) Deafness (including two GJB6 GJB2 Congenital Adrenal Hyperplasia Bardet-Biedl Syndrome, Cystic Fibrosis (CFTR) deletions) ( ) (CYP21A2)* BBS2-Related (BBS2) Cystinosis (CTNS) GLB1-Related Disorders (GLB1) 6-Pyruvoyl-Tetrahydropterin Beta-Sarcoglycanopathy GLDC-Related Glycine PTS D-Bifunctional Protein Deficiency Synthase Deficiency ( ) (including Limb-Girdle Muscular Encephalopathy (GLDC) Dystrophy, Type 2E) (SGCB) (HSD17B4) ABCC8-Related Hyperinsulinism Glutaric Acidemia, Type 1 (GCDH) (ABCC8) Biotinidase Deficiency BTD( ) Delta-Sarcoglycanopathy (SGCD) Glycogen Storage Disease, Bloom Syndrome (BLM) Dysferlinopathy (DYSF) Adenosine Deaminase Deficiency Type Ia (G6PC) (ADA) Calpainopathy (CAPN3) Dystrophinopathies (including Duchenne/Becker Muscular Glycogen Storage Disease, Adrenoleukodystrophy: X-Linked Canavan Disease (ASPA) Type Ib (SLC37A4) (ABCD1) Dystrophy)(DMD) Carbamoylphosphate Synthetase I ERCC6-Related Disorders (ERCC6) Glycogen Storage Disease, Alpha Thalassemia (HBA1/HBA2)* Deficiency CPS1( ) Type III (AGL) Carnitine Palmitoyltransferase IA ERCC8-Related Disorders (ERCC8) GNPTAB-Related Disorders Deficiency CPT1A( ) Alpha-Mannosidosis (MAN2B1) EVC-Related Ellis-Van Creveld (GNPTAB) Carnitine Palmitoyltransferase II Syndrome (EVC) Alpha-Sarcoglycanopathy GRACILE Syndrome (BCS1L) (including Limb-Girdle Muscular Deficiency CPT2( ) EVC2-Related Ellis-Van Creveld Dystrophy, Type 2D) (SGCA) Cartilage-Hair Hypoplasia Syndrome (EVC2) HADHA-Related Disorders (RMRP) (including Long Chain Alport Syndrome, X-Linked Fabry Disease (GLA) 3-Hydroxyacyl-CoA (COL4A5) Cerebrotendinous Xanthomatosis Familial Dysautonomia (IKBKAP) Dehydrogenase Deficiency) (CYP27A1) Alstrom Syndrome (ALMS1) (HADHA) Citrullinemia, Type 1 (ASS1) AMT-Related Glycine Familial Mediterranean Fever Hb Beta Chain-Related Encephalopathy (AMT) CLN3-Related Neuronal Ceroid (MEFV) Hemoglobinopathy (including Lipofuscinosis (CLN3) Beta Thalassemia and Sickle Cell Andermann Syndrome (SLC12A6) Fanconi Anemia Complementation, CLN5-Related Neuronal Ceroid Disease)(HBB) Argininemia (ARG1) Group A (FANCA) Lipofuscinosis (CLN5) Hereditary Fructose Intolerance Fanconi Anemia, Type C Argininosuccinic Aciduria (ASL) CLN6-Neuronal Ceroid (ALDOB) (FANCC) ARSACS (SACS) Lipofuscinosis, Type 6 (CLN6) Herlitz Junctional Epidermolysis FKRP-Related Disorders (FKRP) Aspartylglycosaminuria (AGA) Cohen Syndrome (VPS13B) Bullosa, LAMA3-Related COL4A3-Related Alport FKTN-Related Disorders (LAMA3) Ataxia with Vitamin E Deficiency (including Walker-Warburg Syndrome (COL4A3) Herlitz Junctional Epidermolysis (TTPA) Syndrome) (FKTN) COL4A4-Related Alport Bullosa, LAMB3-Related (LAMB3) Ataxia-Telangiectasia (ATM) Fragile X Syndrome (FMR1)* Syndrome (COL4A4) Herlitz Junctional Epidermolysis ATP7A-Related Disorders Congenital Disorder of Bullosa, LAMC2-related (LAMC2) (ATP7A) Galactokinase Deficiency Glycosylation, Type Ia (PMM2) Hexosaminidase A Deficiency (GALK1) Autosomal Recessive Congenital Disorder of (including Tay-Sachs Disease) Osteopetrosis, Type 1 (TCIRG1) Glycosylation, Type Ib (MPI) Galactosemia (GALT) (HEXA) Bardet-Biedl Syndrome, Congenital Disorder of Gamma-Sarcoglycanopathy HMG-CoA Lyase Deficiency BBS1-Related (BBS1) Glycosylation, Type Ic (ALG6) (SGCG) (HMGCL) Holocarboxylase Synthetase Mucolipidosis IV (MCOLN1) PEX1-Related Zellweger Sulfate Transporter-Related Deficiency HLCS( ) Mucopolysaccharidosis, Type I Syndrome Spectrum (PEX1) Osteochondrodysplasia Homocystinuria caused by (including Hurler Syndrome) Phenylalanine Hydroxylase (SLC26A2) Cystathionine Beta-Synthase (IDUA) Deficiency PAH( ) TGM1-Related Autosomal Recessive Congenital Ichthyosis Deficiency CBS( ) Mucopolysaccharidosis, PKHD1-Related Autosomal (TGM1) Hydrolethalus Syndrome (HYLS1) Type II (IDS) Recessive Polycystic Kidney Disease (PKHD1) TPP1-Related Neuronal Ceroid Hypophosphatasia, Autosomal Mucopolysaccharidosis, Lipofuscinosis (TPP1) Recessive (ALPL) Type IIIA (SGSH) Polyglandular Autoimmune Syndrome, Type 1 (AIRE) Tyrosinemia, Type I (FAH) Inclusion Body Myopathy 2 (GNE) Mucopolysaccharidosis, Tyrosinemia, Type II (TAT) Isovaleric Acidemia (IVD) Type IIIB (NAGLU) Pompe Disease (GAA) USH1C-Related Disorders Joubert Syndrome 2 (TMEM216) Mucopolysaccharidosis, PPT1-Related Neuronal Ceroid Type IIIC (HGSNAT) Lipofuscinosis (PPT1) (USH1C) KCNJ11-Related Familial USH2A-Related Disorders Hyperinsulinism (KCNJ11) Muscle-Eye-Brain Disease Primary Carnitine Deficiency (POMGNT1) (SLC22A5) (USH2A) Krabbe Disease (GALC) MUT-Related Methylmalonic Primary Hyperoxaluria, Usher Syndrome, Type 3 (CLRN1) LAMA2-Related Muscular Academia (MUT) Type 1 (AGXT) Very Long Chain Acyl-CoA Dystrophy (LAMA2) MYO7A-Related Disorders Primary Hyperoxaluria, Dehydrogenase Deficiency Leigh Syndrome, French- (MYO7A) Type 2 (GRHPR) (ACADVL) Canadian Type (LRPPRC) NEB-Related Nemaline Myopathy Primary Hyperoxaluria, Wilson Disease (ATP7B) Lipoamide Dehydrogenase (NEB) Type 3 (HOGA1) X-Linked Congenital Adrenal Deficiency DLD( ) Niemann-Pick Disease, PROP1-Related Combined Hypoplasia (NR0B1) Lipoid Congenital Adrenal Type C (NPC1) Pituitary Hormone Deficiency X-Linked Juvenile Retinoschisis Hyperplasia (STAR) (PROP1) Niemann-Pick Disease, (RS1) Lysosomal Acid Lipase Deficiency Type C2 (NPC2) Pycnodysostosis (CTSK) X-Linked Myotubular Myopathy (LIPA) Niemann-Pick Disease, SMPD1- Pyruvate Carboxylase Deficiency (MTM1) Maple Syrup Urine Disease, Associated (SMPD1) (PC) X-Linked Severe Combined Type Ia (BCKDHA) Nijmegen Breakage Syndrome Rhizomelic Chondrodysplasia Immunodeficiency IL2RG( ) Maple Syrup Urine Disease, (NBN) Punctata, Type 1 (PEX7) Xeroderma Pigmentosum, Type IB (BCKDHB) XPA Northern Epilepsy (CLN8) RTEL1-Related Disorders (RTEL1) Group A ( ) Maple Syrup Urine Disease, Xeroderma Pigmentosum, Ornithine Transcarbamylase Salla Disease (SLC17A5) Type II (DBT) Group C (XPC) Deficiency OTC( ) Medium Chain Acyl-CoA Sandhoff Disease HEXB( ) Dehydrogenase Deficiency PCCA-Related Propionic Acidemia Segawa Syndrome (TH) (PCCA) (ACADM) Short Chain Acyl-CoA Megalencephalic PCCB-Related Propionic Acidemia Dehydrogenase Deficiency Leukoencephalopathy with (PCCB) (ACADS) Subcortical Cysts (MLC1) PCDH15-Related Disorders Sjogren-Larsson Syndrome Metachromatic Leukodystrophy (including Usher Syndrome, Type (ALDH3A2)

(ARSA) 1F) (PCDH15) Smith-Lemli-Opitz Syndrome Indicates testing recommended Methylmalonic Acidemia, Pendred Syndrome (SLC26A4) (DHCR7) by ACOG cblA Type (MMAA) Peroxisome Biogenesis Disorder, Spastic Paraplegia, Type 15

Methylmalonic Acidemia, Type 3 (PEX12) (ZFYVE26) Indicates testing recommended cblB Type (MMAB) Peroxisome Biogenesis Disorder, Spinal Muscular Atrophy (SMN1)* by ACMG Methylmalonic Aciduria and Type 4 (PEX6) Homocystinuria, cblC Type Peroxisome Biogenesis Disorder, Spondylothoracic Dysostosis Indicates X-linked disorders (MMACHC) Type 5 (PEX2) (MESP2) MKS1-Related Disorders (MKS1) Peroxisome Biogenesis Disorder, Steroid-Resistant Nephrotic Mucolipidosis III Gamma (GNPTG) Type 6 (PEX10) Syndrome (NPHS2) *Analyzed using targeted genotyping

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