Universal Panel Disease List

MYRIAD FORESIGHT® CARRIER SCREEN

UNIVERSAL PANEL DISEASE LIST The Myriad Foresight Carrier Screen focuses on serious, clinically-actionable, and prevalent conditions to ensure you are providing meaningful information to your patients.

11-Beta-Hydroxylase-Deficient Bardet-Biedl Syndrome, Congenital Disorder of Fragile X Syndrome (FMR1)* Congenital Adrenal Hyperplasia BBS10-Related (BBS10) Glycosylation, MPI-Related (CYP11B1) (MPI) Bardet-Biedl Syndrome, Galactokinase Deficiency 6-Pyruvoyl-Tetrahydropterin BBS12-Related (BBS12) Congenital Disorder of (GALK1) Synthase Deficiency PTS( ) Glycosylation, Type Ia (PMM2) Bardet-Biedl Syndrome, Galactosemia (GALT) ABCC8-Related Familial BBS2-Related (BBS2) Congenital Disorder of Glycosylation, Type Ic (ALG6) Gamma-Sarcoglycanopathy Hyperinsulinism (ABCC8) BCS1L-Related Disorders (SGCG) (BCS1L) Costeff Optic Atrophy Adenosine Deaminase Gaucher Disease (GBA)* Deficiency ADA( ) Beta-Sarcoglycanopathy Syndrome (OPA3) GJB2-Related DFNB1 Adrenoleukodystrophy: (including Limb-Girdle Muscular Cystic Fibrosis (CFTR) Dystrophy, Type 2E) (SGCB) Nonsyndromic Hearing Loss X-Linked (ABCD1) Cystinosis (CTNS) and Deafness (including two Biotinidase Deficiency BTD( ) Alpha Thalassemia (HBA1/ D-Bifunctional Protein GJB6 deletions) (GJB2) Bloom Syndrome (BLM) HBA2)* Deficiency HSD17B4( ) GLB1-Related Disorders (GLB1) Calpainopathy (CAPN3) Alpha-Mannosidosis (MAN2B1) Delta-Sarcoglycanopathy GLDC-Related Glycine Alpha-Sarcoglycanopathy Canavan Disease (ASPA) (SGCD) Encephalopathy (GLDC) (including Limb-Girdle Muscular Carbamoylphosphate Dihydrolipoamide Glutaric Acidemia, GCDH- Dystrophy, Type 2D) (SGCA) Synthetase I Deficiency CPS1( ) Dehydrogenase Deficiency Related (GCDH) Carnitine Palmitoyltransferase (DLD) Alport Syndrome, X-Linked Glycogen Storage Disease, IA Deficiency CPT1A( ) (COL4A5) Dysferlinopathy (DYSF) Type Ia (G6PC) Carnitine Palmitoyltransferase II Alstrom Syndrome (ALMS1) Dystrophinopathies (including Glycogen Storage Disease, Deficiency CPT2( ) AMT-Related Glycine Duchenne/Becker Muscular Type Ib (SLC37A4) Cartilage-Hair Hypoplasia (RMRP) Dystrophy)(DMD) Encephalopathy (AMT) Glycogen Storage Disease, Cerebrotendinous Andermann Syndrome ERCC6-Related Disorders Type III (AGL) Xanthomatosis (CYP27A1) (ERCC6) (SLC12A6) GNE Myopathy (GNE) Citrullinemia, Type 1 (ASS1) ERCC8-Related Disorders Argininemia (ARG1) GNPTAB-Related Disorders CLN3-Related Neuronal Ceroid (ERCC8) Argininosuccinic Aciduria (ASL) (GNPTAB) Lipofuscinosis (CLN3) EVC-Related Ellis-Van Creveld Aspartylglycosaminuria (AGA) CLN5-Related Neuronal Ceroid Syndrome (EVC) HADHA-Related Disorders Lipofuscinosis (CLN5) (including Long Chain Ataxia with Vitamin E Deficiency EVC2-Related Ellis-Van Creveld 3-Hydroxyacyl-CoA (TTPA) CLN6-Neuronal Ceroid Syndrome (EVC2) Dehydrogenase Deficiency) Lipofuscinosis, Type 6 (CLN6) Ataxia-Telangiectasia (ATM) Fabry Disease (GLA) (HADHA) CLN8-Related Neuronal Ceroid ATP7A-Related Disorders Familial Dysautonomia (IKBKAP) Hb Beta Chain-Related Lipofuscinosis (CLN8) (ATP7A) Hemoglobinopathy (including Cohen Syndrome (VPS13B) Beta Thalassemia and Sickle Autoimmune Polyglandular Familial Mediterranean Fever Cell Disease)(HBB) Syndrome Type 1 (AIRE) COL4A3-Related Alport (MEFV) Syndrome (COL4A3) Hereditary Fructose Intolerance Autosomal Recessive Fanconi Anemia (ALDOB) Osteopetrosis, Type 1 (TCIRG1) COL4A4-Related Alport Complementation, Group A Syndrome (COL4A4) Herlitz Junctional Epidermolysis Autosomal Recessive Polycystic (FANCA) Bullosa, LAMB3-Related Kidney Disease, PKHD1- Combined Pituitary Hormone Fanconi Anemia, FANCC- (LAMB3) Related (PKHD1) Deficiency, PROP1-Related Related (FANCC) (PROP1) Hexosaminidase A Deficiency Autosomal Recessive Spastic FKRP-Related Disorders (FKRP) (including Tay-Sachs Disease) Ataxia of Charlevoix-Saguenay Congenital Adrenal FKTN-Related Disorders (HEXA) (SACS) Hyperplasia, CYP21A2-Related (including Walker-Warburg (CYP21A2)* HMG-CoA Lyase Deficiency Bardet-Biedl Syndrome, Syndrome) (FKTN) (HMGCL) BBS1-Related (BBS1) Holocarboxylase Synthetase MKS1-Related Disorders (MKS1) Peroxisome Biogenesis TPP1-Related Neuronal Ceroid Deficiency HLCS( ) Mucolipidosis III Gamma Disorder, Type 5 (PEX2) Lipofuscinosis (TPP1) Homocystinuria, CBS-Related (GNPTG) Peroxisome Biogenesis Tyrosine Hydroxylase Deficiency (CBS) Mucolipidosis IV (MCOLN1) Disorder, Type 6 (PEX10) (TH) Hydrolethalus Syndrome Phenylalanine Hydroxylase Tyrosinemia, Type I (FAH) (HYLS1) Mucopolysaccharidosis, Type I Deficiency PAH( ) Tyrosinemia, Type II (TAT) Hypophosphatasia (ALPL) (including Hurler Syndrome) POMGNT-Related Disorders USH1C-Related Disorders Isovaleric Acidemia (IVD) (IDUA) (POMGNT1) (USH1C) Joubert Syndrome 2 Mucopolysaccharidosis, Pompe Disease (GAA) USH2A-Related Disorders (TMEM216) Type II (IDS) PPT1-Related Neuronal Ceroid (USH2A) Lipofuscinosis (PPT1) Junctional Epidermolysis Mucopolysaccharidosis, Usher Syndrome, Type 3 Bullosa, LAMC2-Related Type IIIA (SGSH) Primary Carnitine Deficiency (CLRN1) (LAMC2) Mucopolysaccharidosis, (SLC22A5) Very Long Chain Acyl-CoA Type IIIB (NAGLU) Junctional Epidermolysis Primary Hyperoxaluria, Dehydrogenase Deficiency Bullosa, LAMA3-Related Mucopolysaccharidosis, Type 1 (AGXT) (ACADVL) (LAMA3) Type IIIC (HGSNAT) Primary Hyperoxaluria, Wilson Disease (ATP7B) KCNJ11-Related Familial MUT-Related Methylmalonic Type 2 (GRHPR) X-Linked Congenital Adrenal Hyperinsulinism (KCNJ11) Acidemia (MUT) Primary Hyperoxaluria, Hypoplasia (NR0B1) Krabbe Disease (GALC) MYO7A-Related Disorders Type 3 (HOGA1) X-Linked Juvenile Retinoschisis LAMA2-Related Muscular (MYO7A) Pycnodysostosis (CTSK) (RS1) Dystrophy (LAMA2) NEB-Related Nemaline Pyruvate Carboxylase X-Linked Myotubular Myopathy Leigh Syndrome, French- Myopathy (NEB) Deficiency PC( ) (MTM1) Canadian Type (LRPPRC) Nephrotic Syndrome, Rhizomelic Chondrodysplasia X-Linked Severe Combined Lipoid Congenital Adrenal NPHS1-Related (NPHS1) Punctata, Type 1 (PEX7) Immunodeficiency IL2RG( ) Hyperplasia (STAR) Niemann-Pick Disease, RTEL1-Related Disorders (RTEL1) Xeroderma Pigmentosum, SMPD1-Related (SMPD1) Group A (XPA) Lysosomal Acid Lipase Salla Disease (SLC17A5) Deficiency LIPA( ) Niemann-Pick Disease, Type C1 Xeroderma Pigmentosum, Sandhoff Disease (HEXB) Maple Syrup Urine Disease, (NPC1) Group C (XPC) Type Ia (BCKDHA) Niemann-Pick Disease, Type C2 Short Chain Acyl-CoA (NPC2) Dehydrogenase Deficiency Maple Syrup Urine Disease, (ACADS) Type Ib (BCKDHB) Nijmegen Breakage Syndrome Sjogren-Larsson Syndrome (NBN) Maple Syrup Urine Disease, (ALDH3A2) Type II (DBT) Ornithine Transcarbamylase Deficiency OTC( ) SLC26A2-Related Disorders Medium Chain Acyl-CoA (SLC26A2) Dehydrogenase Deficiency PCCA-Related Propionic Smith-Lemli-Opitz Syndrome (ACADM) Acidemia (PCCA) (DHCR7) Megalencephalic PCCB-Related Propionic Spastic Paraplegia, Type 15 Leukoencephalopathy with Acidemia (PCCB) (ZFYVE26) Subcortical Cysts (MLC1) Indicates disease listed in PCDH15-Related Disorders ACOG guidelines Metachromatic Leukodystrophy (including Usher Syndrome, Spinal Muscular Atrophy (ARSA) Type 1F) (PCDH15) (SMN1)*

Spondylothoracic Dysostosis Methylmalonic Acidemia, Pendred Syndrome (SLC26A4) Indicates disease listed in cblA Type (MMAA) (MESP2) Peroxisome Biogenesis ACMG guidelines Steroid-Resistant Nephrotic Methylmalonic Acidemia, Disorder, Type 1 (PEX1) cblB Type (MMAB) Syndrome (NPHS2) Peroxisome Biogenesis Indicates X-linked disorders TGM1-Related Autosomal Methylmalonic Aciduria and Disorder, Type 3 (PEX12) Homocystinuria, cblC Type Recessive Congenital Ichthyosis (MMACHC) Peroxisome Biogenesis (TGM1) Disorder, Type 4 (PEX6) *Analyzed using custom assay