Family Prep 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 Gamma-Sarcoglycanopathy Congenital Adrenal Hyperplasia BBS12-Related (BBS12) (NPHS1) (SGCG) (CYP11B1) (5) Bardet-Biedl Syndrome, Costeff Optic Atrophy Syndrome Gaucher Disease (GBA)(10) 21-Hydroxylase-Deficient BBS2-Related (BBS2) (OPA3) GJB2-Related DFNB1 Congenital Adrenal Hyperplasia Beta-Sarcoglycanopathy (SGCB) Cystic Fibrosis (CFTR) Nonsyndromic Hearing Loss and (CYP21A2) (12) GJB2 Biotinidase Deficiency (BTD) Cystinosis (CTNS) Deafness ( ) 6-Pyruvoyl-Tetrahydropterin GLB1-Related Disorders (GLB1) Synthase Deficiency (PTS) Bloom Syndrome (BLM) D-Bifunctional Protein Deficiency Calpainopathy (CAPN3) (HSD17B4) GLDC-Related Glycine ABCC8-Related Familial Encephalopathy (GLDC) Hyperinsulinism (ABCC8) Canavan Disease (ASPA) Delta-Sarcoglycanopathy (SGCD) Glutaric Acidemia Type 1 (GCDH) Adenosine Deaminase Deficiency Carbamoylphosphate Synthetase I Dihydrolipoamide Dehydrogenase (ADA) Deficiency (CPS1) Deficiency (DLD) Glycogen Storage Disease, Type Ia (G6PC) Adrenoleukodystrophy: X-Linked Carnitine Palmitoyltransferase IA Dysferlinopathy (DYSF) Glycogen Storage Disease, (ABCD1) Deficiency (CPT1A) Dystrophinopathies (including Type Ib (SLC37A4) Alpha Thalassemia (HBA1/HBA2) Carnitine Palmitoyltransferase II Duchenne/Becker Muscular (13) Deficiency (CPT2) Dystrophy)(DMD) Glycogen Storage Disease, Type III (AGL) Alpha-Mannosidosis (MAN2B1) Cartilage-Hair Hypoplasia ERCC6-Related Disorders (ERCC6) GNPTAB-Related Disorders Alpha-Sarcoglycanopathy (SGCA) (RMRP) ERCC8-Related Disorders (ERCC8) (GNPTAB) Alport Syndrome, X-Linked Cerebrotendinous Xanthomatosis EVC-Related Ellis-Van Creveld GRACILE Syndrome (BCS1L) (COL4A5) (CYP27A1) Syndrome (EVC) HADHA-Related Disorders Alstrom Syndrome (ALMS1) Citrullinemia Type 1 (ASS1) EVC2-Related Ellis-Van Creveld (HADHA) AMT-Related Glycine CLN3-Related Neuronal Ceroid Syndrome (EVC2) Hb Beta Chain-Related Encephalopathy (AMT) Lipofuscinosis (CLN3) Fabry Disease (GLA) Hemoglobinopathy (HBB) Andermann Syndrome (SLC12A6) CLN5-Related Neuronal Ceroid Familial Dysautonomia (IKBKAP) Hereditary Fructose Intolerance Lipofuscinosis (CLN5) Argininemia (ARG1) (ALDOB) CLN6-Neuronal Ceroid Familial Hyperinsulinemic Argininosuccinic Aciduria (ASL) Hexosaminidase A Deficiency Lipofuscinosis Type 6 (CLN6) Hypoglycemia Type 1 (ABCC8) (including Tay-Sachs Disease) ARSACS (SACS) Cohen Syndrome (VPS13B) Fanconi Anemia Complementation, (HEXA) Aspartylglycosaminuria (AGA) COL4A3-Related Alport Group A (FANCA) HMG-CoA Lyase Deficiency Ataxia with Vitamin E Deficiency Syndrome (COL4A3) Fanconi Anemia Complementation, (HMGCL) (TTPA) COL4A4-Related Alport Group C (FANCC) Holocarboxylase Synthetase Ataxia-Telangiectasia (ATM) Syndrome (COL4A4) FKRP-Related Disorders (FKRP) Deficiency (HLCS) ATP7A-Related Disorders Combined Pituitary Hormone FKTN-Related Disorders Homocystinuria caused by (ATP7A) Deficiency, Type 2 (PROP1) (including Walker-Warburg Cystathionine Beta-Synthase Autosomal Recessive Congenital Disorder of Syndrome) (FKTN) Deficiency (CBS) Osteopetrosis, Type 1 (TCIRG1) Glycosylation, Type Ia (PMM2) Fragile X Syndrome (FMR1) (1) Hydrolethalus Syndrome (HYLS1) Bardet-Biedl Syndrome, Congenital Disorder of Galactokinase Deficiency Hypophosphatasia, Autosomal BBS1-Related (BBS1) Glycosylation, Type Ib (MPI) (GALK1) Recessive (ALPL) Bardet-Biedl Syndrome, Congenital Disorder of Galactosemia (GALT) Inclusion Body Myopathy 2 (GNE) BBS10-Related (BBS10) Glycosylation, Type Ic (ALG6) Isovaleric Acidemia (IVD) Mucopolysaccharidosis, Phenylalanine Hydroxylase Tyrosinemia, Type II (TAT) Joubert Syndrome 2 (TMEM216) Type II (IDS) Deficiency (PAH) USH1C-Related Disorders Junctional Epidermolysis Bullosa, Mucopolysaccharidosis, PKHD1-Related Autosomal (USH1C) LAMA3-Related (LAMA3) Type IIIA (SGSH) Recessive Polycystic Kidney USH2A-Related Disorders Disease (PKHD1) Junctional Epidermolysis Bullosa, Mucopolysaccharidosis, (USH2A) LAMB3-Related (LAMB3) Type IIIB (NAGLU) Polyglandular Autoimmune Usher Syndrome, Type 3 (CLRN1) Mucopolysaccharidosis, Syndrome Type 1 (AIRE) Junctional Epidermolysis Bullosa, Very Long Chain Acyl-CoA Type IIIC (HGSNAT) LAMC2-Related (LAMC2) Pompe Disease (GAA) Dehydrogenase Deficiency KCNJ11-Related Familial Muscle-Eye-Brain Disease Primary Carnitine Deficiency (ACADVL) (POMGNT1) Hyperinsulinism (KCNJ11) (SLC22A5) Wilson Disease (ATP7B) MYO7A-Related Disorders Krabbe Disease (GALC) Primary Hyperoxaluria, X-Linked Congenital Adrenal (MYO7A) Type 1 (AGXT) Leigh Syndrome, French- Hypoplasia (NR0B1) Nemaline Myopathy Type 2 (NEB) Canadian Type (LRPPRC) Primary Hyperoxaluria, X-Linked Severe Combined Type 2 (GRHPR) Lipoid Congenital Adrenal Neuronal Ceroid Lipofuscinosis Immunodeficiency (IL2RG) Type 1 (PPT1) Primary Hyperoxaluria, Hyperplasia (STAR) X-Linked Juvenile Retinoschisis Type 3 (HOGA1) Lysosomal Acid Lipase Deficiency Niemann-Pick Disease, (RS1) Type C (NPC1) Pycnodysostosis (CTSK) (LIPA) X-Linked Myotubular Myopathy Maple Syrup Urine Disease, Niemann-Pick Disease, Pyruvate Carboxylase Deficiency (MTM1) Type C2 (NPC2) (PC) Type Ia (BCKDHA) Xeroderma Pigmentosum, Maple Syrup Urine Disease, Niemann-Pick Disease, SMPD1- RTEL1-Related Disorders (RTEL1) Group A (XPA) Associated (SMPD1) Type Ib (BCKDHB) Salla Disease (SLC17A5) Xeroderma Pigmentosum, Nijmegen Breakage Syndrome Maple Syrup Urine Disease, Sandhoff Disease (HEXB) Group C (XPC) Type II (DBT) (NBN) Segawa Syndrome (TH) Medium Chain Acyl-CoA Northern Epilepsy (CLN8) Short Chain Acyl-CoA Dehydrogenase Deficiency Ornithine Transcarbamylase Dehydrogenase Deficiency (ACADM) Deficiency (OTC) (ACADS) Megalencephalic PCCA-Related Propionic Acidemia Sjogren-Larsson Syndrome Leukoencephalopathy with (PCCA) Subcortical Cysts (MLC1) (ALDH3A2) PCCB-Related Propionic Acidemia Smith-Lemli-Opitz Syndrome Merosin-Deficient Muscular (PCCB) Dystrophy (LAMA2) (DHCR7) PCDH15-Related Disorders Spastic Paraplegia Type 15 Metachromatic Leukodystrophy (including Usher Syndrome, Type (ZFYVE26) (ARSA) 1F) (PCDH15) Spinal Muscular Atrophy (SMN1) Methylmalonic Acidemia, Pendred Syndrome (SLC26A4) cblA Type (MMAA) (1) Peroxisome Biogenesis Disorder, Spondylothoracic Dysostosis Methylmalonic Acidemia, Type 1 (PEX1) cblB Type (MMAB) (MESP2) Indicates testing recommended Peroxisome Biogenesis Disorder, by ACOG Methylmalonic Acidemia, Type 3 (PEX12) Steroid-Resistant Nephrotic MUT-Related (MUT) Syndrome (NPHS2) Peroxisome Biogenesis Disorder, Methylmalonic Aciduria and Type 4 (PEX6) Sulfate Transporter-Related Indicates testing recommended Homocystinuria, cblC Type Osteochondrodysplasia by ACMG (MMACHC) Peroxisome Biogenesis Disorder, (SLC26A2) Type 5 (PEX2) MKS1-Related Disorders (MKS1) TGM1-Related Autosomal Indicates X-linked disorders Peroxisome Biogenesis Disorder, Recessive Congenital Ichthyosis Mucolipidosis III Gamma (GNPTG) Type 6 (PEX10) (TGM1) Mucolipidosis IV (MCOLN1) Peroxisome Biogenesis Disorder TPP1-Related Neuronal Ceroid Mucopolysaccharidosis, Type I Type 9 (aka Rhizomelic Lipofuscinosis (TPP1) Number in parenthesis represents the (including Hurler Syndrome) Chondrodysplasia Punctata Type 1) Tyrosinemia, Type I (FAH) number of variants analyzed using targeted (IDUA) (PEX7) genotyping.
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