COUNSYL FAMILY PREP SCREEN DISEASE LIST

UNIVERSAL PANEL Factor XI Deficiency Krabbe Disease PROP1-Related Combined Pituitary Hormone Deficiency ABCC8-Related Hyperinsulinism Familial Dysautonomia Limb-Girdle Muscular Dystrophy • Type 2D Pseudocholinesterase Achromatopsia Familial Mediterranean Fever • Type 2E Deficiency Alkaptonuria Fanconi Anemia Type C Lipoamide Dehydrogenase Pycnodysostosis Alpha-1 Antitrypsin Deficiency Fragile X Syndrome Deficiency (female specimens only) Rhizomelic Chondrodysplasia Alpha-Mannosidosis Long Chain 3-Hydroxyacyl-CoA Punctata Type 1 Galactosemia Dehydrogenase Deficiency Alpha Thalassemia Salla Disease Gaucher Disease Maple Syrup Urine Disease Type Andermann Syndrome Segawa Syndrome GJB2-Related DFNB 1 1B ARSACS Short Chain Acyl-CoA Nonsyndromic Hearing Loss and Medium Chain Acyl-CoA Dehydrogenase Deficiency Aspartylglycosaminuria Deafness Dehydrogenase Deficiency Sjogren-Larsson Syndrome Ataxia with Vitamin E Deficiency Glutaric Acidemia Type 1 Megalencephalic Ataxia-Telangiectasia Glycogen Storage Disease Leukoencephalopathy with Smith-Lemli-Opitz Syndrome Autosomal Recessive Polycystic • Type Ia Subcortical Cysts Spinal Muscular Atrophy Kidney Disease • Type Ib Metachromatic Leukodystrophy Steroid-Resistant Nephrotic • Type III Bardet-Biedl Syndrome Mucolipidosis IV Syndrome • Type V • BBS1-Related Muscle-Eye-Brain Disease Sulfate Transporter-Related • BBS10-Related GRACILE Syndrome Osteochondrodysplasia NEB-Related Nemaline Hb Beta Chain-Related Biotinidase Deficiency Myopathy Tyrosinemia Type I Hemoglobinopathy (including Bloom Syndrome Beta Thalassemia and Sickle Cell Neuronal Ceroid Lipofuscinosis Usher Syndrome Canavan Disease Disease) • CLN3-related • Type 1F • CLN5-related • Type 3 Carnitine Palmitoyltransferase IA Hereditary Fructose • PPT1-related Deficiency Intolerance Very Long Chain Acyl-CoA • TPP1-related Dehydrogenase Deficiency Carnitine Palmitoyltransferase II Hereditary Thymine-Uraciluria Niemann-Pick Disease Deficiency Wilson Disease Herlitz Junctional Epidermolysis • SMPD1-Associated Cartilage-Hair Hypoplasia Bullosa • Type C X-Linked Juvenile Retinoschisis LAMA3-Related Choroideremia • Nijmegen Breakage Syndrome • LAMB3-Related Cohen Syndrome • LAMC2-Related Northern Epilepsy Citrullinemia Type 1 Hexosaminidase A Deficiency Pendred Syndrome Indicates testing recommended Congenital Adrenal Hyperplasia (including Tay-Sachs Disease) PEX1-Related Zellweger by ACOG (CAH) Syndrome Spectrum Congenital Disorder of Glycosylation Homocystinuria Caused by Phenylalanine Hydroxylase Indicates testing recommended • Type 1a Cystathionine Beta-Synthase Deficiency by ACMG • Type 1b Deficiency Polyglandular Autoimmune Congenital Finnish Nephrosis Hurler Syndrome Syndrome Type 1 Costeff Optic Atrophy Hypophosphatasia, Autosomal Pompe Disease Syndrome Recessive Primary Carnitine Deficiency Cystic Fibrosis Inclusion Body Myopathy 2 Primary Hyperoxaluria Cystinosis Isovaleric Acidemia • Type 1 D-Bifunctional Protein Joubert Syndrome 2 • Type 2 Deficiency

Additional Information: Counsyl screening identifies but does not eliminate risk. Results are based on probabilities, and as such, cannot give 100% definitive conclusions, and cannot predict all disease. In addition to the Family Prep Screen, further testing options may be recommended to your patients. If only one member of a couple is of Ashkenazi Jewish background, a biochemical assay for Tay-Sachs disease can be performed.1 Individuals of African, Asian, and Mediterranean ancestry are at increased risk for being carriers for hemoglobinopathies and should also be offered carrier testing by CBC and hemoglobin electrophoresis or HPLC.2 1. S Gross, BA Pletcher, KG Monaghan. Carrier screening in individuals of Ashkenazi Jewish descent. Genetics in Medicine (2008) 10. 54–56. 2. ACOG, Hemoglobinopathies in pregnancy. ACOG Practice Bulletin No. 78. (2007), 1–9.