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Introducing the Universal Genetic Test

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Introducing the Universal Genetic Test Introducing the Universal Genetic Test Comprehensive $100,000+ The New Standard of Care • Test for cystic fibrosis, spinal muscular atrophy (SMA), Tay-Sachs disease, sickle cell disease and more than 100 other single gene FREE with disorders with a single saliva-based test. insurance (or just $349) • Individually rare, collectively common, these single gene disor- ders account for more than 10% of pediatric deaths and 80% occur in children with no known family history of the disorder. Convenient 100S OF TESTS 1 TEST Simple, Non-Invasive, and Cost-Effective • This single saliva-based assay is applicable to all ethnicities and encompasses major standard of care carrier tests. “I’m excited about • Counsyl provides a clear, easy-to-digest report that can be shared offering the Counsyl test and discussed with the patient. in my practice because it’s non-invasive, easy- • The test quickly identifies IVF patients who can benefit from to-use, comprehensive preimplantation genetic diagnosis (PGD). and cost-effective.” —Dr. Mohit Khera, Reliable Baylor College of Medicine Clinically Valid, Grounded In Well-Established Science • Designed by scientists from Stanford and Harvard, Counsyl’s Every adult of assay is 99.9% accurate for all targeted mutations and more “ reproductive age needs thorough than the single gene tests for many disorders. the Counsyl test. Counsyl’s CLIA-certified lab adheres to industry best practices ” • —Professor Pasquale Patrizio, MD in order to ensure the highest possible levels of accuracy and Director, Yale Fertility Center patient privacy. About Counsyl Counsyl is a medical genomics company founded by social entrepreneurs and philanthropists with the audacious belief that every child deserves a chance in life. With the Universal Genetic Test, many previously surprising 2200 Bridge Parkway, Suite 103 | Redwood City, CA 94065 and incurable childhood diseases can now be prevented. www.counsyl.com | [email protected] | (888) COUNSYL Disease List The following diseases are covered on Counsyl’s Universal Genetic Test, listed here with the number of mutations tested. AC OG = Testing for this disease recommended to be offered by ACOG AC MG = Testing for this disease recommended to be offered by ACMG CAUCASIAN MIDDLE EASTERN Homocystinuria Caused By Cystathionine Beta-Synthase Deficiency (2) AC AC AC AC OG MG Cystic Fibrosis (109) OG MG Cystic Fibrosis (109) Hurler Syndrome (2) AC AC MG Spinal Muscular Atrophy (1) Spinal Muscular Atrophy (1) MG Hyperornithinemia-Hyperammonemia- Autosomal Recessive Polycystic Kidney Beta Thalassemia (35) Homocitrullinuria Syndrome (1) Disease (5) Familial Mediterranean Fever (13) Hypophosphatasia, Autosomal Recessive (5) Medium Chain Acyl-CoA Dehydrogenase Phenylalanine Hydroxylase Deficiency (11) Deficiency (7) Inclusion Body Myopathy 2 (1) Phenylalanine Hydroxylase Deficiency (11) Infantile Refsum Disease (1) ADDITIONAL DISEASES Isovaleric Acidemia (1) ASHKENAZI JEWISH ABCC8-Related Hyperinsulinism (3) Krabbe Disease (3) Leigh Syndrome, French-Canadian Type (1) AC AC Achromatopsia (6) OG MG Tay-Sachs Disease (4) AC AC Alkaptonuria (7) Limb-Girdle Muscular Dystrophy Type 2E (1) OG MG Canavan Disease (4) AC AC Alpha-1 Antitrypsin Deficiency (2) Long Chain 3-Hydroxyacyl-CoA OG MG Cystic Fibrosis (109) Dehydrogenase Deficiency (2) AC AC Andermann Syndrome (2) OG MG Familial Dysautonomia (3) Maple Syrup Urine Disease Types AC ARSACS (2) MG Bloom Syndrome (2) 1B and 3 (5) AC Aspartylglycosaminuria (2) MG Gaucher Disease (9) Metachromatic Leukodystrophy (4) AC Ataxia With Vitamin E Deficiency (1) MG Fanconi Anemia Type C (4) Muscle-Eye-Brain Disease (1) AC Ataxia-Telangiectasia (1) MG Mucolipidosis IV (2) MYH-Associated Polyposis (1) AC Bardet-Biedl Syndrome (2) MG Niemann Pick Disease Type A (4) Neuronal Ceroid Lipofuscinosis (10) AC Biotinidase Deficiency (7) MG Spinal Muscular Atrophy (1) CLN5-, CLN8-, PPT1- and TPP1-related Carnitine Palmitoyltransferase IA Glycogen Storage Disease Type 1a (21) Niemann-Pick Disease Type C (4) Deficiency (2) Factor XI Deficiency (4) Nijmegen Breakage Syndrome (1) Carnitine Palmitoyltransferase II Deficiency (13) Pendred Syndrome (3) AFRICAN Cartilage-Hair Hypoplasia (2) Polyglandular Autoimmune Syndrome Type 1 (1) AC AC Choroideremia (1) OG MG Cystic Fibrosis (109) Primary Hyperoxaluria (4) AC Congenital Disorder Of Glycosylation (3) OG Sickle Cell Disease (37) Types 1 and 2 Types Ia and Ib AC MG Spinal Muscular Atrophy (1) Congenital Finnish Nephrosis (2) Pycnodysostosis (1) Cystinosis (4) Rhizomelic Chondrodysplasia Punctata Type 1 (2) ASIAN Factor V Leiden Thrombophilia (3) Salla Disease (2) AC AC OG MG Cystic Fibrosis (109) Fumarase Deficiency (1) Segawa Syndrome (1) AC OG Beta Thalassemia (35) Galactosemia (10) Short Chain Acyl-CoA Dehydrogenase AC GJB2-Related DFNB 1 Nonsyndromic MG Spinal Muscular Atrophy (1) Deficiency (2) Hearing Loss And Deafness (11) Glucose-6-Phosphate Dehydrogenase Sjogren-Larsson Syndrome (1) Deficiency (5) Glutaric Acidemia Type 1 (2) Smith-Lemli-Opitz Syndrome (11) Phenylalanine Hydroxylase Deficiency (11) Glycogen Storage Disease (21) Sulfate Transporter-Related Wilson Disease (5) Types Ib, III, V Oseochondrodysplasia (5) GRACILE Syndrome (1) Achondrogenesis Type 1B Hereditary Fructose Intolerance (4) HISPANIC Diastrophic Dysplasia Hereditary Thymine-Uraciluria (1) Recessive Multiple Epiphyseal Dysplasia AC AC OG MG Cystic Fibrosis (109) Herlitz Junctional Epidermolysis Bullosa (7) Tyrosinemia Type I (5) AC MG Spinal Muscular Atrophy (1) Hexosaminidase A Deficiency (8) Usher Syndrome (2) Sickle Cell Disease (37) HFE-Associated Hereditary Types 1F and 3 Phenylalanine Hydroxylase Deficiency (11) Hemochromatosis (11) X-Linked Juvenile Retinoschisis (3).
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