32470 Carrier Pg1 and 2 Kr V7 Final

Carrier Screening for Inherited Genetic Disorders

Certain genetic disorders have a similar incidence across all ethnicities; others occur more frequently in a select ethnic group. Because these disorders are inherited in an autosomal recessive or X-linked manner, your patient may be at risk for being a carrier for a genetic disorder without even knowing it. We o er carrier screening for a large number of diseases. What kind of disorders can Mount Sinai Genetic Testing Laboratory screen for? Each disease we o er screening for can severely impact an individual’s life in one way or another: • Some diseases shorten lifespan • Most diseases require lifelong treatment • Others have no treatment or curative options and management • Certain diseases cause physical impairment • Oftentimes, multiple organ systems are a ected • While others cause mental impairment • Some disorders are lethal in utero

What diseases should my patients be tested for? Talk to your account manager about developing one or several customized panels to suit your patients’ needs.

Suggested panel for individuals of Ashkenazi Jewish Suggested standard pan-ethnic panel for individuals of background: non-Jewish background*:

• Abetalipoproteinemia • Lipoamide Dehydrogenase • Cystic Fibrosis • Alport Syndrome, Deficiency (E3) • Fragile X Syndrome Autosomal Recessive • Maple Syrup Urine • Spinal Muscular Atrophy (including enhanced SMA testing for • Arthrogryposis, Mental Disease Ib more accurate residual risk estimates) Retardation and Seizures • Mucolipidosis IV • Smith-Lemli-Opitz Syndrome • Bardet-Biedl Syndrome, • Multiple Sulphatase * Screening for hemoglobinopathies by CBC and Hemoglobin BBS2-Related Deficiency Electrophoresis is recommended for individuals of African, Asian, • Bloom Syndrome • Nemaline Myopathy, Hispanic, and Mediterranean ethnicity. Follow up DNA testing is available through Mount Sinai Genetic Testing Laboratory. • Canavan Disease NEB-Related • Carnitine • Niemann-Pick Disease Palmitoyltransferase II A and B How are these disorders inherited? Deficiency • 3-Phosphoglycerate • Congenital Amegakaryocytic Dehydrogenase Deficiency Thrombocytopenia • Polycystic Kidney Disease, • Congenital Disorder of Autosomal Recessive Glycosylation Ia • Retinitis Pigmentosa 59 • Cystic Fibrosis • Smith-Lemli-Opitz • Dyskeratosis Congenita, Syndrome Autosomal Recessive • Spinal Muscular Atrophy • Ehlers-Danlos VIIC • Tay-Sachs disease (by DNA • Familial Dysautonomia and enzyme) Familial Hyperinsulinism, • Tyrosinemia I Autosomal Recessive: (Screening of both members of a couple can • occur concurrently or sequentially). ABCC8-Related • Usher Syndrome IF • Fanconi Anemia C • Usher Syndrome III • Fragile X Syndrome • Walker-Warburg Syndrome, • Galactosemia FKTN-Related • Gaucher Disease • Wilson Disease • Glycogen Storage Disease Ia • Zellweger Syndrome, • Joubert Syndrome 2 PEX2-Related

X-Linked: (Screening for these conditions usually takes place on the female member of the couple).

Mount Sinai Genetic Testing Laboratory T: 212-241-7518 1428 Madison Avenue, Atran Building, Room 2-25 F: 212-241-0139 New York, NY 10029 icahn.mssm.edu/genetictesting Carrier Screening for Inherited Genetic Disorders

Mount Sinai Genetic Testing Laboratory Expanded Pan-Ethnic Panel The following is a list of all the diseases for which carrier screening may be ordered: Abetalipoproteinemia* Fanconi Anemia C* Niemann-Pick Disease C Achromatopsia Fragile X Syndrome* Niemann-Pick Disease A and B* Alkaptonuria Galactosemia* Nijmegen Breakage Syndrome Alpha-Mannosidosis Gaucher Disease* Northern Epilepsy Alport Syndrome, GJB2-Related DFNB 1 Nonsyndromic Pendred Syndrome Autosomal Recessive* Hearing Loss and Deafness Phenylalanine Hydroxylase Deficiency Andermann Syndrome (Connexin 26) 3-Phosphoglycerate Dehydrogenase ARSACS Glutaric Acidemia 1 Deficiency* Aspartylglycosaminuria Glycogen Storage Disease Ia* Polycystic Kidney Disease, Autosomal Ataxia with Vitamin E Deficiency Glycogen Storage Disease Ib Recessive* Ataxia-Telangiectasia Glycogen Storage Disease III Polyglandular Autoimmune Syndrome 1 Arthrogryposis, Mental Retardation Glycogen Storage Disease V Pompe Disease and Seizures* GRACILE Syndrome PPT1-Related Neuronal Ceroid Bardet-Biedl Syndrome, BBS1-Related Hereditary Fructose Intolerance Lipofuscinosis Bardet-Biedl Syndrome, BBS2-Related* Hereditary Thymine-Uraciluria Primary Carnitine Deficiency Bardet-Biedl Syndrome, BBS10-Related Herlitz Junctional Epidermolysis Bullosa, Primary Hyperoxaluria 1 Beta Thalassemia LAMA3-Related Primary Hyperoxaluria 2 Biotinidase Deficiency Herlitz Junctional Epidermolysis Bullosa, PROP1-Related Combined Pituitary Bloom Syndrome* LAMB3-Related Hormone Deficiency Canavan Disease* Herlitz Junctional Epidermolysis Bullosa, Pycnodysostosis Carnitine Palmitoyltransferase IA LAMC2-Related Retinitis Pigmentosa 59* Deficiency Homocystinuria Caused by Rhizomelic Chondrodysplasia Carnitine Palmitoyltransferase II Cystathionine Beta-Synthase Punctata 1 Deficiency* Deficiency Salla Disease Cartilage-Hair Hypoplasia Hurler Syndrome Sandho Disease (by enzyme) Choroideremia Hypophosphatasia, Autosomal Segawa Syndrome Recessive Citrullinemia 1 Sickle Cell Disease Inclusion Body Myopathy 2 CLN3-Related Neuronal Ceroid Sjogren-Larsson Syndrome Isovaleric Acidemia Lipofuscinosis Smith-Lemli-Opitz Syndrome* Joubert Syndrome 2* CLN5-Related Neuronal Ceroid Spinal Muscular Atrophy* Krabbe Disease Lipofuscinosis Steroid-Resistant Nephrotic Syndrome Limb-Girdle Muscular Dystrophy 2D Cohen Syndrome Sulfate Transporter-Related Congenital Amegakaryocytic Limb-Girdle Muscular Dystrophy 2E Osteochondrodysplasia Thrombocytopenia* Lipoamide Dehydrogenase Tay-Sachs disease Congenital Disorder of Glycosylation Ia* Deficiency (E3)* (by DNA and enzyme)* Congenital Disorder of Glycosylation Ib Long Chain 3-Hydroxyacyl-CoA TPP1-Related Neuronal Ceroid Congenital Finnish Nephrosis Dehydrogenase Deficiency Lipofuscinosis Coste Optic Atrophy Syndrome Maple Syrup Urine Disease Ib* Tyrosinemia I* Cystic Fibrosis* Medium Chain Acyl-CoA Usher Syndrome IF* Dehydrogenase deficiency Cystinosis Usher Syndrome III* Megalencephalic Very Long Chain Acyl-CoA D-Bifunctional Protein Deficiency Leukoencephalopathy with Dehydrogenase Deficiency Dyskeratosis Congenita, Subcortical Cysts Walker-Warburg Syndrome, Autosomal Recessive * Metachromatic Leukodystrophy FKTN-Related* Ehlers-Danlos VIIC* Mucolipidosis IV* Wilson Disease* Familial Dysautonomia* Multiple Sulphatase Deficiency* X-Linked Juvenile Retinoschisis Familial Hyperinsulinism, Muscle-Eye-Brain Disease ABCC8-Related * Zellweger Syndrome, PEX1-Related Nemaline Myopathy, NEB-Related* Familial Mediterranean Fever Zellweger Syndrome, PEX2-Related* *Diseases included in our Askhkenzai Jewish Panel

Mount Sinai Genetic Testing Laboratory T: 212-241-7518 1428 Madison Avenue, Atran Building, Room 2-25 F: 212-241-0139 New York, NY 10029 icahn.mssm.edu/genetictesting