CLINICAL AND HUMAN TESTING

Transcription

1 CLINICAL AND HUMAN TESTING CARRIER SCREENING FOR FAMILY PLANNING Let knowledge be your guide. Identify genetic conditions before or during a pregnancy to help predict the chances of having a child with a genetic disorder.

2 HerediT CF Highly accurate carrier screen for clinically relevant cystic fibrosis mutations. A direct answer about a common genetic disorder. For couples considering having a child or those with a family history of cystic fibrosis, male infertility or for whom an ultrasound has indicated an increased risk for cystic fibrosis, the HerediT Cystic Fibrosis Carrier Screening laboratory-developed test provides highly accurate results on clinically relevant mutations. TEST PERFORMANCE DATA The HerediT Cystic Fibrosis carrier screening test includes the most comprehensive number of disease-causing mutations available (136 mutations). The performance characteristics of the HerediT CF test have been analytically validated using CFTR gene mutations shown to be phenotypically relevant.1,2,3. ETHNICITY DETECTION RATE POPULATION RISK RESIDUAL RISK AFTER A NEGATIVE SCREEN Caucaisan Ashkenazi 93% 1/25 1/344 Jewish 95% 1/24 1/461 Hispanic 82% 1/58 1/318 African American 76% 1/61 1/251 Asian 76% 1/25 1/208 1: Clinical and functional translation of CFTR. US CF Foundation, Johns Hopkins University, The Hospital for Sick Children Web site. Accessed Oct 4, : Update on Carrier Screening for Cystic Fibrosis, ACOG Committee Opinion No Obstet Gynecol. 2011;117(4): : Paladino T, et al. Comprehensive Cystic Fibrosis Screening Panel for the Detection of Clinically Relevant Mutations. Poster session presented at: American College of Medical Genetics and Genomics Annual Clinical Genetics Meeting; 2013 June 20-23; Phoenix, AZ. Should you test your patients? More than 10 million Americans are carriers of the CF genetic mutation from across all racial and ethnic groups. The American Congress of Obstetricians and Gynecologists (ACOG) Committee on Genetics recommends cystic fibrosis carrier screening for all patients who are planning a pregnancy or seeking prenatal care. How is the test performed? The HerediT Cystic Fibrosis Carrier Screen test is performed on a simple blood or buccal (cheek) swab sample and results are typically reported within 20 working days.

3 HerediT UNIVERSAL Customizable, comprehensive carrier screening for 250+ genetic disorders. Clearly defined results. Clearly defined risks. The HerediT UNIVERSAL laboratory-developed test screens for mutations associated with more than 250 clinically relevant and impactful genetic conditions and presents categorized results to help with both interpretation and counseling. CUSTOMIZABLE TO MEET YOUR PARENT S NEEDS We offer three options for your convenience: COMPLETE PANEL The comprehensive option designed to test for mutations in over 250 genetic disorders. STANDARD PANEL Test for disorders guided by ACOG and ACMG recommendatioons. JEWISH ANCESTRY PANEL Test for over 65 conditions common in the Ashkenazi and Sephardic populations How is the test performed? The HerediT UNIVERSAL test is performed on a simple blood or buccal (cheek) swab sample and results are typically reported within 20 working days. How is the test performed? The HerediT Cystic Fibrosis Carrier Screen test is performed on a simple blood or buccal (cheek) swab sample and results are typically reported within 20 working days.

4 DISEASE LIST The following diseases are included in the HerediT UNIVERSAL test. *Standard panel Jewish Ancestry Panel [ACOG] = Recommended by ACOG [ACMG] = Recommended by ACMG Gene specific sequencing is available for most disorders. 11-Beta-Hydroxylase-Deficient Congenital Adrenal Hyperplasia 17-Alpha Hydroxylase 17-Beta Hydroxysteroid Dehydrogenase 3 21-Hydroxylase-Deficient Classical Congenital Adrenal Hyperplasia 21-Hydroxylase-Deficient Nonclassical Congenital Adrenal Hyperplasia 3-Beta-Hydroxysteroid Dehydrogenase 3-Methylcrotonyl-CoA Carboxylase : MCCA Related 3-Methylcrotonyl-CoA Carboxylase : MCCB Related 3-Methylglutaconic Aciduria: Type 3 3-Phosphoglycerate Dehydrogenase 5-Alpha Reductase 6-Pyruvoyl-Tetrahydropterin Synthase Abetalipoproteinemia Achromatopsia: CNGB3 Related Acrodermatitis Enteropathica Acyl-CoA Oxidase I Adenosine Deaminase Adrenoleukodystrophy: X-Linked Alkaptonuria Alpha Thalassemia [ACOG]* Alpha-1-Antitrypsin Alpha-Mannosidosis Alport Syndrome: COL4A3 Related Alport Syndrome: COL4A4 Related Alport Syndrome: X-linked Amegakaryocytic Thrombocytopenia Andermann Syndrome Androgen Insensitivity Syndrome: Complete Antley-Bixler Syndrome Argininosuccinate Lyase Aromatase ARSACS Arts Syndrome Aspartylglycosaminuria Ataxia with Vitamin E Ataxia-Telangiectasia Autosomal Recessive Polycystic Kidney Disease BBS1 Related BBS2 Related BBS10 Related BBS11 Related BBS12 Related Bare Lymphocyte Syndrome: Type II Bartter Syndrome: Type 4A Beta Thalassemia [ACOG]* Beta-Hexosaminidase Pseudodeficiency Beta-Ketothiolase Biotinidase Bloom Syndrome [ACMG]* Canavan Disease [ACOG/ACMG]* Carnitine Palmitoyltransferase IA Carnitine Palmitoyltransferase II Carpenter Syndrome Cartilage-Hair Hypoplasia Cerebrotendinous Xanthomatosis Charcot-Marie-Tooth Disease with Deafness: X-Linked: GJB1 Related Charcot-Marie-Tooth Disease with Deafness: X-Linked: PRPS1 Related Cholesteryl Ester Storage Disease Choreoacanthocytosis Choroideremia Chronic Granulomatous Disease: X-Linked Citrullinemia: Type I Classical Galactosemia Cohen Syndrome Combined Pituitary Hormone : PROP1 Related Congenital Disorder of Glycosylation: Type 1A: PMM2 Related Congenital Disorder of Glycosylation: Type 1B: MPI Related Congenital Disorder of Glycosylation: Type 1C: ALG6 Related Congenital Lipoid Adrenal Hyperplasia Congenital Neutropenia: Recessive Copper Transport Disorders Corneal Dystrophy and Perceptive Deafness Corticosterone Methyloxidase Creatine Transporter Defect Crigler-Najjar Syndrome Cystic Fibrosis [ACOG/ACMG]* Cystinosis D-Bifunctional Protein Diabetes: Recessive Permanent Neonatal Dihydropyrimidine Dehydrogenase Du Pan Syndrome Dystrophic Epidermolysis Bullosa: Recessive Ehlers-Danlos Syndrome: Type VIIC Ellis-van Creveld Syndrome: EVC Related Ellis-van Creveld Syndrome: EVC2 Related Emery-Dreifuss Myopathy: X-Linked Enhanced S-Cone Ethylmalonic Aciduria Fabry s Disease Factor IX Factor VIII Familial Chloride Diarrhea Familial Dysautonomia [ACOG/ ACMG]* Familial Hyperinsulinism: Type 1: ABCC8 Related Familial Hyperinsulinism: Type 2: KCNJ11 Related Familial Mediterranean Fever Familial Mediterranean Fever: Mild Form Fanconi Anemia: Type A Fanconi Anemia: Type C [ACMG]* Fanconi Anemia: Type G Fanconi Anemia: Type J Fragile X Syndrome* Fumarase Galactokinase Gaucher Disease [ACMG]* Gitelman Syndrome Globoid Cell Leukodystrophy Glucose-6-Phosphate Dehydrogenase Glutaric Acidemia: Type I Glycine Encephalopathy: AMT Related Glycine Encephalopathy: GLDC Related Type IA Type IB Type II Type III Type IV Type V Type VII GM1-Gangliosidoses GRACILE Syndrome Guanidinoacetate Methyltransferase Hemochromatosis: Type 2A: HFE2 Related Hemochromatosis: Type 3: TFR2 Related Hemoglobinopathy: Hb C [ACOG]* Hemoglobinopathy: Hb D [ACOG]* Hemoglobinopathy: Hb E [ACOG]* Hemoglobinopathy: Hb O [ACOG]* Hereditary Fructose Intolerance Herlitz Junctional Epidermolysis Bullosa: LAMB3 Related

5 Hermansky-Pudlak Syndrome: Type 1 Hermansky-Pudlak Syndrome: Type 3 HMG-CoA Lyase Holocarboxylase Synthetase Homocystinuria Caused by CBS Hunter Syndrome Hurler Syndrome Hypohidrotic Ectodermal Dysplasia: X-Linked Hypophosphatasia Inclusion Body Myopathy: Type 2 Isovaleric Acidemia Joubert Syndrome Juvenile Retinoschisis: X-Linked Lamellar Ichthyosis: Type 1 Laryngoonychocutaneous Syndrome CEP290 Related GUCY2D Related LCA5 Related RDH12 Related Leigh Syndrome: French- Canadian Leydig Cell Hypoplasia Type 2A Type 2B Type 2C Type 2D Type 2E Type 2F Type 2I Lipoprotein Lipase Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Lysinuric Protein Intolerance Maple Syrup Urine Disease: Type 1A Maple Syrup Urine Disease: Type 1B Maple Syrup Urine Disease: Type 3 Meckel Syndrome: Type 1 Medium-Chain Acyl-CoA Dehydrogenase Metachromatic Leukodystrophy Methylmalonic Acidemia: MMAA Related Methylmalonic Acidemia: MMAB Related Methylmalonic Acidemia: MUT Related Methylmalonic Aciduria and Homocystinuria: Type cblc MTHFR : Severe Mucolipidosis: Type II/III Mucolipidosis: Type IV [ACMG]* Multiple Pterygium Syndrome Multiple Sulfatase Muscle-Eye-Brain Disease Myotubular Myopathy: X-Linked Navajo Neurohepatopathy Nemaline Myopathy: NEB Related Nephrotic Syndrome: Type 1 Nephrotic Syndrome: Type 2 CLN3 Related CLN5 Related CLN6 Related CLN8 Related MFSD8 Related PPT1 Related TPP1 Related Niemann-Pick Disease: Type A [ACMG]* Niemann-Pick Disease: Type B Niemann-Pick Disease: Type C1 Niemann-Pick Disease: Type C2 Nijmegen Breakage Syndrome Nonsyndromic Hearing Loss and Deafness: DFNB3 Related Nonsyndromic Hearing Loss and Deafness: GJB2 Related Oculocutaneous Albinism: Type 1 Oculocutaneous Albinism: Type 4 Omenn Syndrome Ornithine Transcarbamylase Ornithine Translocase Pendred Syndrome Persistent Mullerian Duct Syndrome: Type I Persistent Mullerian Duct Syndrome: Type II Phenylalanine Hydroxylase POLG Related Disorders: Autosomal Recessive Polyglandular Autoimmune Syndrome: Type 1 Primary Carnitine Primary Hyperoxaluria: Type 1 Primary Hyperoxaluria: Type 2 Primary Hyperoxaluria: Type 3 Progressive Familial Intrahepatic Cholestasis: Type 2 Propionic Acidemia: PCCA Related Propionic Acidemia: PCCB Related Pseudocholinesterase Pycnodysostosis Pyruvate Dehydrogenase : Autosomal Recessive Pyruvate Dehydrogenase : X-Linked Retinal Dystrophies: RLBP1 Related Retinitis Pigmentosa: Autosomal Recessive: DHDDS Related Rhizomelic Chondrodysplasia Punctata: Type 1 Salla Disease Sanfilippo Syndrome: Type A Sanfilippo Syndrome: Type B Sanfilippo Syndrome: Type C Sanfilippo Syndrome: Type D SCID: X-Linked Short-Chain Acyl-CoA Dehydrogenase Sickle-Cell Anemia [ACOG]* Sjogren-Larsson Syndrome Smith-Lemli-Opitz Syndrome Spinal Muscular Atrophy: SMN1 Related [ACMG]* Stargardt Disease Stuve-Wiedemann Syndrome Sulfate Transporter-Related Osteochondrodysplasia Tay-Sachs Disease [ACOG/ACMG]* Tyrosine Hydroxylase Tyrosinemia: Type I Usher Syndrome: Type 1B Usher Syndrome: Type 1C Usher Syndrome: Type 1D Usher Syndrome: Type 1F Usher Syndrome: Type 2A Usher Syndrome: Type 3 Very Long-Chain Acyl-CoA Dehydrogenase Walker-Warburg Syndrome Werner Syndrome Wilson Disease Wolcott-Rallison Syndrome PEX1 Related PEX2 Related PEX6 Related PEX10 Related

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