carrier screening for family planning -...

CLINICAL AND HUMAN TESTING

CARRIER SCREENINGFOR 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.

HerediT® CFHighly 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.

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.

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.

1: Clinical and functional translation of CFTR. US CF Foundation, Johns Hopkins University, The Hospital for Sick Children Web site. http://www.CFTR2.org. Accessed Oct 4, 2012.2: Update on Carrier Screening for Cystic Fibrosis, ACOG Committee Opinion No. 486. Obstet Gynecol. 2011;117(4):1028-1031.3: 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.

ETHNICITY DETECTIONRATE

POPULATION RISK

RESIDUAL RISK AFTER ANEGATIVE SCREEN

Caucaisan Ashkenazi 93% 1/25 1/344Jewish 95% 1/24 1/461Hispanic 82% 1/58 1/318African American 76% 1/61 1/251Asian 76% 1/25 1/208

HerediT® UNIVERSALCustomizable, comprehensive carrier screening for 250+ genetic disorders.

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.

CUSTOMIZABLE TO MEET YOUR PARENT’S NEEDS

We offer three options for your convenience:

COMPLETE PANEL

STANDARDPANEL

JEWISHANCESTRYPANEL

The comprehensive optiondesigned to test for mutations inover 250 genetic disorders.

Test for disorders guided by ACOGand ACMG recommendatioons.

Test for over 65 conditions commonin the Ashkenazi and Sephardicpopulations

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.

11-Beta-Hydroxylase-Deficient Congenital Adrenal Hyperplasia

17-Alpha Hydroxylase Deficiency

17-Beta Hydroxysteroid Dehydrogenase 3 Deficiency

21-Hydroxylase-Deficient Classical Congenital Adrenal Hyperplasia† 21-Hydroxylase-Deficient Nonclassical Congenital Adrenal Hyperplasia†3-Beta-Hydroxysteroid Dehydrogenase Deficiency

3-Methylcrotonyl-CoA Carboxylase Deficiency: MCCA Related

3-Methylcrotonyl-CoA Carboxylase Deficiency: MCCB Related

3-Methylglutaconic Aciduria: Type 3†3-Phosphoglycerate Dehydrogenase Deficiency

5-Alpha Reductase Deficiency

6-Pyruvoyl-Tetrahydropterin Synthase Deficiency

Abetalipoproteinemia† Achromatopsia: CNGB3 Related

Acrodermatitis Enteropathica

Acyl-CoA Oxidase I Deficiency

Adenosine Deaminase Deficiency

Adrenoleukodystrophy: X-Linked

Alkaptonuria

Alpha Thalassemia [ACOG]*†Alpha-1-Antitrypsin Deficiency

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 Deficiency

Aromatase Deficiency

ARSACS

Arts Syndrome

Aspartylglycosaminuria

Ataxia with Vitamin E Deficiency

Ataxia-Telangiectasia†Autosomal Recessive Polycystic Kidney Disease

Bardet-Biedl Syndrome: BBS1 Related





Bare Lymphocyte Syndrome: Type II

Bartter Syndrome: Type 4A

Beta Thalassemia [ACOG]*† Beta-Hexosaminidase Pseudodeficiency† Beta-Ketothiolase Deficiency

Biotinidase Deficiency

Bloom Syndrome [ACMG]*†Canavan Disease [ACOG/ACMG]*†Carnitine Palmitoyltransferase IA Deficiency

Carnitine Palmitoyltransferase II Deficiency† 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 Deficiency: 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 Deficiency†Creatine Transporter Defect

Crigler-Najjar Syndrome

Cystic Fibrosis [ACOG/ACMG]*†Cystinosis

D-Bifunctional Protein Deficiency

Diabetes: Recessive Permanent Neonatal

Dihydropyrimidine Dehydrogenase Deficiency

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 Deficiency

Factor VIII Deficiency

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 Deficiency

Galactokinase Deficiency

Gaucher Disease [ACMG]*† Gitelman Syndrome

Globoid Cell Leukodystrophy

Glucose-6-Phosphate Dehydrogenase Deficiency† Glutaric Acidemia: Type I

Glycine Encephalopathy: AMT Related

Glycine Encephalopathy: GLDC Related

Glycogen Storage Disease: Type IA†Glycogen Storage Disease: Type IB

Glycogen Storage Disease: Type II

Glycogen Storage Disease: Type III†Glycogen Storage Disease: Type IV†Glycogen Storage Disease: Type V

Glycogen Storage Disease: Type VII† GM1-Gangliosidoses

GRACILE Syndrome

Guanidinoacetate Methyltransferase Deficiency

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

DISEASE LIST The following diseases are included in the HerediT UNIVERSAL test. *Standard panel †Jewish Ancestry Panel [ACOG] = Recommended by ACOG [ACMG] = Recommended by ACMGGene specific sequencing is available for most disorders.

Hermansky-Pudlak Syndrome: Type 1

Hermansky-Pudlak Syndrome: Type 3

HMG-CoA Lyase Deficiency

Holocarboxylase Synthetase Deficiency

Homocystinuria Caused by CBS Deficiency

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

Leber Congenital Amaurosis: CEP290 Related

Leber Congenital Amaurosis: GUCY2D Related

Leber Congenital Amaurosis: LCA5 Related

Leber Congenital Amaurosis: RDH12 Related

Leigh Syndrome: French- Canadian

Leydig Cell Hypoplasia

Limb-Girdle Muscular Dystrophy: Type 2A

Limb-Girdle Muscular Dystrophy: Type 2B

Limb-Girdle Muscular Dystrophy: Type 2C

Limb-Girdle Muscular Dystrophy: Type 2D

Limb-Girdle Muscular Dystrophy: Type 2E

Limb-Girdle Muscular Dystrophy: Type 2F

Limb-Girdle Muscular Dystrophy: Type 2I

Lipoprotein Lipase Deficiency

Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency

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 Deficiency

Metachromatic Leukodystrophy†Methylmalonic Acidemia: MMAA Related

Methylmalonic Acidemia: MMAB Related

Methylmalonic Acidemia: MUT Related

Methylmalonic Aciduria and Homocystinuria: Type cblC

MTHFR Deficiency: Severe† Mucolipidosis: Type II/III

Mucolipidosis: Type IV [ACMG]*†Multiple Pterygium Syndrome

Multiple Sulfatase Deficiency

Muscle-Eye-Brain Disease

Myotubular Myopathy: X-Linked

Navajo Neurohepatopathy

Nemaline Myopathy: NEB Related†Nephrotic Syndrome: Type 1

Nephrotic Syndrome: Type 2

Neuronal Ceroid-Lipofuscinosis: CLN3 Related




Neuronal Ceroid-Lipofuscinosis: MFSD8 Related

Neuronal Ceroid-Lipofuscinosis: PPT1 Related

Neuronal Ceroid-Lipofuscinosis: 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 Deficiency

Ornithine Translocase Deficiency

Pendred Syndrome

Persistent Mullerian Duct Syndrome: Type I

Persistent Mullerian Duct Syndrome: Type II

Phenylalanine Hydroxylase Deficiency†POLG Related Disorders: Autosomal Recessive

Polyglandular Autoimmune Syndrome: Type 1†Primary Carnitine Deficiency

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 Deficiency†Pycnodysostosis

Pyruvate Dehydrogenase Deficiency: Autosomal Recessive

Pyruvate Dehydrogenase Deficiency: 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 Deficiency†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 Deficiency

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 Deficiency

Walker-Warburg Syndrome†Werner Syndrome

Wilson Disease

Wolcott-Rallison Syndrome

Zellweger Spectrum Disorders: PEX1 Related




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