Download - Taag Genetics

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.
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.
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.
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.
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.
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
Aspartylglycosaminuria
17-Alpha Hydroxylase Deficiency
Ataxia-Telangiectasia†
17-Beta Hydroxysteroid
Dehydrogenase 3 Deficiency
Ataxia with Vitamin E Deficiency
Autosomal Recessive Polycystic
Kidney Disease
21-Hydroxylase-Deficient Classical
Congenital Adrenal Hyperplasia†
Bardet-Biedl Syndrome:
BBS1 Related
21-Hydroxylase-Deficient
Nonclassical Congenital Adrenal
Hyperplasia†
Bardet-Biedl Syndrome:
BBS2 Related
3-Beta-Hydroxysteroid
Dehydrogenase Deficiency
3-Methylcrotonyl-CoA
Carboxylase Deficiency:
MCCA Related
3-Methylcrotonyl-CoA
Carboxylase Deficiency:
MCCB Related
Bardet-Biedl Syndrome:
BBS10 Related
Bardet-Biedl Syndrome:
BBS11 Related
Bardet-Biedl Syndrome:
BBS12 Related
Congenital Disorder of
Glycosylation: Type 1B: MPI Related
Congenital Disorder of
Glycosylation: Type 1C:
ALG6 Related
Congenital Lipoid Adrenal
Hyperplasia
Congenital Neutropenia:
Recessive
Glutaric Acidemia: Type I
Creatine Transporter Defect
Bartter Syndrome: Type 4A
Cystinosis
Cystic Fibrosis [ACOG/ACMG] *†
D-Bifunctional Protein Deficiency
Beta-Hexosaminidase
Pseudodeficiency†
Diabetes: Recessive Permanent
Neonatal
5-Alpha Reductase Deficiency
Beta-Ketothiolase Deficiency
6-Pyruvoyl-Tetrahydropterin
Synthase Deficiency
Biotinidase Deficiency
Dihydropyrimidine Dehydrogenase
Deficiency
Du Pan Syndrome
Abetalipoproteinemia†
Bloom Syndrome [ACMG] *†
Canavan Disease [ACOG/ACMG] *†
Achromatopsia: CNGB3 Related
Carnitine Palmitoyltransferase IA
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
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
Gaucher Disease [ACMG] *†
Gitelman Syndrome
Corticosterone Methyloxidase
Deficiency†
Crigler-Najjar Syndrome
Carpenter Syndrome
Galactokinase Deficiency
Globoid Cell Leukodystrophy
Beta Thalassemia [ACOG] *†
Adenosine Deaminase Deficiency
Fragile X Syndrome*†
Fumarase Deficiency
Glucose-6-Phosphate
Dehydrogenase Deficiency†
Bare Lymphocyte Syndrome:
Type II
Carnitine Palmitoyltransferase II
Deficiency†
Fanconi Anemia: Type J
Corneal Dystrophy and Perceptive
Deafness
3-Phosphoglycerate
Dehydrogenase Deficiency
Acyl-CoA Oxidase I Deficiency
Fanconi Anemia: Type G
Copper Transport Disorders
3-Methylglutaconic Aciduria:
Type 3†
Acrodermatitis Enteropathica
Fanconi Anemia: Type C [ACMG]*†
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
Cholesteryl Ester Storage Disease
Factor IX Deficiency
Choreoacanthocytosis†
Factor VIII Deficiency
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
Choroideremia
Familial Chloride Diarrhea
Hemoglobinopathy: Hb C [ACOG]*†
Chronic Granulomatous Disease:
X-Linked
Familial Dysautonomia [ACOG/
ACMG] *†
Hemoglobinopathy: Hb D
[ACOG] *†
Citrullinemia: Type I
Familial Hyperinsulinism: Type 1:
ABCC8 Related†
Hemoglobinopathy: Hb E
[ACOG] *†
Familial Hyperinsulinism: Type 2:
KCNJ11 Related
Hemoglobinopathy: Hb O
[ACOG] *†
Classical Galactosemia†
Cohen Syndrome
Combined Pituitary Hormone
Deficiency: PROP1 Related
Congenital Disorder of
Glycosylation: Type 1A:
PMM2 Related
Familial Mediterranean Fever†
Hereditary Fructose Intolerance
Familial Mediterranean Fever:
Mild Form†
Herlitz Junctional Epidermolysis
Bullosa: LAMB3 Related
Fanconi Anemia: Type A
Hermansky-Pudlak Syndrome:
Type 1
Maple Syrup Urine Disease:
Type 1A
Nonsyndromic Hearing Loss and
Deafness: DFNB3 Related
Short-Chain Acyl-CoA
Dehydrogenase Deficiency†
Hermansky-Pudlak Syndrome:
Type 3
Maple Syrup Urine Disease:
Type 1B†
Nonsyndromic Hearing Loss and
Deafness: GJB2 Related†
Sickle-Cell Anemia [ACOG] *†
HMG-CoA Lyase Deficiency
Oculocutaneous Albinism: Type 1
Smith-Lemli-Opitz Syndrome
Holocarboxylase Synthetase
Deficiency
Maple Syrup Urine Disease:
Type 3†
Oculocutaneous Albinism: Type 4
Meckel Syndrome: Type 1
Omenn Syndrome
Homocystinuria Caused by CBS
Deficiency
Medium-Chain Acyl-CoA
Dehydrogenase Deficiency
Spinal Muscular Atrophy: SMN1
Related [ACMG] *†
Stargardt Disease
Hunter Syndrome
Metachromatic Leukodystrophy†
Ornithine Transcarbamylase
Deficiency
Hurler Syndrome†
Ornithine Translocase Deficiency
Methylmalonic Acidemia:
MMAA Related
Pendred Syndrome
Sulfate Transporter-Related
Osteochondrodysplasia
Persistent Mullerian Duct
Syndrome: Type I
Tyrosine Hydroxylase Deficiency
Hypohidrotic Ectodermal
Dysplasia: X-Linked
Hypophosphatasia
Inclusion Body Myopathy: Type 2†
Isovaleric Acidemia
Joubert Syndrome†
Methylmalonic Acidemia:
MMAB Related
Methylmalonic Acidemia:
MUT Related
Methylmalonic Aciduria and
Homocystinuria: Type cblC
Sjogren-Larsson Syndrome
Stuve-Wiedemann Syndrome
Tay-Sachs Disease [ACOG/ACMG] *†
Persistent Mullerian Duct
Syndrome: Type II
Tyrosinemia: Type I†
Phenylalanine Hydroxylase
Deficiency†
Usher Syndrome: Type 1C
Usher Syndrome: Type 1B
POLG Related Disorders: Autosomal
Recessive
Usher Syndrome: Type 1D
Mucolipidosis: Type IV [ACMG] *†
Polyglandular Autoimmune
Syndrome: Type 1†
Usher Syndrome: Type 2A
Multiple Pterygium Syndrome
Primary Carnitine Deficiency
Multiple Sulfatase Deficiency
Primary Hyperoxaluria: Type 1
Very Long-Chain Acyl-CoA
Dehydrogenase Deficiency
Leber Congenital Amaurosis:
GUCY2D Related
Muscle-Eye-Brain Disease
Primary Hyperoxaluria: Type 2
Walker-Warburg Syndrome†
Myotubular Myopathy: X-Linked
Primary Hyperoxaluria: Type 3†
Werner Syndrome
Leber Congenital Amaurosis:
LCA5 Related
Navajo Neurohepatopathy
Progressive Familial Intrahepatic
Cholestasis: Type 2
Wilson Disease
Leber Congenital Amaurosis:
RDH12 Related
Nephrotic Syndrome: Type 1
Propionic Acidemia: PCCA Related
Nephrotic Syndrome: Type 2
Propionic Acidemia: PCCB Related
Zellweger Spectrum Disorders:
PEX1 Related
Leydig Cell Hypoplasia
Neuronal Ceroid-Lipofuscinosis:
CLN3 Related
Pycnodysostosis
Limb-Girdle Muscular Dystrophy:
Type 2A
Neuronal Ceroid-Lipofuscinosis:
CLN5 Related
Pyruvate Dehydrogenase
Deficiency: Autosomal Recessive
Limb-Girdle Muscular Dystrophy:
Type 2B
Neuronal Ceroid-Lipofuscinosis:
CLN6 Related
Pyruvate Dehydrogenase
Deficiency: X-Linked
Limb-Girdle Muscular Dystrophy:
Type 2C
Neuronal Ceroid-Lipofuscinosis:
CLN8 Related
Retinal Dystrophies: RLBP1 Related
Limb-Girdle Muscular Dystrophy:
Type 2D
Neuronal Ceroid-Lipofuscinosis:
MFSD8 Related
Limb-Girdle Muscular Dystrophy:
Type 2E
Neuronal Ceroid-Lipofuscinosis:
PPT1 Related
Limb-Girdle Muscular Dystrophy:
Type 2F
Neuronal Ceroid-Lipofuscinosis:
TPP1 Related
Limb-Girdle Muscular Dystrophy:
Type 2I
Niemann-Pick Disease: Type A
[ACMG] *†
Juvenile Retinoschisis: X-Linked
Lamellar Ichthyosis: Type 1
Laryngoonychocutaneous
Syndrome
Leber Congenital Amaurosis:
CEP290 Related
Leigh Syndrome: French- Canadian
MTHFR Deficiency: Severe†
Mucolipidosis: Type II/III
Nemaline Myopathy: NEB Related†
Lipoprotein Lipase Deficiency
Niemann-Pick Disease: Type B
Long-Chain 3-Hydroxyacyl-CoA
Dehydrogenase Deficiency
Niemann-Pick Disease: Type C1
Lysinuric Protein Intolerance
Niemann-Pick Disease: Type C2
Nijmegen Breakage Syndrome
Pseudocholinesterase Deficiency†
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
Usher Syndrome: Type 1F †
Usher Syndrome: Type 3†
Wolcott-Rallison Syndrome
Zellweger Spectrum Disorders:
PEX2 Related
Zellweger Spectrum Disorders:
PEX6 Related
Zellweger Spectrum Disorders:
PEX10 Related
Chile
China
México
Río refugio 9641
Pudahuel, Santiago
+56 2 2935 3299
[email protected]
102#, 1009 Yishan Road Xuhui
Districtl, Shangai
+86 021 64956276
[email protected]
Av. Coyoacán #1622
Local 207, Colonia del Valle
Delegación Benito Juarez D.F.
+52 55 52003250
[email protected]
www.taag-genetics.com