Carrier Screening

Genzyme Genetics performs the following:

• Ashkenazi Jewish carrier screening
• Bloom syndrome mutation analysis
• Canavan disease mutation analysis
• CFplus^TM, cystic fibrosis mutation analysis
• Familial dysautonomia mutation analysis
• Fanconi anemia group C mutation analysis
• Fragile X syndrome mutation analysis
• Gaucher disease mutation analysis
• Glycogen storage disease type 1a (GSD1a) mutation analysis
• Mucolipidosis type IV mutation analysis
• Maple syrup urine disease (MSUD) mutation analysis
• Niemann-Pick disease type A mutation analysis
• Tay-Sachs disease enzyme (hexosaminidase) activity
• Tay-Sachs disease mutation analysis

Ashkenazi Jewish Carrier Screening

The American College of Obstetricians and Gynecologists (ACOG) considers it standard of care for doctors to offer carrier testing for cystic fibrosis, Tay-Sachs disease, Canavan disease and familial dysautonomia to individuals of Ashkenazi Jewish descent. At Genzyme Genetics, our Ashkenazi Jewish carrier screening menu consists of these four tests and seven others, for a total of 11 tests. (Tay-Sachs disease, Canavan disease, cystic fibrosis, familial dysautonomia, Bloom syndrome, Fanconi anemia group C, Gaucher disease, glycogen storage disease type 1a, mucolipidosis type IV, maple syrup urine disease and Neimann-Pick disease type A). This extensive menu supports our continuing efforts to offer a broad choice of genetic tests for physicians and patients for diseases that occur at a higher frequency in the Ashkenazi Jewish population.

CFplus^TM, Cystic Fibrosis Mutation Analysis

CFplus offers an expanded mutation panel, which provides increased detection of cystic fibrosis carriers in the diverse U.S. population. Our expanded panel provides higher detection rates in African American (81% compared to 69% for the standard 23-mutation panel) and Hispanic (72% compared to 57% for the standard 23-mutation panel) populations.

Fragile X Syndrome Carrier Screening

Fragile X syndrome is the leading cause of inherited mental retardation, affecting 1 in 4,000 males and 1 in 8,000 females. In fact, 1 in 260 unaffected women is a carrier for a fragile X syndrome mutation. Genzyme Genetics fragile X carrier testing provides a detection rate greater than 95%, and includes both PCR and Southern blot analysis to provide the most accurate results.

Carrier Screening Education Materials

For your convenience, we have posted PDFs of our cystic fibrosis and Ashkenazi Jewish carrier screening physician brochures on this page.

Carrier Screening Reporting

The molecular genetics programs are directed by board certified molecular geneticists. All results are reported by telephone or fax as soon as they become available. The written report, which includes a full interpretation and appropriate references, is also mailed. Test results are also available online for registered users at: www.genzymegoldconnect.com

		Search by Test Name or Condition:
		Search by Test Name:
		Select a test .... Acetylcholinesterase (AChE) Testing AFP3® - Triple Marker Test AFP4® - Quadruple Marker Test Amniotic Fluid Alphafetoprotein (AFAFP) Testing Angelman Syndrome Protocol Angiotensin Converting Enzyme (ACE) Analysis Ashkenazi Jewish Carrier Testing Bloom Syndrome Mutation Analysis Canavan Disease Mutation Analysis CFTR Intron 8 Poly (T) Analysis Chitotriosidase Assay Cri-Du-Chat Microdeletion Analysis Cystic Fibrosis Expanded Mutation Analysis - CFplus™ Cystic Fibrosis Gene Sequencing Cytogenetics – Amniotic Fluid Chormosome Analysis Cytogenetics – Blood Chromosome Analysis Cytogenetics – Chorionic Villi Sampling Chromosome Analysis Cytogenetics – Chromosome Breakage Analysis (Blood) Cytogenetics – Products of Conception (POC) Chromosome Analysis DiGeorge/Velocardiofacial (22q11) Syndrome Microdeletion Analysis Fabry Disease Enzyme Analysis Fabry Disease Mutation Analysis by Sequencing Factor II (Prothrombin) G20210A Mutation Analysis Factor V Leiden Mutation Analysis Familial Dysautonomia Mutation Analysis Fanconi Anemia Group C Mutation Analysis FirstScreen™ - First Trimester Screening Fragile X Syndrome Mutation Analysis Gaucher Disease Enzyme Analysis Gaucher Disease Mutation Analysis Glycogen Storage Disease Type 1a Mutation Analysis InSight (Interphase FISH for Rapid Detection of X, Y, 13, 18, 21) IntegratedScreen™ - Integrated Screening Kallmann Syndrome Microdeletion Analysis Maple Syrup Urine Disease (MSUD) Mutation Analysis Maternal Cell Contamination Analysis Maternal Serum Alphafetoprotein (MSAFP) Screening Microdeletion Analyses Miller-Dieker Syndrome Microdeletion Analysis MTHFR (C677T) Mutation Analysis Mucolipidosis Type IV Mutation Analysis Niemann-Pick Disease Type A Mutation Analysis Pompe Disease Test Pompe Disease Mutation Analysis (GAA) by Sequencing Prader-Willi Protocol Preimplantation Genetic Diagnosis (PGD) - Aneuploidy Preimplantation Genetic Diagnosis (PGD) - Translocations Rh c/E Mutation Analysis Rh D Mutation Analysis SequentialScreen™ SerumIntegratedScreen™ - Integrated Screening Sickle Cell Anemia Mutation Analysis Smith-Magenis Syndrome Microdeletion Analysis Spinal Muscular Atrophy (SMA) Steroid Sulfatase Deficiency (X-linked Ichthyosis) Subtelomere Analysis Tay-Sachs Disease Mutation Analysis Tay-Sachs Enzyme Analysis (Hexosaminidase A) TRAP (Tartrate Resistant Acid Phosphatase) Williams Syndrome Microdeletion Analysis Wolf-Hirschhorn Syndrome Microdeletion Analysis Y Chromosome Microdeletion Analysis Zygosity Testing