Genetic Testing

Genzyme Genetics performs the following:

Cytogenetics More >

• Amniocentesis / Chorionic villi sampling (CVS)
• Peripheral blood
• Products of conception (POC)
• Tissue

Molecular Genetics More >

• Ashkenazi Jewish carrier screening
• Bloom syndrome mutation analysis
• Canavan disease mutation analysis
• CFTR Intron 8 poly(T) analysis
• CFplus^TM cystic fibrosis mutation analysis
• Familial dysautonomia mutation analysis
• Factor II (Prothrombin) G20210A mutation analysis
• Factor V Leiden 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
• Hemophilia A (Factor VIII Deficiency) inversion
• Huntington disease mutation direct analysis
• MTHFR (C677T) mutation analysis
• Mucolipidosis type IV mutation analysis
• Maple syrup urine disease (MSUD) mutation analysis
• Niemann-Pick disease type A mutation analysis
• Rh c/E mutation analysis
• Rh D mutation analysis
• Sickle cell anemia mutation analysis
• Tay-Sachs disease mutation analysis

Specific Microdeletions Syndromes

• Angelman
• Cri-du-chat
• DiGeorge/Velocardiofacial (22q11)
• Idiopathic mental retardation (subtelomere analysis, postnatal only)
• Kallmann
• Miller-Dieker
• Prader-Willi
• Smith-Magenis
• Steroid Sulfatase Deficiency (X-linked icthyosis)
• Williams
• Wolf-Hirschhorn

Other

• Subtelomere analysis
• Zygosity testing

Cytogenetics

Our cytogenetics program provides detection of chromosome abnormalities for both prenatal and postnatal samples. Our team of board certified geneticists and genetic counselors has in-depth knowledge of cytogenetics and extensive experience with difficult and unusual cases. Our staff is highly skilled in solid tissue cytogenetics and achieves outstanding products of conception (POC) culture success rates. In addition, we attain greater than 99% culture success rates for amniocentesis, CVS and blood samples.

Fluorescence In Situ Hybridization (FISH)

FISH is a technology that complements routine chromosome analysis by utilizing chromosome-specific DNA probes. Our extensive FISH capabilities include a library with more than 200 probes.

FISH technology enables the identification of chromosome abnormalities that are difficult to define by conventional banding methods. If an unusual chromosome abnormality is discovered during chromosome analysis, FISH may be helpful for further characterizing that abnormality.

Appropriate FISH testing may be specifically ordered by the physician. We also have a reflex protocol for certain circumstances. Our FISH Probe Library, which consists of proprietary and commercial probes, is most useful for following known abnormalities in treated cancer patients and for providing information in specimens with a low mitotic index.

Molecular Genetics

Molecular analysis can be used for carrier or prenatal testing, or to make or confirm a diagnosis in a presymptomatic or affected individual. Laboratory coordinators (board certified genetic counselors) are available to assist physicians in determining what testing is appropriate for particular families or situations. Our high quality molecular genetics program consists of a broad menu of testing and a “center of excellence” laboratory facility based in Westborough, MA.

Genetic Testing Educational Materials

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

Cytogenetics and FISH Reporting

• Every cytogenetics and FISH report is reviewed and signed by a board certified clinical cytogeneticist. Abnormal prenatal and STAT results are immediately telephoned to a referring physician by a board certified clinical cytogeneticist or genetic counselor.
• All final reports are telephoned and/or faxed. The written report, which includes a full interpretation, references, original karyotype or, as appropriate, FISH photographs, is then mailed.
• Written reports and karyotypes for abnormal prenatal cytogenetics analyses can be sent via overnight delivery. Test results are also available online for registered users at www.genzymegold.com.

Molecular Genetics Reporting

The molecular genetics programs are directed by board certified molecular geneticists. All results are reported by telephone or fax as soon as they are 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