Prenatal Diagnostic Testing

Genzyme Genetics performs the following:

• Acetylcholinesterase (AChE) testing
• Alphafetoprotein (AFAFP amniotic fluid) testing
• Cytogenetics for:
  - Amniotic fluid
  - Chorionic villi sampling (CVS)
  - Percutaneous umbilical blood sampling (PUBS)
  - Fetal tissue
• Molecular testing
  - Bloom syndrome mutation analysis
  - Canavan disease mutation analysis
  - Cystic fibrosis expanded mutation analysis – CFplus
  - 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
  - Maple syrup urine disease (MSUD) mutation analysis
  - Mucolipidosis type IV 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
  - Zygosity testing
• InSight^® (Interphase FISH for rapid detection of X, Y, 13, 18, 21)

Cytogenetics

Our cytogenetics program provides detection of chromosome abnormalities for both prenatal and postnatal samples. Our team of board certified geneticists and genetic counselors have 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 culture success rates. In addition, we attain greater than 99% culture success rates for amniocentesis, CVS and blood samples.

InSight^®

InSight^® provides rapid preliminary detection of the most common chromosome aneuploidies in prenatal specimens. It is most useful in cases of extreme urgency (e.g., a pregnancy in which ultrasound abnormalities have been observed) or in cases of high-risk late gestational age. It is standard of care that patients having InSight also have chromosome analysis performed to confirm InSight findings and/or to identify other abnormalities undetectable by InSight.

Prenatal Diagnostic Testing Education Materials

For your convenience, we have posted a PDF of our prenatal diagnosis of chromosome abnormalities physician brochure on this page.

Prenatal Diagnostic Testing Reporting

Every report is reviewed and signed by a board certified clinical cytogeneticist or chemist. Abnormal prenatal and STAT results are immediately telephoned to a referring physician by a board certified clinical cytogeneticist or a genetic counselor. All final reports are telephoned and/or faxed. Test results are also available online for registered users at: www.genzymegoldconnect.com

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		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