Infertility

Genzyme Genetics performs the following:

• Preimplantation genetic diagnosis (PGD)
• Diagnostic testing to identify causes of infertility
  - CFTR Intron 8 poly(T)
  - Cystic fibrosis mutation analysis
  - Cytogenetics – Blood
  - Cytogenetics – Products of conception (POC)
  - Factor II (Prothrombin) G20210A mutation analysis
  - Factor V Leiden mutation analysis
  - Fragile X syndrome mutation analysis
  - MTHFR (C677T) mutation analysis
  - Y chromosome microdeletion analysis

Preimplantation Genetic Diagnosis (PGD)

To help you select the embryos most likely to result in healthy pregnancies and liveborns, our PGD program screens embryos for the most common aneuploidies and/or known familial translocations. The goal of our PGD program is to help physicians and their patients achieve higher pregnancy rates and fewer pregnancy losses. Our program, which is directed by board certified cytogeneticists, has CAP accreditation, CMS certification under CLIA and California and New York state licensures.

Diagnostic Testing to Identify Causes of Infertility

Our infertility testing program is comprised of high quality cytogenetics and molecular diagnostics. Our expertise in these areas helps us identify causes of infertility when indicated by recurrent pregnancy loss, premature or primary ovarian failure, azoospermia, oligospermia or congenital bilateral absence of the vas deferens (CBAVD).

Infertility Education Materials

For your convenience, we have posted a PDF of our PGD physician brochure on this page.

Infertility Testing Reporting

Every report is reviewed and signed by a board certified clinical cytogeneticist or geneticist. 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