Inherited Diseases

Humans have over 30,000 individual genes that come in pairs. An inherited disease is passed from parents to child and is caused by a mutation in a gene. Tay-Sachs disease and cystic fibrosis are examples of inherited diseases that can be tested for.

Testing options for Inherited Diseases (when specific risks have been identified and testing is available)

• Amniocentesis/Amniotic Fluid Testing
• Ashkenazi Jewish Carrier Testing
• Carrier Testing
• Chorionic Villi Sampling (CVS)
• Cystic Fibrosis Carrier Testing
• Fragile X Carrier Testing
• Spinal Muscular Atrophy Carrier Testing

View Test Comparison Chart (PDF)
Compare testing periods, detection rates and risks for screening and diagnostic testing options.

MyTestingOptions.com will continue to add more testing options as they become available through Genzyme. Email me when more testing options are added to this website.