Medical Genetics

Testing for Birth Defects

There are many types of tests that may be performed to determine whether a child has a genetic birth defect. Listed in the directory below are some, for which we have provided a brief overview.

If you cannot find the information in which you are interested, please visit the Medical Genetics Online Resources page in this Web site for an Internet/World Wide Web address that may contain additional information on that topic.

Chromosome Studies: Karyotype, Extended Banding, Fluorescent In Situ Hybridization (FISH)

Studies for Single Gene Defects: DNA (Direct and Indirect)

Biochemical Genetic Testing

 

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