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 Related Web sites page to view a list of Web sites 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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