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Diagnosis

Testing for Birth Defects

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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.

Chromosome Studies: Karyotype, Extended Banding, Fluorescence In Situ Hybridization (FISH), and Chromosomal Microarray Analysis

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

Biochemical Genetic Testing

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