Health Library

Health Library

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.

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

Testing for Birth Defects - WellSpan Health

Online Medical Reviewer: Heather Clark, MS, CGC
Online Medical Reviewer: Louise Akin, RN, BSN
© 2014 WellSpan Health. All Rights Reserved. This information is not intended as a substitute for professional medical care. Always follow your healthcare professional's instructions.

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