Diagnosis

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

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Maternity and Newborn

Genetic and Congenital Conditions

Evaluating a Child for Birth Defects

Detailed information on evaluating a child for birth defects

Genetic and Congenital Conditions

Medical Genetics: Chromosome Studies

When a chromosome is abnormal, it can cause health problems in the body. Tests called studies can look at chromosomes to see what type of problem a person has.

Genetic and Congenital Conditions

Medical Genetics: DNA Studies for Single Gene Defects

To look for single gene defects, healthcare providers look at the DNA to see if it has any errors in it. Errors are known as mutations.

Genetic and Congenital Conditions

Clinical Genetic Testing

This screening test looks for inherited diseases or genes that put you at risk for a certain disease.

Health Centers

Testing for Birth Defects

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Evaluating a Child for Birth Defects

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Testing for Birth Defects

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Related Articles

Evaluating a Child for Birth Defects

Medical Genetics: Chromosome Studies

Medical Genetics: DNA Studies for Single Gene Defects

Clinical Genetic Testing