Tests and Procedures

Tests can often resolve uncertainty about genetic risks and confirm a diagnosis. For most patients, testing involves taking only a blood sample. A few tests involve taking hair, skin, or other tissue samples.

Tests may include:

• Biochemical genetic testing
• DNA testing
• Chromosome analysis
• Chromosomal microarray analysis
• Subtelomere/FISH analysis
• Diagnostic radiology
• Skin biopsy
• Confirmation of abnormal newborn screen
• Parental and carrier genetic testing
• Muscle biopsy

More Information

• A Brief Primer on Genetic Testing (National Human Genome Research Institute)