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