Pediatric Genetics
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)
Contact Us
Division of Pediatric Genetics
Golisano Children's Hospital
601 Elmwood Avenue
Box 777
Rochester, NY 14642
Phone: (585) 275-5857
Fax: (585) 273-1018
More Information
