CHARGE Syndrome FISH Analysis
Related Gene(s): CDH7
CHARGE syndrome (8q12.1q12.2) FISH (fluorescence in situ hybridization) is offered for diagnosis of individuals with clinical features of CHARGE syndrome, including coloboma, heart defects, atresia choanae, growth retardation, genital abnormalities, and ear abnormalities. The detection rate of deletion/duplication by FISH analysis for this disorder is approximately 95%.
Specimen Requirements
Prenatal
- Amniotic fluid: Minimum total specimen size 15 mL
- Chorionic villi: Minimum total specimen size 4 mg
Postnatal
- Whole blood: Minimum 5-10 mL in sodium heparin tube (green top)
Ordering Information
Shipping
- Ship at room temperature
Turnaround Time
- Prenatal: 5-7 days
- Postnatal: 7-10 days
Related Tests
Resources
Prenatal Test Requisition with Sequenom NIPT
General Test Requisition
Chromosomal Microarray and Microdeletion FISH Panel Information Sheet