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 Natera NIPT
Prenatal Test Requisition with Sequenom NIPT
General Test Requisition
Chromosomal Microarray Information Sheet