Cri du Chat Syndrome FISH Analysis


Related Gene(s): CTNND2, SEMAF, TERT

Cri du chat syndrome (chromosomal location 5p15.3) FISH (fluorescence in situ hybridization) is offered for diagnosis of individuals with clinical features of cri du chat syndrome, including intellectual disability, high-pitched monotonous cry, or growth retardation. The detection rate of FISH analysis for this disorder is approximately 99%.


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

  • Samples should be received on day of collection. Keep specimens at room temperature

Turnaround Time

  • Prenatal: 5-7 days
  • Postnatal: 7-10 days


Resources

Prenatal Test Requisition with Natera NIPT
Prenatal Test Requisition with Sequenom NIPT
General Test Requisition