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
  • Ship to:
    Sema4
    62 Southfield Ave, Stamford, CT 06902
    Phone: 800-298-6470 / Fax: 646-859-6870

 

Turnaround Time

  • Prenatal: 6-10 days
  • Postnatal: 6-10 days

 


Resources

Prenatal Test Requisition, including carrier screening and Noninvasive Prenatal Select
General Test Requisition
Chromosomal Microarray Information Sheet