Prader-Willi Syndrome FISH Analysis

 

Related Gene(s): MAGEL2, MKRN3, OCA2, snoRNAs, SNRPN

Prader-Willi syndrome (chromosome location 15q11.2q13) FISH (fluorescence in situ hybridization) is offered for diagnosis of individuals with clinical features of Prader-Willi syndrome, including intellectual disability, hypotonia, hypogonadism, food obsession, and behavior problems. The detection rate of FISH analysis for this disorder is approximately 70%.


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
  • 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