Smith-Magenis Syndrome FISH Analysis


Related Gene(s): FL11, MYOI5A, RAI1, TOP3A

Smith-Magenis syndrome (chromosome location 17p11.2) FISH (fluorescence in situ hybridization) is offered for diagnosis of individuals with clinical features of Smith-Magenis syndrome, including intellectual disability, cognitive impairment problems (including sleep disturbances), and self-mutilating behaviors. 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

  • Ship 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