1p36 Deletion FISH Analysis


Related Gene(s): CDK11A, CDK11B, GABRD, KCNAB2, PRDM16

1p36 FISH (fluorescence in situ hybridization) is offered for diagnosis of individuals with clinical features of 1p36 deletion syndrome, including craniofacial abnormalities, developmental delay, hypotonia, learning disability, hearing loss, heart problems, and seizures. The detection rate of 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 (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