Rubinstein-Taybi Syndrome FISH Analysis


Related Gene(s): CREBBP, DNASE1, TRAP1

Rubinstein-Taybi syndrome (16p13.3) FISH (fluorescence in situ hybridization) is offered for diagnosis of individuals with clinical features of Rubinstein-Taybi syndrome, including distinctive facial features, broad thumbs and great toes, short stature, and moderate to severe intellectual disability. The craniofacial features are downslanted palpebral fissures, low hanging columella, high palate, grimacing smile, and talon cusps. The detection rate of deletion/duplication by 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 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