Genetic TestsRubinstein-Taybi Syndrome (del 16p13.3) FISH

• Test Name: Rubinstein-Taybi Syndrome (del 16p13.3) FISH
• Test Code: 3638

• Rubinstein-Taybi Syndrome (OMIM #: 180849) || Gene: CREBBP (OMIM #: 600140)

• RUBINSTEIN SYNDROME
• “BROAD THUMBS AND GREAT TOES, CHARACTERISTIC FACIES, AND MENTAL RETARDATION”
• BROAD THUMB-HALLUX SYNDROME
• CREB-BINDING PROTEIN; CREBBP

• Methodology: FISH
• Performed: Everyday
• Reported: 1 week

• Specimen Collection: Peripheral blood
• Container: Tube with Heparin
• Specimen Volume/Amount: > 3 ml
• Storage/Transport Condition: Refrigerated
• Unacceptable Specimens/Conditions: Serum; Frozen specimens; Hemolyzed specimens; Icterus; Lipemia

• Dysmorphology