The CREBBP and EP300 genes are the only two genes known to cause RSTS. Mutations in the CREBBP gene are identified in 30-50% of individuals with RSTS. Mutations in the EP300 gene (22q13) are identified in 3% of individuals with RSTS. Microdeletions account for approximately 10% of individuals with RSTS. RSTS is inherited in an autosomal dominant pattern; however, most of the mutations are de novo.
Please note that this test is for the EP300 gene only.
- Confirmation of a clinical diagnosis of Rubinstein-Taybi syndrome.
- Carrier testing in adults with a family history of Rubinstein-Taybi syndrome.
Analytical Sensitivity: ~99%
Submit only 1 of the following specimen types
Preferred specimen type: Whole Blood
Type: Whole Blood
Specimen Requirements:In EDTA (purple top) tube:
Infants (<2 years): 2-3 ml
Children (>2 years): 3-5 ml
Older Children & Adults: 5-10 ml
Specimen Collection and Shipping: Refrigerate until time of shipment. Ship sample within 5 days of collection at room temperature with overnight delivery.
Specimen Requirements:OrageneTM Saliva Collection kit (available through EGL) used according to manufacturer instructions.
Specimen Collection and Shipping: Store sample at room temperature. Ship sample within 5 days of collection at room temperature with overnight delivery.
- Sequence and deletion/duplication analysis for the CREBBP gene are available.
- Custom diagnostic mutation analysis (KM) is available to family members if mutations are identified by targeted mutation testing or sequencing analysis.
- Prenatal testing is available only for known familial mutations to individuals who are confirmed carriers of mutations. Please contact the laboratory genetic counselor to discuss appropriate testing prior to collecting a prenatal specimen.