GeneDx :: Tests :: Rubinstein-Taybi syndrome

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Rubinstein-Taybi syndrome

CREBBP (CREB-binding protein)

Rubenstein-Taybi Syndrome (RSTS) is an autosomal dominant congenital disorder characterized by broad, often angulated thumbs, broad great toes, typical facial features, micrognathia, hirsuitism and low anterior hairline. Patients exhibit growth retardation and psychomotor developmental delay. Ocular problems, various congenital heart defects, feeding problems, hemangiomas, keloid formation, retained fetal finger pads, increased risk for tumor development and abnormalities of the patella are seen in varying percentage of affected individuals. 40-60% of patients with Rubenstein-Taybi Syndrome were found to have a heterozygous mutation in the CREBBP gene, while about 10% of patients have a gene deletion, many of which may be mosaic in nature. Of the mutations identified by sequencing, the majority are expected to result in nonsense, splicing and frame-shift mutations. The missense mutations in the gene primarily affect conserved domains in the resultant protein.

Using genomic DNA obtained from blood (1-5 mL in EDTA), GeneDx offers mutation analysis of the CREBBP gene in two tiers. Tier 1 includes CopyDx analysis for the 5’, middle, and 3’ portions of the gene, and sequencing of exons 1-5, 8, 18, and 20-31, and is expected to identify the vast majority of deletions and a significant majority of CREBBP mutations. Tier 2 analysis encompasses the remaining exons of the CREBBP gene. Both tiers of the CREBBP analysis is expected to identify >95% of deletions and small intragenic mutations, if they exist. Mutation-specific testing in family members and prenatal diagnosis in at-risk pregnancies is available once a mutation in an affected individual has been defined.

Information Sheet, including prices and CPT codes
Consent Document
Genetic Test Sample Submission Form (Test Requisition Form) including Payment Options