Rubinstein-Taybi syndrome (RSTS) is an autosomal dominant multiple congenital anomaly syndrome characterized by postnatal growth retardation, microcephaly, mental retardation, broad thumbs and halluces and facial dysmorphism. Facial features are striking including heavy, arched eyebrows, long eyelashes, downslanting palpebral fissures, beaked nose, broad nasal bridge, narrow, high-arched palate and characteristic grimacing. RSTS1 (MIM 180849) and RSTS2 (MIM 613684) are caused by mutations in the CREBBP and EP300 genes, which code for CREB-binding protein and histone acetyltransferase p300, respectively. About 50 to 70 % of RSTS patients have mutations in CREBBP and about 3 % in EP300. Patients with RSTS2 typically have a milder phenotype than the patients with RSTS1. Also, some patients with RSTS1 can have other findings such as cardiac abnormalities, increased risk for tumor formation and additional skeletal findings.

Copy number variation (CNV) analysis of the Rubinstein-Taybi syndrome genes using high density targeted (HDT) array is also offered as a panel. Additionally, CTGT offers a comprehensive test (both NGS panel and HDT array panel) for these genes. Panel genes are also offered as individual sequencing and deletion/duplication tests, unless otherwise indicated.
The Rubinstein-Taybi syndrome NGS panel consists of two genes: CREBBP and EP300.