Rubinstein-Taybi Syndrome via the EP300 Gene

Summary and Pricing

Test Method

Sequencing and CNV Detection via NextGen Sequencing using PG-Select Capture Probes
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
4141 EP300 81479 81479,81479 $640 Order Options

Pricing Comments

This test is also offered via our exome backbone with CNV detection (click here). The exome-based test may be higher priced, but permits reflex to the entire exome or to any other set of clinically relevant genes.

A 25% additional charge will be applied to STAT orders. View STAT turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.

Turnaround Time

18 days on average

EMAIL CONTACTS

Genetic Counselors

Geneticist

Clinical Features and Genetics

Clinical Features

Rubinstein-Taybi syndrome (also called broad Thumbs-Hallux Syndrome) is characterized by short stature, distinctive facial features, broad thumbs and big toes, moderate to severe intellectual disability and postnatal growth retardation. Other features include cryptorchidism, microcephaly, speech delay, delayed bone age, gastroesophageal reflux, coloboma, renal abnormalities and congenital heart defects. The prevalence is ~ 1/125,000 live births (Stevens 2014; Milani et al. 2015).

Genetics

Rubinstein-Taybi syndrome is inherited in an autosomal dominant manner and is caused by pathogenic variants in the CREBBP and EP300 genes. Less than 20 unique EP300 pathogenic variants for Rubinstein-Taybi syndrome have been reported. They include: nonsense (2), splicing (1), small deletion and duplication (8), and large deletion involving single or multiple exons (5) (Tsai et all. 2011; Roelfsema et al. 2005; Solomon et al. 2015 and Negri et al. 2015).CREBBP and EP 300 proteins, coded by CREBBP and EP300, respectively, are transcriptional adaptors and histone acetyltransferases that acetylate nucleosomes (Ogryzko et al. 1996).

Testing Strategy

This test provides full coverage of all coding exons of the EP300 gene, plus ~10 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads or Sanger sequencing.

Clinical Sensitivity - Sequencing with CNV PG-Select

Pathogenic variants in EP300 are identified in ~3%-8% of patients with Rubinstein–Taybi syndrome (Stevens 2014).

Indications for Test

Candidates for this test are patients with symptoms consistent with Rubinstein-Taybi syndrome and family members of patients who have known EP300 pathogenic variants (Stevens 2014).

Gene

Official Gene Symbol OMIM ID
EP300 602700
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Rubinstein-Taybi Syndrome 2 AD 613684

Citations

  • Milani D, Manzoni FMP, Pezzani L, Ajmone P, Gervasini C, Menni F, Esposito S. 2015. Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management. Ital J Pediatr 41: PubMed ID: 4308897
  • Negri G, Milani D, Colapietro P, Forzano F, Della Monica M, Rusconi D, Consonni L, Caffi LG, Finelli P, Scarano G, Magnani C, Selicorni A, Spena S, Larizza L, Gervasini C. 2015. Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene. Clin Genet 87: 148-154. PubMed ID: 24476420
  • Ogryzko VV, Schiltz RL, Russanova V, Howard BH, Nakatani Y. 1996. The transcriptional coactivators p300 and CBP are histone acetyltransferases. Cell 87: 953-959. PubMed ID: 8945521
  • Roelfsema JH, White SJ, Ariyürek Y, Bartholdi D, Niedrist D, Papadia F, Bacino CA, Dunnen JT den, Ommen G-JB van, Breuning MH, Hennekam RC, Peters DJM. 2005. Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in Both the CBP and EP300 Genes Cause Disease. Am J Hum Genet 76: 572-580. PubMed ID: 15706485
  • Solomon BD, Bodian DL, Khromykh A, Mora GG, Lanpher BC, Iyer RK, Baveja R, Vockley JG, Niederhuber JE. 2015. Expanding the phenotypic spectrum in EP300-related Rubinstein-Taybi syndrome. Am. J. Med. Genet. 167: 1111-1116. PubMed ID: 25712426
  • Stevens CA. 2014. Rubinstein-Taybi Syndrome. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJ, Bird TD, Dolan CR, Fong C-T, Smith RJ, and Stephens K, editors. GeneReviews(®), Seattle (WA): University of Washington, Seattle. PubMed ID: 20301699
  • Tsai AC-H, Dossett CJ, Walton CS, Cramer AE, Eng PA, Nowakowska BA, Pursley AN, Stankiewicz P, Wiszniewska J, Cheung SW. 2011. Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein-Taybi syndrome detected by aCGH. Eur. J. Hum. Genet. 19: 43-49. PubMed ID: 20717166

Ordering/Specimens

Ordering Options

We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

myPrevent - Online Ordering

  • The test can be added to your online orders in the Summary and Pricing section.
  • Once the test has been added log in to myPrevent to fill out an online requisition form.

Requisition Form

  • A completed requisition form must accompany all specimens.
  • Billing information along with specimen and shipping instructions are within the requisition form.
  • All testing must be ordered by a qualified healthcare provider.

For Requisition Forms, visit our Forms page


Specimen Types

Specimen Requirements and Shipping Details

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ORDER OPTIONS

View Ordering Instructions

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2) Select Additional Test Options

STAT and Prenatal Test Options are not available with Patient Plus.

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