Bannayan-Riley-Ruvalcaba Syndrome

BRRS is a congenital disorder characterized by macrocephaly, intestinal polyposis, lipomas, and enlargement and spotty pigmentation of the glans penis. Other common features may include: high birth weight, mild to severe mental retardation with delayed motor and speech development, proximal muscle weakness, joint hyperextensibility, macrodactyly, pectus excavatum, and scoliosis. Hamartomatous GI polyps are observed in ~45% of affected individuals. The cancer risks in patients with BRRS who harbor PTEN gene mutations are thought to be similar to that of individuals with CS

Tests Available

Forms and Documents

Test Details

PTEN
  • An adult with features of PTEN hamartoma tumor syndrome (PHTS), such as characteristic skin lesions (trichilemmomas, acral keratoses, papillomas, lipomas, etc.), macrocephaly, gastrointestinal polyps (especially hamartomas or ganglioneuromas), Lhermitte-Duclos disease, or associated cancers (breast, endometrial, non-medullary thyroid, renal, melanoma, colon), among other features
  • A child with early-onset features of PHTS, such as macrocephaly, autism, developmental delay, lipomas, penile freckling, or vascular anomalies, among other features
  • An unaffected individual with a family history suggestive of PHTS (see above) when an affected individual is unavailable for his or her own genetic testing
  • Capillary Sequencing
  • Deletion/Duplication Analysis

Ordering

195
3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swab | Fibroblasts (separate charge for cell culture may apply) | Oral Rinse

Billing

81321x1, 81323x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Eng, C. Hum Mutat. 22: 183-98, 2003
  2. Marsh, D.J. et al. Hum Mol Genet. 7: 507-15, 1998
  3. Zhou, X.P. et al. Am J Hum Genet. 73: 404-11, 2003
  4. Pezzolesi, M. et al. Hum Mol Genet. 16: 1058-71, 2007
  5. Zhou, X.P. et al. Hum Mol Genet. 9: 765-8, 2000
  6. Zhou, X.P. et al. Lancet. 358: 210-1, 2001
  7. Barker, K. et al. J Med Genet. 38: 480-1, 2001
  8. Smith, J.M. et al., J Med Genet. 39: 937-40, 2002

Forms and Documents

Test Details

AKT3, BRWD3, CCND2, CHD8, CUL4B, DNMT3A, EZH2, GLI3, GPC3, HEPACAM, HERC1, MED12, MTOR, NFIA, NFIX, NSD1, OFD1, PHF6, PIK3CA, PIK3R2, PPP2R5D, PTCH1, PTEN, RAB39B, RNF135, SETD2, SNX14, TBC1D7, UPF3B
  • Molecular confirmation of a clinical diagnosis
  • Identification of at-risk family members
  • Assist with treatment/ management decisions
  • Recurrence risk assessment
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

699
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81321x1, 81323x1, 81401x1, 81405x1, 81406x1
No
Yes
* For price inquiries please email zebras@genedx.com