Hereditary Hemorrhagic Telangiectasia Panel

Forms and Documents

Test Details

ACVRL1, ENG, GDF2, RASA1, SMAD4
  • Confirmation of a clinical diagnosis in symptomatic individuals
  • Identification of individuals at-risk for developing the disease
  • Recurrence risk assessment
  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

697
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81405x2, 81406x2
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Online Mendelian Inheritance in Man. www.ncbi.nlm.nih.gov/sites/entrez?db=OMIM.
  2. Kjeldsen et al. (1999) J. Intern. Med. 245 (1):31-9 (PMID: 10095814)
  3. Marchuk et al. (1998) Am. J. Med. Genet. 76 (3):269-73 (PMID: 9508248)
  4. McDonald J, Pyeritz RE. Hereditary Hemorrhagic Telangiectasia. 2000 Jun 26 [Updated 2014 Jul 24]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: htt
  5. Shovlin et al. (2010) Blood Reviews 24 (6):203-19 (PMID: 20870325)
  6. Lesca et al. (2007) Genet. Med. 9 (1):14-22 (PMID: 17224686)
  7. Harrison et al. (2003) Journal Of Medical Genetics 40 (12):865-71 (PMID: 14684682)
  8. Wooderchak-Donahue et al. (2013) American Journal of Human Genetics 93 (3):530-7 (PMID: 23972370)
  9. McDonald et al. (2015) Front Genet 6:1 (PMID: 25674101)
  10. Gallione et al. (2006) Journal Of Medical Genetics 43 (10):793-7 (PMID: 16613914)
  11. Gallione et al. (2004) Lancet 363 (9412):852-9 (PMID: 15031030)
  12. Bayrak-Toydemir P, Stevenson D. RASA1-Related Disorders. 2011 Feb 22 [Updated 2013 Dec 19]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015. Available from: http://ww
  13. Hernandez et al. (2015) Hum Genome Var 2 :15040 (PMID: 27081547)
  14. Lesca et al. (2006) Human Mutation 27 (6):598 (PMID: 16705692)
  15. Letteboer et al. (2005) Human Genetics 116 (1-2):8-16 (PMID: 1557393)
  16. Brusgaard et al. (2004) Clin. Genet. 66 (6):556-61 (PMID: 15521985)
  17. Abdalla et al. (2005) Human Mutation 25 (3):320-1 (PMID: 15712271)
  18. Schulte et al. (2005) Human Mutation 25 (6):595 (PMID: 15880681)
  19. Prigoda et al. (2006) Journal Of Medical Genetics 43 (9):722-8 (PMID: 16690726)
  20. Bossler et al. (2006) Human Mutation 27 (7):667-75 (PMID: 16752392)
  21. McDonald et al. (2011) Clinical Genetics 79 (4):335-44 (PMID: 21158752)
  22. Richards-Yutz et al. (2010) Hum. Genet. 128 (1):61-77 (PMID: 20414677)
  23. Revencu et al. (2008) Human Mutation 29 (7):959-65 (PMID: 18446851)