Schwannomatosis

Forms and Documents

Test Details

NF2, SMARCB1
  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering

963
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81405x1, 81406x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Friedman JM. Neurofibromatosis 1. 1998 Oct 2 [Updated 2014 Sep 4]. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1
  2. Evans DG. Neurofibromatosis 2. 1998 Oct 14 [Updated 2011 Aug 18]. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013. Available from: http://www.ncbi.nlm.nih.gov/books/NBK12
  3. Stevenson D, Viskochil D, Mao R, et al. Legius Syndrome. 2010 Oct 14 [Updated 2015 Jan 15]. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013. Available from: http://www.nc
  4. Trovo-Marqui, A, Tajara E. (2006) Clin. Genet. 70: 1-13 (PMID: 16813595)
  5. Curto M, McClatchey A. (2008) Brit. J. Cancer 98: 256-262 (PMID: 17971776)
  6. Brems et al., (2012) Hum. Mutat. 33: 1538-1546 (PMID: 22753041)
  7. Online Mendelian Inheritance in Man, OMIM®. Johns Hopkins University, Baltimore, MD. MIM Number: 609291: 09/24/13: World Wide Web URL: http://omim.org/.
  8. Spencer et al., (2011) Am J Med Genet Part A 155:1352–1359 (PMID: 21548021)
  9. Evans D. (2009) Genet Med 11: 599–610 (PMID: 19652604)
  10. Ahronowitz et al., (2007) Hum. Mutat. 28: 1-12 (PMID: 16983642)
  11. Wimmer et al., (2006) Genes Chromosomes Cancer 45:265–76 (PMID: 16283621)
  12. Valero et al. (2011) J Mol Diagn 13:113–22 (PMID: 21354044)
  13. Sabbagh et al., (2013) Hum. Mutat. 34:1510-1518 (PMID: 23913538)
  14. Baser et al., (2006) Hum Mutat. 27: 297-306 (PMID: 16521120)
  15. Stumpf et al. (1988) Arch Neurol 45:575-578 (PMID: 3128965)
  16. Messiaen et al., (2009) JAMA 302:2111–8 (PMID: 19920235)
  17. Pasmant et al., (2010) Hum Mutat 31:E1506–18 (PMID: 20513137)
  18. Online Mendelian Inheritance in Man, OMIM®. Johns Hopkins University, Baltimore, MD. MIM Number: 611413: 02/20/13: World Wide Web URL: http://omim.org/.
  19. Muram-Zborovski et al, (2010) J Chil Neurol 25(10): 1203-1209 (PMID: 20179001)
  20. Hadfield et al., (2008) J Med Genet 45:332-339 (PMID: 18285426)
  21. Plotkin et al. (2013) Am J Med Genet A 161A(3): 405-16 (PMID: 23401320)
  22. Van den Munckhof et al., (2012) Neurogenetics 13(1): 1-7 (PMID: 22038540)
  23. Bacci et al., (2010) Neurogenetics 11(1) 73-80 (PMID: 19582488)
  24. MacCollin et al., (2005) Neurology 64: 1838-1845 (PMID: 15955931)
  25. Ullrich N (2015) J of Child Neurology pii: 0883073815604220 (PMID: 26459515)
  26. MacCollin et al., (2003) Neurology 60: 1968-74 (PMID: 12821741)
  27. Slattery et al., (2015) Otolaryngol Clin North Am 48(3): 443-60 (PMID: 26043141)
  28. Smith et al., (2015) Hum Mut 37: 250-256 (PMID: 26615784)
  29. Colley et al., (1996) Clin Genet 49: 59-64 (PMID: 8740913)

Forms and Documents

Test Details

NF1, NF2, SMARCB1, SPRED1
  • Establish or confirm a clinical diagnosis
  • Identification of at-risk family members
  • Development of an appropriate evaluation and management Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies
  • Deletion/Duplication Analysis
  • MLPA
  • Next-Gen Sequencing

Ordering

961
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81405x2, 81406x1, 81408x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Friedman JM. Neurofibromatosis 1. 1998 Oct 2 [Updated 2014 Sep 4]. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1
  2. Evans DG. Neurofibromatosis 2. 1998 Oct 14 [Updated 2011 Aug 18]. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013. Available from: http://www.ncbi.nlm.nih.gov/books/NBK12
  3. Stevenson D, Viskochil D, Mao R, et al. Legius Syndrome. 2010 Oct 14 [Updated 2015 Jan 15]. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013. Available from: http://www.nc
  4. Trovo-Marqui, A, Tajara E. (2006) Clin. Genet. 70: 1-13 (PMID: 16813595)
  5. Curto M, McClatchey A. (2008) Brit. J. Cancer 98: 256-262 (PMID: 17971776)
  6. Brems et al., (2012) Hum. Mutat. 33: 1538-1546 (PMID: 22753041)
  7. Online Mendelian Inheritance in Man, OMIM®. Johns Hopkins University, Baltimore, MD. MIM Number: 609291: 09/24/13: World Wide Web URL: http://omim.org/.
  8. Spencer et al., (2011) Am J Med Genet Part A 155:1352–1359 (PMID: 21548021)
  9. Evans D. (2009) Genet Med 11: 599–610 (PMID: 19652604)
  10. Ahronowitz et al., (2007) Hum. Mutat. 28: 1-12 (PMID: 16983642)
  11. Wimmer et al., (2006) Genes Chromosomes Cancer 45:265–76 (PMID: 16283621)
  12. Valero et al. (2011) J Mol Diagn 13:113–22 (PMID: 21354044)
  13. Sabbagh et al., (2013) Hum. Mutat. 34:1510-1518 (PMID: 23913538)
  14. Baser et al., (2006) Hum Mutat. 27: 297-306 (PMID: 16521120)
  15. Stumpf et al. (1988) Arch Neurol 45:575-578 (PMID: 3128965)
  16. Messiaen et al., (2009) JAMA 302:2111–8 (PMID: 19920235)
  17. Pasmant et al., (2010) Hum Mutat 31:E1506–18 (PMID: 20513137)
  18. Online Mendelian Inheritance in Man, OMIM®. Johns Hopkins University, Baltimore, MD. MIM Number: 611413: 02/20/13: World Wide Web URL: http://omim.org/.
  19. Muram-Zborovski et al, (2010) J Chil Neurol 25(10): 1203-1209 (PMID: 20179001)
  20. Hadfield et al., (2008) J Med Genet 45:332-339 (PMID: 18285426)
  21. Plotkin et al. (2013) Am J Med Genet A 161A(3): 405-16 (PMID: 23401320)
  22. Van den Munckhof et al., (2012) Neurogenetics 13(1): 1-7 (PMID: 22038540)
  23. Bacci et al., (2010) Neurogenetics 11(1) 73-80 (PMID: 19582488)
  24. MacCollin et al., (2005) Neurology 64: 1838-1845 (PMID: 15955931)
  25. Ullrich N (2015) J of Child Neurology pii: 0883073815604220 (PMID: 26459515)
  26. MacCollin et al., (2003) Neurology 60: 1968-74 (PMID: 12821741)
  27. Slattery et al., (2015) Otolaryngol Clin North Am 48(3): 443-60 (PMID: 26043141)
  28. Smith et al., (2015) Hum Mut 37: 250-256 (PMID: 26615784)
  29. Colley et al., (1996) Clin Genet 49: 59-64 (PMID: 8740913)