Thyroid Cancer

Forms and Documents

Test Details

ALK, APC, CDC73 (HRPT2), DICER1, EPCAM, MEN1, MLH1, MSH2, MSH6, NF1, NF2, PHOX2B, PMS2, PRKAR1A, PTCH1, PTEN, RB1, RET, SMARCA4, SMARCB1, STK11, SUFU, TP53, TSC1, TSC2, VHL, WT1
  • A personal or family history of cancer diagnosed at a particularly young age (such as rhabdomyosarcoma diagnosed under 3 years of age or thyroid cancer diagnosed in childhood)
  • Multiple cancers in one person, either of the same origin (such as multiple brain tumors or bilateral renal tumors) or of different origins (such as medulloblastoma and basal cell carcinoma or adrenocortical carcinoma and sarcoma) with at least one diagnosis in childhood
  • A personal or family history of certain cancers and/or benign tumors which are highly associated with a hereditary pediatric tumor syndrome (such as certain pediatric renal tumors or central nervous system tumors)
  • Multiple relatives diagnosed with the same or related cancers on the same side of the family and spanning multiple generations
  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering

J318
3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swab | Fibroblasts (separate charge for cell culture may apply) | Oral Rinse

Billing

81201x1, 81203x1, 81405x1, 81406x1, 81407x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Auber F et al. Management of Wilms tumors in Drash and Frasier syndromes. Pediatric Blood & Cancer. 2009 Jan 52(1):55?9. (PMID: 18816692)
  2. American Cancer Society. Special Section: Cancer in Children & Adolescents. Cancer Facts & Figures. 2014
  3. American Thyroid Association. http://www.thyroid.org
  4. Bree AF et al. Consensus statement from the first international colloquium on basal cell nevus syndrome (BCNS). Am J Med Genet A. 2011 Sep;155A(9):2091?7. doi: 10.1002/ajmg.a.34128. (PMID: 21834049)
  5. Canto MI et al. International Cancer of the Pancreas Screening (CAPS) Consortium summit on the management of patients with increased risk for familial pancreatic cancer. Gut. 2013 Mar;62(3):339?47. (PMID 23135763)
  6. Correa R et al. Carney complex: an update. Eur J Endocrinol. 2015 Oct;173(4):M85?97. (PMID: 26130139)
  7. Dome JS, Huff V. Wilms Tumor Overview. 2003 Dec 19 [Updated 2013 Sep 19]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993?2016.
  8. Doros L, Schultz KA, Stewart DR, et al. DICER1?Related Disorders. 2014 Apr 24. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993?2016.
  9. Durno CA, Holter S, Sherman PM, Gallinger S. The gastrointestinal phenotype of germline biallelic mismatch repair gene mutations. Am J Gastroenterol. 2010 Nov;105(11):2449?56. (PMID 20531397)
  10. Evans DG et al. Genetic testing and screening g of individuals at risk of NF2. Clin Genet. 2012 Nov;82(5):416?24. (PMID: 22098617)
  11. Evans DG, Farndon PA. Nevoid Basal Cell Carcinoma Syndrome. 2002 Jun 20 [Updated 2015 Oct 1]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993?2016.
  12. Frantzen C, Klasson TD, Links TP, et al. Von Hippel?Lindau Syndrome. 2000 May 17 [Updated 2015 Aug 6]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993?2016.
  13. Friedman JM. Neurofibromatosis 1. 1998 Oct 2 [Updated 2014 Sep 4]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993?2016.
  14. Greengard EG, Park JR. ALK?Related Neuroblastic Tumor Susceptibility. 2010 Jan 5 [Updated 2015 Apr 9]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993?2016.
  15. Jackson MA, Rich TA, Hu MI, et al. CDC73?Related Disorders. 2008 Dec 31 [Updated 2015 Jan 15]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993?2016.
  16. Krueger DA et al. Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol. 2013 Oct;49(4):255?65. (PMID: 24053983)
  17. Lohmann DR, Gallie BL. Retinoblastoma. 2000 Jul 18 [Updated 2015 Nov 19]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993?2016.
  18. NCCN Guidelines. Genetic/Familial High?Risk Assessment: Breast and Ovarian. (URL: http://www.nccn.org/professionals/physician_gls/f_guidelines.asp) [May 2013 accessed].
  19. NCCN Guidelines. Genetic/Familial High?Risk Assessment: Colorectal. (URL: http://www.nccn.org/professionals/physician_gls/f_guidelines.asp) [May 2014 accessed].
  20. NCCN Guidelines. Thyroid Carcinoma. (URL: http://www.nccn.org/professionals/physician_gls/pdf/thyroid.pdf) [February 2016 accessed].
  21. Parsons DW et al. Diagnostic Yield of Clinical Tumor and Germline Whole?Exome Sequencing for Children With Solid Tumors. Jama Oncology. 2016 Jan 28. (PMID: 26822237)
  22. Plon SE and Nathanson K. Inherited Susceptibility for Pediatric Cancer. Cancer J. 2005 Jul?Aug. (PMID:16197716)
  23. Richards CS et al. ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007. Genet Med. 2008 Apr;10(4):294?300.
  24. Scott RH et al. Surveillance for Wilms tumour in at?risk children: pragmatic recommendations for best practice. Archives Of Disease In Childhood. 2006 Dec 91(12):995?9. PMID: (16857697)
  25. Stratakis C et al. Clinical and Molecular Features of the Carney Complex: Diagnostic Criteria and Recommendations for Patient Evaluation J Clin Endocrinol Metab. 2001 Sep;86(9):4041?6. (PMID: 11549623)
  26. The Endocrine Society. https://www.endocrine.org/
  27. Weese?Mayer DE et al. An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management. Am J Respir Crit Care Med. 2010 Mar 15;181(6):626?44. (PMID: 20208042)
  28. Weese?Mayer DE, Marazita ML, Rand CM, et al. Congenital Central Hypoventilation Syndrome. 2004 Jan 28 [Updated 2014 Jan 30]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 199
  29. Wimmer K and Kratz CP. Constitutional mismatch repair?deficiency syndrome. Haematologica. 2010 May; 95(5): 699–701. (PMID 20442441)
  30. Zhang J et al. Germline Mutations in Predisposition Genes in Pediatric Cancer. The New England Journal Of Medicine. 2015 Nov 18. (PMID 26580448)

Forms and Documents

CREATE A CUSTOM PANEL

Test Details

  • Identify the genetic basis of cancer for individuals who have features and/or a family history consistent with one of the hereditary cancer syndromes described above.
  • Determine appropriate clinical management recommendations based on a molecular diagnosis.
  • Identify family members at-risk to develop features associated with a specific hereditary cancer syndrome.
  • Deletion/Duplication Analysis
  • Next-Gen Sequencing
  • MLPA

Ordering

B749
21 days
2-5 mL Blood - Lavender Top Tube
Buccal Swab | Fibroblasts (separate charge for cell culture may apply) | Oral Rinse

Billing

Varies by Gene
Yes
Yes
* For price inquiries please email zebras@genedx.com