Colorectal Cancer

Forms and Documents

Test Details

APC, ATM, AXIN2, BMPR1A, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NTHL1, PMS2, POLD1, POLE, PTEN, SCG5/GREM1, SMAD4, STK11, TP53
  • Effective 1/29/2018, MSH2 Inversion Analysis will be included on all Oncology panels with the MSH2 gene.
  • Colorectal or endometrial cancer diagnosed under 50 years of age
  • Multiple colon polyps (especially ≥ 20 adenomas) at any age
  • Tumor testing which indicates an increased risk for a hereditary cancer syndrome known as Lynch syndrome (e.g. microsatellite instability and/or lack of immunohistochemistry staining for a mismatch repair protein)
  • Multiple cancers in one person either of the same origin (such as two separate colorectal cancers) or of different origin (such as colon and endometrial cancer in the same individual)
  • Multiple relatives diagnosed with the same or related cancers (such as colon, endometrial, ovarian, urinary tract, gastric) on the same side of the family and spanning multiple generations
  • Exon Array CGH
  • Next-Gen Sequencing
  • MLPA

Ordering

B274
2 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swab | Fibroblasts (separate charge for cell culture may apply) | Oral Rinse

Billing

81435x1, 81436x1, 81404x1, 81405x2, 81406x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. 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)
  2. 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)
  3. NCCN Guidelines. Gastric Cancer. (URL: http://www.nccn.org/professionals/physician_gls/f_guidelines.asp) [July 2014 accessed].
  4. NCCN BR/OV Guidelines. Genetic/Familial High-Risk Assessment: Breast and Ovarian. Version 3.2013 (URL: http://www.nccn.org/clinical.asp) [May 2013 accessed].
  5. NCCN Guidelines. Genetic/Familial High?Risk Assessment: Colorectal. (URL: http://www.nccn.org/professionals/physician_gls/f_guidelines.asp) [May 2014 accessed].
  6. NCCN CRC Guidelines. Colorectal Cancer Screening. Version 2.2013 (URL: http://www.nccn.org/clinical.asp) [July 2013 accessed].
  7. Rasool S et al. A comparative overview of general risk factors associated with the incidence of colorectal cancer. Tumour Biol. 2013 July 6 [Epub ahead of print]. (PMID 23832537)
  8. Surveillance, Epidemiology, and End Results (SEER) Program of the National Cancer Institute. SEER Cancer Statistics Review, 1975-2009: Lifetime Risk Tables (URL: http://surveillance.cancer.gov/devcan) [July2013 accessed].
  9. Wimmer K and Kratz CP. Constitutional mismatch repair-deficiency syndrome. Haematologica. 2010 May; 95(5): 699–701. (PMID 20442441)

Forms and Documents

Test Details

APC, ATM, AXIN2, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, FANCC, FH, FLCN, HOXB13, MET, MITF, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, NTHL1, PALB2, PMS2, POLD1, POLE, POT1, PTEN, RAD51C, RAD51D, RECQL, SCG5/GREM1, SDHB, SDHC, SDHD, SMAD4, STK11, TP53, TSC1, TSC2, VHL
  • Effective 1/29/2018, MSH2 Inversion Analysis will be included on all Oncology panels with the MSH2 gene.
  • Cancer at a young age, such as breast, colon, or renal cancer
  • Multiple cancers in one person, either of the same origin (such as two separate colon cancers) or of different origins (such as breast cancer and ovarian cancer)
  • Diagnosis of certain rare cancers, such as ovarian or male breast cancer
  • Multiple relatives diagnosed with the same or related cancers on the same side of the family and spanning multiple generations
  • Exon Array CGH
  • Next-Gen Sequencing
  • MLPA

Ordering

B275
2 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swab | Fibroblasts (separate charge for cell culture may apply) | Oral Rinse

Billing

81162x1, 81201x1, 81203x1, 81292x1, 81294x1, 81295x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. 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)
  2. National Cancer Institute at the National Institutes of Health. What you need to know about: cancer; risk factors. (URL: http://www.cancer.gov/cancertopics) [July 2013 accessed].
  3. NCCN Guidelines. Genetic/Familial High-Risk Assessment: Breast and Ovarian. Version 2.2013 (URL: http://www.nccn.org/clinical.asp) [May 2013 accessed].
  4. NCCN Guidelines. Colorectal Cancer Screening. Version 1.2013 (URL: http://www.nccn.org/clinical.asp) [May 2013 accessed].
  5. NCCN Guidelines. Gastric Cancer. (URL: http://www.nccn.org/professionals/physician_gls/f_guidelines.asp) [July 2014 accessed].
  6. NCCN Guidelines. Genetic/Familial High?Risk Assessment: Colorectal. (URL: http://www.nccn.org/professionals/physician_gls/f_guidelines.asp) [May 2014 accessed].
  7. Saslow D et al. American Cancer Society Guidelines for Breast Screening with MRI as an Adjunct to Mammography. CA Cancer J Clin. 2007 May-Jun; 57(3):185. (PMID 17392385)
  8. Surveillance, Epidemiology, and End Results (SEER) Program of the National Cancer Institute. SEER Cancer Statistics Review, 1975-2009: Lifetime Risk Tables (URL: http://surveillance.cancer.gov/devcan) [July 2013 accessed].

Forms and Documents

Test Details

APC, EPCAM, MLH1, MSH2, MSH6, MUTYH, PMS2
  • Effective 1/29/2018, MSH2 Inversion Analysis will be included on all Oncology panels with the MSH2 gene.
  • Colorectal or endometrial cancer diagnosed under 50 years of age
  • Multiple colon polyps (especially ≥ 20 adenomas) at any age
  • Tumor testing which indicates an increased risk for a hereditary cancer syndrome known as Lynch syndrome (e.g. microsatellite instability and/or lack of immunohistochemistry staining for a mismatch repair protein)
  • Multiple cancers in one person either of the same origin (such as two separate colorectal cancers) or of different origin (such as colon and endometrial cancer in the same individual)
  • Multiple relatives diagnosed with the same or related cancers (such as colon, endometrial, ovarian, urinary tract, gastric) on the same side of the family and spanning multiple generations
  • Exon Array CGH
  • Next-Gen Sequencing
  • MLPA

Ordering

B522
2 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swab | Fibroblasts (separate charge for cell culture may apply) | Oral Rinse

Billing

81292x1, 81294x1, 81295x1, 81297x1, 81317x1, 81298x1, 81300x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Baglietto L et al. Risks of Lynch syndrome cancers for MSH6 mutation carriers. J Natl Cancer Inst. 2010 Feb;102(3):193-201. (PMID: 20028993)
  2. Balaguer F et al. Identification of MYH mutation carriers in colorectal cancer: a multicenter, case-control, population-based study. Clin Gastroenterol Hepatol. 2007;5:379–87. (PMID:17368238)
  3. Barnetson RA et al. Germline mutation prevalence in the base excision repair gene, MYH, in patients with endometrial cancer. Clin Genet. 2007 Dec;72(6):551-5. (PMID: 17956577)
  4. Bonadona V et al. Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome. JAMA. 2011 Jun;305(22):2304-10. (PMID: 21642682)
  5. Bonpari KS et al. Hyperplastic polyps and sessile serrated adenomas as a phenotypic expression of MYH-associated polyposis. Gastroenterology. 2008 Dec;135(6):2014-8. (PMID: 19013464)
  6. Cleary SP et al. Germline MutY human homologue mutations and colorectal cancer: a multisite case-control study. Gastroenterology. 2009;136:1251–60. (PMID:19245865)
  7. Croitoru ME et al. Association Between Biallelic and Monoallelic Germline MYH Gene Mutations and Colorectal Cancer Risk. JNCI. 2004;96:1631–4. (PMID:15523092)
  8. Durno CA et al. The gastrointestinal phenotype of germline biallelic mismatch repair gene mutations. Am J Gastroenterol. 2010 Nov;105(11):2449-56. (PMID:20531397)
  9. Farrington SM et al. Germline susceptibility to colorectal cancer due to base-excision repair gene defects. Am J Hum Genet. 2005;77:112–9. (PMID:15931596)
  10. Jasperson KW et al. Hereditary and Familial Colon Cancer. Gastroenterology. 2010 Jun;138(6):2044-58 (PMID: 20420945)
  11. Jasperson KW. Genetic testing by cancer site: colon (polyposis syndromes). Cancer J. 2012 Jul-Aug;18(4):328-33. (PMID: 22846733)
  12. Jenkins MA et al. Risk of colorectal cancer in monoallelic and biallelic carriers of MYH mutations: a population-based case-family study. Cancer Epidemiol Biomarkers Prev. 2006;15:312-14. (PMID: 16492921)
  13. Li-Chang HH et al. Colorectal cancer in a 9-year-old due to combined EPCAM and MSH2 germline mutations: case report of a unique genotype and immunophenotype. J Clin Pathol. 2013 Jul;66(7):631-3. (PMID: 23454724)
  14. Lubbe SJ et al. Clinical implications of the colorectal cancer risk associated with MUTYH mutations. J Clin Oncol. 2009;27:3975-80. (PMID: 19620482)
  15. Out AA et al. MUTYH gene variants and breast cancer in a Dutch case-control study. Breast Cancer Res Treat. 2012 Jul;134(1):219-27. ( PMID:22297469)
  16. Quehenberger F et al. Risk of colorectal and endometrial cancer for carriers of mutations of the hMLH1 and hMSH2 gene: correction for ascertainment. J Med Genet.2005 Jun;42(6):491-6. (PMID: 21642682)
  17. Rennert G et al. MutYH mutation carriers have increased breast cancer risk. Cancer. 2012 Apr;118(8):1989-93. (PMID: 21952991)
  18. Santonocito C et al. Common genetic variants of MUTYH are not associated with cutaneous malignant melanoma: application of molecular screening by means of high-resolution melting technique in a pilot case-control study. Int J Biol Markers. 2011 Jan-Mar;26
  19. Senter L et al. The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. Gastroenterology. 2008 Aug;135(2):419-28. (PMID: 18602922)
  20. Sieber OM et al. Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH. N Engl J Med. 2003 Feb 27;348(9):791-9. (PMID:12606733)
  21. Vasen HF et al. Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis. Gastroenterology. 1996 Apr;110(4):1020-7. (PMID: 8612988)
  22. Vogt S. et al. Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. Gastroenterology. 2009;137:1976-85. (PMID: 19732775)
  23. Weissman SM et al. Genetic counseling considerations in the evaluation of families for Lynch syndrome--a review.J Genet Couns. 2011 Feb;20(1):5-19. (PMID: 20931355)
  24. Wimmer K et al. Constitutional mismatch repair-deficiency syndrome. Haematologica. 2010 May; 95(5): 699–701. (PMID:20442441)
  25. Win AK et al. Cancer risks for monoallelic MUTYH mutation carriers with a family history of colorectal cancer. Int J Cancer. 2011 Nov 1;129(9):2256-62. (PMID: 21171015)
  26. Win AK et al. Colorectal and other cancer risks for carriers and noncarriers from families with a DNA mismatch repair gene mutation: a prospective cohort study. J Clin Oncol. 2012 Mar;30(9):958-64. (PMID: 22331944)

Forms and Documents

Test Details

APC, ATM, AXIN2, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDKN2A, CHEK2, EPCAM, FH, FLCN, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, NTHL1, PALB2, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, SCG5/GREM1, SDHB, SDHC, SDHD, SMAD4, STK11, TP53, TSC1, TSC2, VHL
  • Effective 1/29/2018, MSH2 Inversion Analysis will be included on all Oncology panels with the MSH2 gene.
  • Cancer at a young age, such as breast or colon cancer
  • Multiple cancers in one person, either of the same origin (such as two separate colon cancers) or of different origins (such as breast cancer and ovarian cancer)
  • Diagnosis of certain rare cancers, such as ovarian or male breast cancer
  • Multiple relatives diagnosed with the same or related cancers on the same side of the family and spanning multiple generations
  • Exon Array CGH
  • Next-Gen Sequencing
  • MLPA

Ordering

B751
2 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81162x1, 81201x1, 81203x1, 81292x1, 81294x1, 81295x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. 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)
  2. National Cancer Institute at the National Institutes of Health. What you need to know about: cancer; risk factors. (URL: http://www.cancer.gov/cancertopics) [July 2013 accessed].
  3. NCCN Guidelines.Gastric Cancer. (URL: http://www.nccn.org/professionals/physician_gls/f_guidelines.asp) [July 2014 accessed].
  4. NCCN Guidelines. Genetic/Familial High-Risk Assessment: Breast and Ovarian. (URL: http://www.nccn.org/professionals/physician_gls/f_guidelines.asp) [May 2013 accessed].
  5. NCCN Guidelines. Genetic/Familial High-Risk Assessment: Colorectal. (URL: http://www.nccn.org/professionals/physician_gls/f_guidelines.asp) [May 2014 accessed].
  6. Saslow D et al. American Cancer Society Guidelines for Breast Screening with MRI as an Adjunct to Mammography.CA Cancer J Clin. 2007 May-Jun; 57(3):185. (PMID 17392385)
  7. Surveillance, Epidemiology, and End Results (SEER) Program of the National Cancer Institute. SEER Cancer Statistics Review, 1975-2009: Lifetime Risk Tables (URL: http://surveillance.cancer.gov/devcan) [July 2013 accessed].

Forms and Documents

Test Details

MSH2
  • Effective 1/29/2018, MSH2 Inversion Analysis will be included on all Oncology panels with the MSH2 gene.
  • 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.
  • PCR & Electrophoresis

Ordering

J006
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

N/A
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Baglietto L et al. Risks of Lynch syndrome cancers for MSH6 mutation carriers. J Natl Cancer Inst. 2010 Feb;102(3):193-201. (PMID: 20028993)
  2. Bonadona V et al. Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome. JAMA. 2011 Jun;305(22):2304-10. (PMID: 21642682)
  3. Canto M 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)
  4. Cunningham JM et al. The frequency of hereditary defective mismatch repair in a prospective series of unselected colorectal carcinomas. Am J Hum Genet. 2001 Oct;69(4):780-90. (PMID: 11524701)
  5. Durno CA et al. The gastrointestinal phenotype of germline biallelic mismatch repair gene mutations. Am J Gastroenterol. 2010 Nov;105(11):2449-56. (PMID: 20531397)
  6. Li-Chang HH et al. Colorectal cancer in a 9-year-old due to combined EPCAM and MSH2 germline mutations: case report of a unique genotype and immunophenotype. J Clin Pathol. 2013 Jul;66(7):631-3. (PMID: 23454724)
  7. NCCN Guidelines. Genetic/Familial High-Risk Assessment: Colorectal. (URL: http://www.nccn.org/professionals/physician_gls/f_guidelines.asp) [May 2014 accessed].
  8. Quehenberger F et al. Risk of colorectal and endometrial cancer for carriers of mutations of the hMLH1 and hMSH2 gene: correction for ascertainment. J Med Genet.2005 Jun;42(6):491-6. (PMID: 21642682)
  9. Rhees J et al. Inversion of exons 1-7 of the MSH2 gene is a frequent cause of unexplained Lynch syndrome in one local population. Fam Cancer. 2014 Jun;13(2):219-25. (PMID: 24114314)
  10. Senter L et al. The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. Gastroenterology. 2008 Aug;135(2):419-28. (PMID: 18602922)
  11. Vasen HF et al. Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis. Gastroenterology. 1996 Apr;110(4):1020-7. (PMID: 8612988)
  12. Weissman SM et al. Genetic counseling considerations in the evaluation of families for Lynch syndrome--a review.J Genet Couns. 2011 Feb;20(1):5-19. (PMID: 20931355)
  13. Wimmer K et al. Constitutional mismatch repair-deficiency syndrome. Haematologica. 2010 May; 95(5): 699–701. (PMID: 20442441)

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
  • Effective 1/29/2018, MSH2 Inversion Analysis will be included on all Oncology panels with the MSH2 gene.
  • 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
  • Exon Array CGH
  • 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

  • Effective 1/29/2018, MSH2 Inversion Analysis will be included on all Oncology panels with the MSH2 gene.
  • 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.
  • Exon Array CGH
  • 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