Oncology Genetics

Breast/Gynecologic Cancer

BRCA1/2 Sequencing and Del/Dup analysis

Forms and Documents

Test Details

BRCA1, BRCA2
  • Verification of a genetic basis for cancer in families indicative/suggestive of hereditary breast and ovarian cancer.
  • Determination of appropriate screening and treatment.
  • Identification of at-risk family members.
  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering

B362
8-10 days
2-5 mL Blood - Lavender Top Tube
Buccal Swab | Fibroblasts (separate charge for cell culture may apply) | Oral Rinse

Billing

81162x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Antoniou A et al. Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet. 2003 May;72(5):1117-30. (PMID 12677558)
  2. Biron-Shental T et al. High incidence of BRCA1-2 germline mutations, previous breast cancer and familial cancer history in Jewish patients with uterine serous papillary carcinoma. Eur J Surg Oncol. 2006 Dec;32(10):1097-100. (PMID 16650962)
  3. Chen S and Parmigiani G. Meta-anlaysis of BRCA1 and BRCA2 penetrance. J Clin Oncol. 2007 Apr;25(11):1329-33. (PMID 17416853)
  4. Easton DF. How many more breast cancer predisposition genes are there? Breast Can Res. 1999 Aug;1(1):14-17. (PMID 11250676)
  5. Ford D et al. Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium. Am J Hum Genet. 1998 Mar;62(3):676-89. (PMID 9497246)
  6. Graeser MK et al. Contralateral Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers. J Clin Oncol. 2009 Dec 10;27(35): 5887-92. (PMID 19858402)
  7. King MC et al. Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science. 2003 Oct;302(5645):643-6. (PMID 14576434)
  8. Leide A et al. Cancer Risks for Male Carriers of Germline Mutations in BRCA1 or BRCA2: A Review of the Literature. J Clin Oncol. 2004 Feb 15;22(4):735-42. (PMID 14966099)
  9. Levine DA et al. Fallopian Tube and Primary Peritoneal Carcinomas Associated With BRCA Mutations. J Clin Oncol. 2003 Nov 15;21(22):4222-7. (PMID 14615451)
  10. NCCN Guidelines. Genetic/Familial High-Risk Assessment: Breast and Ovarian. Version 2.2013 (URL: http://www.nccn.org/clinical.asp) [May 2013 accessed].
  11. Ozcelik H et al. Germline BRCA26174delT mutations in Ashkenazi Jewish pancreatic cancer patients. Nat Genet. 1997 May;16(1):17-8. (PMID 9140390)
  12. Pennington KP et al. BRCA1, TP53, and CHEK2 germline mutations in uterine serous carcinoma. Cancer. 2013 Jan;119(2):332-8. (PMID 22811390)
  13. Pharoah PD et al. Polygenic susceptibility to breast cancer and implications for prevention. Nat Genet. 2002 May;31(1):33-6. (PMID 11984562)
  14. Risch HA et al. Population BRCA1 and BRCA2 mutation frequencies and cancer penetrances: a kin-cohort study in Ontario. J Natl Cncer Inst. 2006 Dec;98(23):1694-706. (PMID 17148771)
  15. 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) [May 2013 accessed].
  16. The Breast Cancer Linkage Consortium. Cancer risks in BRCA2 mutation carriers. J Natl Cancer Inst. 1999 Aug;91(15):1310-6. (PMID 10433620)
  17. Van der Groep P, van der Wall E, and van Diest PJ. Pathology of hereditary breast cancer. Cell Oncol (Dordrecht). 2011 Apr;34(2):71-88. (PMID: 21336636)
  18. Walsh T et al. Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. Proc Natl Acad Sci. 2011 Nov;108(44):18032-7. (PMID: 22006311)
BRCA1/ BRCA2 Ashkenazi Founder Panel

Forms and Documents

Test Details

BRCA1, BRCA2
  • Per NCCN guidelines, any woman of Ashkenazi Jewish ancestry who has been diagnosed with breast or ovarian cancer meets criteria for BRCA founder variant testing.
  • Verification of a genetic basis for cancer in families indicative or suggestive of hereditary breast and ovarian cancer.
  • Determination of appropriate screening and treatment.
  • Identification of at-risk family members.
  • Capillary Sequencing

Ordering

B361
8-10 days
2-5 mL Blood - Lavender Top Tube
Buccal Swab | Fibroblasts (separate charge for cell culture may apply) | Oral Rinse

Billing

81212x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Antoniou A et al. Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet. 2003 May;72(5):1117-30. (PMID 12677558)
  2. Biron-Shental T et al. High incidence of BRCA1-2 germline mutations, previous breast cancer and familial cancer history in Jewish patients with uterine serous papillary carcinoma. Eur J Surg Oncol. 2006 Dec;32(10):1097-100. (PMID 16650962)
  3. Chen S and Parmigiani G. Meta-anlaysis of BRCA1 and BRCA2 penetrance. J Clin Oncol. 2007 Apr;25(11):1329-33. (PMID 17416853)
  4. Easton DF. How many more breast cancer predisposition genes are there? Breast Can Res. 1999 Aug;1(1):14-17. (PMID 11250676)
  5. Ford D et al. Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium. Am J Hum Genet. 1998 Mar;62(3):676-89. (PMID 9497246)
  6. Frank TS et al. Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: analysis of 10,000 individuals. J Clin Oncol. 2002 Mar 15;20(6):1480-90. (PMID 11896095)
  7. Graeser MK et al. Contralateral Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers. J Clin Oncol. 2009 Dec 10;27(35): 5887-92. (PMID 19858402)
  8. Kauff ND et al. Incidence of non-founder BRCA1 and BRCA2 mutations in high risk Ashkenazi breast and ovarian cancer families. J Med Genet. 2002; 39(8):611-4. (PMID 12023992)
  9. King MC et al. Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science. 2003 Oct;302(5645):643-6. (PMID 14576434)
  10. Leide A et al. Cancer Risks for Male Carriers of Germline Mutations in BRCA1 or BRCA2: A Review of the Literature. J Clin Oncol. 2004 Feb 15;22(4):735-42. (PMID 14966099)
  11. Levine DA et al. Fallopian Tube and Primary Peritoneal Carcinomas Associated With BRCA Mutations. J Clin Oncol. 2003 Nov 15;21(22):4222-7. (PMID 14615451)
  12. NCCN Guidelines. Genetic/Familial High-Risk Assessment: Breast and Ovarian. Version 2.2013 (URL: http://www.nccn.org/clinical.asp) [May 2013 accessed].
  13. Ozcelik H et al. Germline BRCA26174delT mutations in Ashkenazi Jewish pancreatic cancer patients. Nat Genet. 1997 May;16(1):17-8. (PMID 9140390)
  14. Pennington KP et al. BRCA1, TP53, and CHEK2 germline mutations in uterine serous carcinoma. Cancer. 2013 Jan;119(2):332-8. (PMID 22811390)
  15. Pharoah PD et al. Polygenic susceptibility to breast cancer and implications for prevention. Nat Genet. 2002 May;31(1):33-6. (PMID 11984562)
  16. Risch HA et al. Population BRCA1 and BRCA2 mutation frequencies and cancer penetrances: a kin-cohort study in Ontario. J Natl Cncer Inst. 2006 Dec;98(23):1694-706. (PMID 17148771)
  17. Roa BB et al. Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2. Nat Genet. 1996 Oct;14(2):185-7. (PMID 8841191)
  18. Struewing JP et al. The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals. Nat Genet. 1995 Jan;12(1):110. (PMID 7550349)
  19. 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) [May 2013 accessed].
  20. The Breast Cancer Linkage Consortium. Cancer risks in BRCA2 mutation carriers. J Natl Cancer Inst. 1999 Aug;91(15):1310-6. (PMID 10433620)
  21. Van der Groep P, van der Wall E, and van Diest PJ. Pathology of hereditary breast cancer. Cell Oncol (Dordrecht). 2011 Apr;34(2):71-88. (PMID: 21336636)
  22. Walsh T et al. Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. Proc Natl Acad Sci. 2011 Nov;108(44):18032-7. (PMID: 22006311)
BRCA1 and BRCA2 Sequencing

Forms and Documents

Test Details

BRCA1, BRCA2
  • Verification of a genetic basis for cancer in families indicative/suggestive of hereditary breast and ovarian cancer.
  • Determination of appropriate screening and treatment.
  • Identification of at-risk family members.
  • Next-Gen Sequencing

Ordering

B502
8-10 days
2-5 mL Blood - Lavender Top Tube
Buccal Swab | Fibroblasts (separate charge for cell culture may apply) | Oral Rinse

Billing

81211x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Antoniou A et al. Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet. 2003 May;72(5):1117-30. (PMID 12677558)
  2. Biron-Shental T et al. High incidence of BRCA1-2 germline mutations, previous breast cancer and familial cancer history in Jewish patients with uterine serous papillary carcinoma.Eur J SurgOncol. 2006 Dec;32(10):1097-100. (PMID 16650962)
  3. Chen S and Parmigiani G. Meta-anlaysis of BRCA1 and BRCA2 penetrance.J ClinOncol. 2007 Apr;25(11):1329-33. (PMID 17416853)
  4. Easton DF. How many more breast cancer predisposition genes are there? Breast Can Res. 1999 Aug;1(1):14-17. (PMID 11250676)
  5. Ford D et al. Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium.Am J Hum Genet. 1998 Mar;62(3):676-89. (PMID 9497246)
  6. Graeser MK et al. Contralateral Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers. J ClinOncol. 2009 Dec 10;27(35): 5887-92. (PMID 19858402)
  7. Judkins T et al. Clinical significance of large rearrangements in BRCA1 and BRCA2.Cancer. 2012 Nov 1;118(21):5210-6. (PMID 22544547)
  8. King MC et al. Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science. 2003 Oct;302(5645):643-6. (PMID 14576434)
  9. Leide A et al. Cancer Risks for Male Carriers of Germline Mutations in BRCA1 or BRCA2: A Review of the Literature. J ClinOncol. 2004 Feb 15;22(4):735-42. (PMID 14966099)
  10. Levine DA et al. Fallopian Tube and Primary Peritoneal Carcinomas Associated With BRCA Mutations. J ClinOncol. 2003 Nov 15;21(22):4222-7. (PMID 14615451)
  11. NCCN Guidelines. Genetic/Familial High-Risk Assessment: Breast and Ovarian. Version 2.2013 (URL: http://www.nccn.org/clinical.asp) [May 2013 accessed].
  12. Ozcelik H et al. Germline BRCA26174delT mutations in Ashkenazi Jewish pancreatic cancer patients.Nat Genet. 1997 May;16(1):17-8. (PMID 9140390)
  13. Pennington KP et al. BRCA1, TP53, and CHEK2 germline mutations in uterine serous carcinoma.Cancer. 2013 Jan;119(2):332-8. (PMID 22811390)
  14. Pharoah PD et al. Polygenic susceptibility to breast cancer and implications for prevention.Nat Genet. 2002 May;31(1):33-6. (PMID 11984562)
  15. Risch HA et al. Population BRCA1 and BRCA2 mutation frequencies and cancer penetrances: a kin-cohort study in Ontario. J NatlCncer Inst. 2006 Dec;98(23):1694-706. (PMID 17148771)
  16. 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) [May 2013 accessed].
  17. The Breast Cancer Linkage Consortium. Cancer risks in BRCA2 mutation carriers. J Natl Cancer Inst. 1999 Aug;91(15):1310-6. (PMID 10433620)
  18. Van der Groep P, van der Wall E, and van Diest PJ. Pathology of hereditary breast cancer.Cell Oncol (Dordrecht). 2011 Apr;34(2):71-88. (PMID: 21336636)
  19. Walsh T et al. Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer. JAMA. 2006 Mar 22;295(12):1379-88. (PMID 16551709)
  20. Walsh T et al. Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. ProcNatlAcad Sci. 2011 Nov;108(44):18032-7. (PMID: 22006311)
BRCA1 and BRCA2 Del/Dup

Forms and Documents

Test Details

BRCA1, BRCA2
  • Verification of a genetic basis for cancer in families indicative/suggestive of hereditary breast and ovarian cancer.
  • Determination of appropriate screening and treatment.
  • Identification of at-risk family members.
  • Deletion/Duplication Analysis

Ordering

B501
8-10 days
2-5 mL Blood - Lavender Top Tube
Buccal Swab | Fibroblasts (separate charge for cell culture may apply) | Oral Rinse

Billing

81213x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Antoniou A et al. Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet. 2003 May;72(5):1117-30. (PMID 12677558)
  2. Biron-Shental T et al. High incidence of BRCA1-2 germline mutations, previous breast cancer and familial cancer history in Jewish patients with uterine serous papillary carcinoma.Eur J SurgOncol. 2006 Dec;32(10):1097-100. (PMID 16650962)
  3. Chen S and Parmigiani G. Meta-anlaysis of BRCA1 and BRCA2 penetrance.J ClinOncol. 2007 Apr;25(11):1329-33. (PMID 17416853)
  4. Easton DF. How many more breast cancer predisposition genes are there? Breast Can Res. 1999 Aug;1(1):14-17. (PMID 11250676)
  5. Ford D et al. Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium.Am J Hum Genet. 1998 Mar;62(3):676-89. (PMID 9497246)
  6. Graeser MK et al. Contralateral Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers. J ClinOncol. 2009 Dec 10;27(35): 5887-92. (PMID 19858402)
  7. Judkins T et al. Clinical significance of large rearrangements in BRCA1 and BRCA2.Cancer. 2012 Nov 1;118(21):5210-6. (PMID 22544547)
  8. King MC et al. Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science. 2003 Oct;302(5645):643-6. (PMID 14576434)
  9. Leide A et al. Cancer Risks for Male Carriers of Germline Mutations in BRCA1 or BRCA2: A Review of the Literature. J ClinOncol. 2004 Feb 15;22(4):735-42. (PMID 14966099)
  10. Levine DA et al. Fallopian Tube and Primary Peritoneal Carcinomas Associated With BRCA Mutations. J ClinOncol. 2003 Nov 15;21(22):4222-7. (PMID 14615451)
  11. NCCN Guidelines. Genetic/Familial High-Risk Assessment: Breast and Ovarian. Version 2.2013 (URL: http://www.nccn.org/clinical.asp) [May 2013 accessed].
  12. Ozcelik H et al. Germline BRCA26174delT mutations in Ashkenazi Jewish pancreatic cancer patients.Nat Genet. 1997 May;16(1):17-8. (PMID 9140390)
  13. Pennington KP et al. BRCA1, TP53, and CHEK2 germline mutations in uterine serous carcinoma.Cancer. 2013 Jan;119(2):332-8. (PMID 22811390)
  14. Pharoah PD et al. Polygenic susceptibility to breast cancer and implications for prevention.Nat Genet. 2002 May;31(1):33-6. (PMID 11984562)
  15. Risch HA et al. Population BRCA1 and BRCA2 mutation frequencies and cancer penetrances: a kin-cohort study in Ontario. J NatlCncer Inst. 2006 Dec;98(23):1694-706. (PMID 17148771)
  16. 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) [May 2013 accessed].
  17. The Breast Cancer Linkage Consortium. Cancer risks in BRCA2 mutation carriers. J Natl Cancer Inst. 1999 Aug;91(15):1310-6. (PMID 10433620)
  18. Van der Groep P, van der Wall E, and van Diest PJ. Pathology of hereditary breast cancer.Cell Oncol (Dordrecht). 2011 Apr;34(2):71-88. (PMID: 21336636)
  19. Walsh T et al. Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer. JAMA. 2006 Mar 22;295(12):1379-88. (PMID16551709)
  20. Walsh T et al. Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. ProcNatlAcad Sci. 2011 Nov;108(44):18032-7. (PMID: 22006311)
Breast Cancer Management Panel

Forms and Documents

Test Details

ATM, BRCA1, BRCA2, CDH1, CHEK2, NBN, PALB2, PTEN, TP53
  • Breast cancer diagnosed under 50 years of age
  • Multiple cancers in one person, either of the same origin (such as two separate breast cancers) or of different origins (such as breast cancer and ovarian cancer)
  • Ovarian cancer or male breast cancer at any age
  • Multiple relatives diagnosed with the same or related cancers (including breast, ovarian, pancreatic and/or prostate) on the same side of the family and spanning multiple generations
  • Ashkenazi Jewish ancestry with a history of breast, ovarian or pancreatic cancer
  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering

J055
2 weeks (8-10 days RUSH for surgical intervention)
2-5 mL Blood - Lavender Top Tube
Buccal Swab | Fibroblasts (separate charge for cell culture may apply) | Oral Rinse

Billing

81162x1, 81321x1, 81323x1, 81406x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Antoniou A et al. Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet. 2003 May;72(5):1117-30. (PMID 12677558)
  2. Antoniou A et al. Breast-cancer risk in families with mutations in PALB2. N Engl J Med. 2014 Aug 7;371(6):497-506. (PMID 25099575)
  3. Biron-Shental T et al. High incidence of BRCA1-2 germline mutations, previous breast cancer and familial cancer history in Jewish patients with uterine serous papillary carcinoma. Eur J Surg Oncol. 2006 Dec;32(10):1097-100. (PMID 16650962)
  4. Brooks-Wilson AR. Germline E-cadherin mutations in hereditary diffuse gastric cancer: assessment of 42 new families and review of genetic screening criteria. J Med Genet. 2004 Jul;41(7):508-17. (PMID 15235021)
  5. Bubien V et al. High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome. J Med Genet. 2013 Apr;50(4):255-63. (PMID 23335809)
  6. Byrnes GB et al. Are the so-called low penetrance breast cancer genes, ATM, BRIP1, PALB2, and CHEK2, high risk for women with strong family histories? Breast Cancer Res. 2008;10(3):208. (PMID 18557994)
  7. Casadei S et al. Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer. Cancer Res. 2011 Mar 15;71(6):2222-9. (PMID 21285249)
  8. Chen S and Parmigiani G. Meta-anlaysis of BRCA1 and BRCA2 penetrance. J Clin Oncol. 2007 Apr;25(11):1329-33. (PMID 17416853)
  9. Chompret A et al. P53 germline mutations in childhood cancers and cancer risk for carrier individuals. Br J Cancer. 2000 Jun;82(12):1932-7. (PMID 10864200)
  10. Claus EB et al. The genetic attributable risk of breast and ovarian cancer. Cancer. 1996 Jun 1;77(11):2318-24. (PMID: 8635102)
  11. Cybulski C et al. CHEK2 is a multiorgan cancer susceptibility gene. Am J Hum Genet. 2004 Dec;75(6):1131-5. (PMID 15492928)
  12. Dong X et al. Mutations in CHEK2 associated with prostate cancer risk. Am J Hum Genet. 2003 Feb;72(2):270-80. (PMID 12533788)
  13. Easton DF. How many more breast cancer predisposition genes are there? Breast Can Res. 1999 Aug;1(1):14-17. (PMID 11250676)
  14. Einarsdóttir K et al. Effect of ATM, CHEK2 and ERBB2 TAGSNPs and haplotypes on endometrial cancer risk. Hum Mol Genet. 2007 Jan 15;16(2):154-64. (PMID 17164260)
  15. Errko H et al. A recurrent mutation in PALB2 in Finnish cancer families. Nature. 2007 Mar 15;446(7133):316-9. (PMID 17287723)
  16. Fitzgerald RC et al. Hereditary diffuse gastric cancer: updated consensus guidelines for clinical management and directions for future research. J Med Genet. 2010 Jul;47(7):436-44. (PMID 20591882)
  17. Ford D et al. Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium. Am J Hum Genet. 1998 Mar;62(3):676-89. (PMID 9497246)
  18. Giardiello FM et al. Very high risk of cancer in familial Peutz-Jeghers syndrome. Gastroenterology. 2000 Dec;119(6):1447-53. (PMID 11113065)
  19. Gonzalez PD et al. Beyond Li Fraumeni Syndrome: clinical characteristics of families with p53 germline mutations. J Clin Oncol. 2009 Mar 10;27(8):1250-6. (PMID 19204208)
  20. Guilford P. E-cadherin germline mutations in familial gastric cancer. Nature. 1998 Mar 26;392(6674):402-5. (PMID 9537325)
  21. Graeser MK et al. Contralateral Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers. J Clin Oncol. 2009 Dec 10;27(35): 5887-92. (PMID 19858402)
  22. Han FF et al. The effect of CHEK2 variant I157T on cancer susceptibility: evidence from a meta-analysis. DNA Cell Biol. 2013 Jun;32(6):329-35. (PMID 23713947)
  23. Hearle N et al. Frequency and spectrum of cancers in the Peutz-Jeghers syndrome. Clin Cancer Res. 2006 May;12(10):3209-15. (PMID 16707622)
  24. Hisada M et al. Multiple primary cancers in families with Li-Fraumeni syndrome. J Natl Cancer Inst. 1998 Apr 15;90(8):606-11. (PMID 9554443)
  25. Hobert JA and Eng C. PTEN hamartoma tumor syndrome: An overview. Genet Med 2009:11(10):687– 694. (PMID 19668082)
  26. Jones S et al. Exomic sequencing identifies PALB2 as a pancreatic cancer susceptibility gene. Science. 2009 Apr 10;324(5924):217. (PMID 19264984)
  27. Kaurah P. Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer. JAMA. 2007 Jun 6;297(21):2360-72. (PMID 17545690)
  28. Kilpivaara O et al. CHEK2 I157T associates with familial and sporadic colorectal cancer. J Med Genet. 2006 Jul;43(7):e34. (PMID 16816021)
  29. King MC et al. Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science. 2003 Oct;302(5645):643-6. (PMID 14576434)
  30. Leide A et al. Cancer Risks for Male Carriers of Germline Mutations in BRCA1 or BRCA2: A Review of the Literature. J Clin Oncol. 2004 Feb 15;22(4):735-42. (PMID 14966099)
  31. Levine DA et al. Fallopian Tube and Primary Peritoneal Carcinomas Associated With BRCA Mutations. J Clin Oncol. 2003 Nov 15;21(22):4222-7. (PMID 14615451)
  32. Liu C et al. The CHEK2 I157T variant and colorectal cancer susceptibility: a systematic review and meta-analysis. Asian Pac J Cancer Prev. 2012;13(5):2051-5. (PMID 22901170)
  33. NCCN Guidelines. Genetic/Familial High-Risk Assessment: Colorectal. Version 1.2015 (URL: http://www.nccn.org) [June 2015 accessed].
  34. NCCN Guidelines. Gastric Cancer. Version 3.2015 (URL: http://www.nccn.org) [June 2015 accessed].
  35. NCCN Guidelines. Genetic/Familial High-Risk Assessment: Breast and Ovarian. Version 1.2015 (URL: http://www.nccn.org) [June 2015 accessed].
  36. Olivier M et al. Li-Fraumeni and related syndromes: correlation between tumor type, family structure, and TP53 genotype. Cancer Res. 2003 Oct 15;63(20):6643-50. (PMID 14583457)
  37. Pennington KP et al. BRCA1, TP53, and CHEK2 germline mutations in uterine serous carcinoma. Cancer. 2013 Jan;119(2):332-8. (PMID 22811390)
  38. Petridis C et al. Germline CDH1 mutations in bilateral lobular carcinoma in situ. Br J Cancer. 2014 Feb 18;110(4):1053-7. (PMID 24366306)
  39. Pharoah PD et al. Incidence of gastric cancer and breast cancer in CDH1 (E-cadherin) mutation carriers from hereditary diffuse gastric cancer families. Gastroenterology. 2001 Dec;121(6):1348-53. (PMID 11729114)
  40. Pharoah PD et al. Polygenic susceptibility to breast cancer and implications for prevention. Nat Genet. 2002 May;31(1):33-6. (PMID 11984562)
  41. Rahman N et al. PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. Nat Genet. 2007 Feb;39(2):165-7. (PMID 17200668)
  42. Renwick A et al. ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles. Nat Genet. 2006 Aug; 38(8):873-5. (PMID 16832357)
  43. Risch HA et al. Population BRCA1 and BRCA2 mutation frequencies and cancer penetrances: a kin-cohort study in Ontario. J Natl Cncer Inst. 2006 Dec;98(23):1694-706. (PMID 17148771)
  44. Roberts NJ et al. ATM Mutations in Patients with Hereditary Pancreatic Cancer. Cancer Discov. 2012 Jan;2(1):41-6. (PMID 22585167)
  45. Ruijs MWG et al. TP53 germline mutation testing in 180 families suspected of LieFraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes. J Med Genet. 2010 Jun;47(6):421-8. (PMID 20522432)
  46. 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)
  47. Schrader KA et al. Germline mutations in CDH1 are infrequent in women with early-onset or familial lobular breast cancers. J Med Genet. 2011 Jan;48(1):64-8. (PMID 20921021)
  48. Seppala EH et al. CHEK2 variants associate with hereditary prostate cancer. Br J Cancer. 2003 Nov 17;89(10):1966-70. (PMID 14612911)
  49. Slater EP et al. PALB2 mutations in European familial pancreatic cancer families. Clin Genet. 2010 Nov;78(5):490-4. (PMID 20412113)
  50. Suchy J et al. CHEK2 mutations and HNPCC-related colorectal cancer. Int J Cancer. 2010 Jun 15;126(12):3005-9. (PMID 19876921)
  51. 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) [May 2013 accessed].
  52. Tavtigian SV et al. Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer. Am J Hum Genet. 2009 Oct;85(4):427-46. (PMID 19781682)
  53. The CHEK2 Breast Cancer Consortium. CHEK2*1100delC and susceptibility to breast cancer: a collaborative analysis involving 10,860 breast cancer cases and 9,065 controls from 10 studies. Am J Hum Genet. 2004 Jun;74(6):1175-82. (PMID 15122511)
  54. Thompson D et al. Cancer risks and mortality in heterozygous ATM mutation carriers. J Natl Cancer Inst. 2005 Jun 1; 97(11):813-22. (PMID 15928302)
  55. Van der Groep P, van der Wall E, and van Diest PJ. Pathology of hereditary breast cancer. Cell Oncol (Dordrecht). 2011 Apr;34(2):71-88. (PMID 21336636)
  56. Walsh T et al. Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. Proc Natl Acad Sci U S A. 2011 Nov 1;108(44):18032-7. (PMID 22006311)
Breast/Gyn Cancer Panel

Forms and Documents

Test Details

ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, FANCC, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, POLD1, PTEN, RAD51C, RAD51D, RECQL, TP53
  • Breast or endometrial (uterine) cancer diagnosed under 50 years of age
  • Multiple cancers in one person, either of the same origin (such as two separate breast cancers) or of different origins (such as breast cancer and ovarian cancer or endometrial and colon cancer)
  • Ovarian cancer or male breast cancer at any age
  • Multiple relatives diagnosed with the same or related cancers (including breast, ovarian, endometrial, pancreatic and/or prostate) on the same side of the family and spanning multiple generations
  • Ashkenazi Jewish ancestry with a history of breast, ovarian or pancreatic cancer
  • Deletion/Duplication Analysis
  • Next-Gen Sequencing
  • MLPA

Ordering

B273
2 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swab | Fibroblasts (separate charge for cell culture may apply) | Oral Rinse

Billing

81162x1, 81321x1, 81292x1, 81294x1
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. Easton DF. How many more breast cancer predisposition genes are there? Breast Can Res. 1999 Aug;1(1):14-17. (PMID 11250676)
  3. 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].
  4. NCCN CRC Guidelines. Colorectal Cancer Screening. Version 2.2013 (URL: http://www.nccn.org/clinical.asp) [July 2013 accessed].
  5. Pharoah PD et al. Polygenic susceptibility to breast cancer and implications for prevention. Nat Genet. 2002 May;31(1):33-6. (PMID 11984562)
  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) [May 2013 accessed].
  8. van der Groep P, van der Wall E, and van Diest PJ. Pathology of hereditary breast cancer. Cell Oncol (Dordrecht). 2011 Apr;34(2):71-88. (PMID: 21336636)
  9. Walsh T et al. Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. Proc Natl Acad Sci. 2011 Nov;108(44):18032-7. (PMID: 22006311)
Breast Cancer Surgical Panel

Forms and Documents

Test Details

BRCA1, BRCA2, PALB2
  • Identify the genetic basis of breast cancer for individuals who have features and/or a family history consistent with one of the hereditary cancer syndromes described above.
  • To possibly help determine appropriate clinical management recommendations based on a molecular diagnosis, including surgical management decisions for patients recently diagnosed with breast cancer.
  • Identify family members at-risk to develop features associated with a specific hereditary cancer syndrome.
  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering

J662
8-10 days
2-5 mL Blood - Lavender Top Tube
Buccal Swab | Fibroblasts (separate charge for cell culture may apply) | Oral Rinse

Billing

81162x1, 81406x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Antoniou A et al. Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet. 2003 May;72(5):1117-30. (PMID 12677558)
  2. Antoniou A et al. Breast-cancer risk in families with mutations in PALB2. N Engl J Med. 2014 Aug 7;371(6):497-506. (PMID 25099575)
  3. Biron-Shental T et al. High incidence of BRCA1-2 germline mutations, previous breast cancer and familial cancer history in Jewish patients with uterine serous papillary carcinoma. Eur J Surg Oncol. 2006 Dec;32(10):1097-100. (PMID 16650962)
  4. Byrnes GB et al. Are the so-called low penetrance breast cancer genes, ATM, BRIP1, PALB2, and CHEK2, high risk for women with strong family histories? Breast Cancer Res. 2008;10(3):208. (PMID 18557994)
  5. Casadei S et al. Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer. Cancer Res. 2011 Mar 15;71(6):2222-9. (PMID 21285249)
  6. Chen S and Parmigiani G. Meta-anlaysis of BRCA1 and BRCA2 penetrance. J Clin Oncol. 2007 Apr;25(11):1329-33. (PMID 17416853)
  7. Claus EB et al. The genetic attributable risk of breast and ovarian cancer. Cancer. 1996 Jun 1;77(11):2318-24. (PMID: 8635102)
  8. Easton DF. How many more breast cancer predisposition genes are there? Breast Can Res. 1999 Aug;1(1):14-17. (PMID 11250676)
  9. Errko H et al. A recurrent mutation in PALB2 in Finnish cancer families. Nature. 2007 Mar 15;446(7133):316-9. (PMID 17287723)
  10. Ford D et al. Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium. Am J Hum Genet. 1998 Mar;62(3):676-89. (PMID 9497246)
  11. Graeser MK et al. Contralateral Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers. J Clin Oncol. 2009 Dec 10;27(35): 5887-92. (PMID 19858402)
  12. Jones S et al. Exomic sequencing identifies PALB2 as a pancreatic cancer susceptibility gene. Science. 2009 Apr 10;324(5924):217. (PMID 19264984)
  13. King MC et al. Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science. 2003 Oct;302(5645):643- 6. (PMID 14576434)
  14. Leide A et al. Cancer Risks for Male Carriers of Germline Mutations in BRCA1 or BRCA2: A Review of the Literature. J Clin Oncol. 2004 Feb 15;22(4):735-42. (PMID 14966099)
  15. Levine DA et al. Fallopian Tube and Primary Peritoneal Carcinomas Associated With BRCA Mutations. J Clin Oncol. 2003 Nov 15;21(22):4222-7. (PMID 14615451)
  16. Pennington KP et al. BRCA1, TP53, and CHEK2 germline mutations in uterine serous carcinoma. Cancer. 2013 Jan;119(2):332-8. (PMID 22811390)
  17. Pharoah PD et al. Polygenic susceptibility to breast cancer and implications for prevention. Nat Genet. 2002 May;31(1):33-6. (PMID 11984562)
  18. Rahman N et al. PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. Nat Genet. 2007 Feb;39(2):165-7. (PMID 17200668)
  19. Risch HA et al. Population BRCA1 and BRCA2 mutation frequencies and cancer penetrances: a kin-cohort study in Ontario. J Natl Cncer Inst. 2006 Dec;98(23):1694-706. (PMID 17148771)
  20. Slater EP et al. PALB2 mutations in European familial pancreatic cancer families. Clin Genet. 2010 Nov;78(5):490-4. (PMID 20412113)
  21. Surveillance, Epidemiology, and End Results (SEER) Program of the National Cancer Institute. SEER Cancer Statistics Review, 1975-2012: Lifetime Risk Tables (URL: http://surveillance.cancer.gov/devcan) [October 2016 accessed].
  22. Van der Groep P, van der Wall E, and van Diest PJ. Pathology of hereditary breast cancer. Cell Oncol (Dordrecht). 2011 Apr;34(2):71-88. (PMID: 21336636)

New Billing Policy - Please contact your local genetic testing specialist for information on our updated reflex testing options

Over the past ten years, research has identified many genes associated with hereditary cancers. Some of these genes play a role in more than one type of cancer, and in most types of cancer several genes can cause the cancer. GeneDx has developed comprehensive panels to facilitate testing of all the important genes associated with inherited cancer, in a manner that provides rapid and accurate results and at typically no additional cost as compared to testing for a single gene. For a chart comparing the genes available on our panels, and the tumor and cancer risks associated with the various genes included within, please see the resources tab on this page

Colorectal Cancer and Lynch Syndrome

MSH2 Exons 1-7 Inversion Analysis

Forms and Documents

Test Details

MSH2
  • 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)
Lynch/Colorectal High Risk Panel

Forms and Documents

Test Details

APC, EPCAM, MLH1, MSH2, MSH6, MUTYH, PMS2
  • 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
  • Deletion/Duplication Analysis
  • 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)
Colorectal Cancer Panel

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
  • 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
  • Deletion/Duplication Analysis
  • 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
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)

New Billing Policy - Please contact your local genetic testing specialist for information on our updated reflex testing options

Over the past ten years, research has identified many genes associated with hereditary cancers. Some of these genes play a role in more than one type of cancer, and in most types of cancer several genes can cause the cancer. GeneDx has developed comprehensive panels to facilitate testing of all the important genes associated with inherited cancer, in a manner that provides rapid and accurate results and at typically no additional cost as compared to testing for a single gene. For a chart comparing the genes available on our panels, and the tumor and cancer risks associated with the various genes included within, please see the resources tab on this page

Multiple Cancers

Common Cancer Management Panel

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
  • 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
  • Deletion/Duplication Analysis
  • 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].
Comprehensive Common Cancer Panel

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
  • 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
  • Deletion/Duplication Analysis
  • 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].
Hereditary Pancreatitis Panel

Forms and Documents

Test Details

CASR, CFTR, CTRC, PRSS1, SPINK1
  • Unexplained acute pancreatitis in early childhood or teenage years
  • Recurrent acute pancreatitis of unknown cause, especially before the age of 20
  • Chronic pancreatitis, especially before the age of 20
  • Deletion/Duplication Analysis
  • Next-Gen Sequencing
  • MLPA

Ordering

J899
3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swab | Fibroblasts (separate charge for cell culture may apply) | Oral Rinse

Billing

81222x1, 81223x1, 81401x2, 81404x1, 81405 x1
Yes
Yes
* For price inquiries please email zebras@genedx.com
Pancreatic Cancer Panel

Forms and Documents

Test Details

APC, ATM, BRCA1, BRCA2, CDK4, CDKN2A, EPCAM, MLH1, MSH2, MSH6, PALB2, PMS2, STK11, TP53, VHL
  • Pancreatic cancer diagnosed at an early age
  • Multiple cancers in one person (such as pancreatic cancer and breast cancer)
  • Multiple relatives diagnosed with pancreatic cancer and/or related cancers (including breast, colon, melanoma etc.) on the
  • same side of the family and spanning multiple generations
  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering

B343
2 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swab | Fibroblasts (separate charge for cell culture may apply) | Oral Rinse

Billing

81162x1, 81201x1, 81404x1
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. Eckerle Mize D, Bishop M, Resse E, and Sluzevich J (2009). Familial Atypical Multiple Mole Melanoma Syndrome. In Riegert-Johnson DL, Boardman LA, Hefferon T, and Roberts M (Eds), Cancer Syndromes [Internet]. Bethesda (MD): NCBI.
  4. Frantzen C, Links TP, and Giles RH. Von Hippel-Lindau Disease. (2000 [updated 2012]). In Pagon RA, Adam MP, Bird TD, Dolan CR, Fong CT, and Stephens K (Eds), GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle.
  5. Grover S, Syngal S. Hereditary pancreatic cancer. Gastroenterol 2010 Oct;139(4):1076-80. (PMID 20727885)
  6. Lowenfels AB and Maisonneuve P. Epidemiology and risk factors for pancreatic cancer. Best Pract Res Clin Gastroenterol. 2006 Apr;20(2):197-209. (PMID 16549324)
  7. Lynch HT, Smyrk, Kern SE, et al. Familial pancreatic cancer: a review. Semin Oncol. 1996 Apr;23(2):251-75. (PMID 8623061)
  8. Brand RE, Lynch HT. Hereditary pancreatic adenocarcinoma. A clinical perspective. Med Clin North Am. 2000 May;84(3):665-75. (PMID 10872423)
  9. 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].
  10. Wimmer K and Kratz CP. Constitutional mismatch repair-deficiency syndrome. Haematologica. 2010 May; 95(5): 699–701. (PMID 20442441)
Melanoma Panel

Forms and Documents

Test Details

BAP1, BRCA2, CDK4, CDKN2A, MITF, POT1, PTEN, RB1, TP53
  • Identification of a hereditary susceptibility to malignant melanoma
  • Development of a clinical surveillance plan for early detection
  • Identification of at-risk family members
  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering

B399
2 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swab | Fibroblasts (separate charge for cell culture may apply) | Oral Rinse

Billing

81216x1, 81321x1, 81323x1, 81405x1 to 81404x1, 81479x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Begg CB et al. Lifetime risk of melanoma in CDKN2A mutation carriers in a population-based sample. J Natl Cancer Inst. 2005 Oct 19;97(20):1507-15. (PMID: 16234564)
  2. Bishop DT et al. Geographical variation in the penetrance of CDKN2A mutations for melanoma. J Natl Cancer Inst. 2002 Jun 19;94(12):894-903. (PMID: 12072543)
  3. 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)
  4. de Snoo FA et al. Increased risk of cancer other than melanoma in CDKN2A founder mutation (p16-Leiden)-positive melanoma families. Clin Cancer Res. 2008 Nov 1;14(21):7151-7. (PMID: 18981015)
  5. Gabree M et al. Clinical applications of melanoma genetics. Curr Treat Options Oncol. 2014 Jun;15(2):336-50. (PMID: 24652319)
  6. Goldstein AM et al. Familial melanoma, pancreatic cancer and germline CDKN2A mutations. Hum Mutat. 2004 Jun;23(6):630. (PMID: 15146471)
  7. Goldstein AM et al. Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents. J Med Genet. 2007 Feb;44(2):99-106. (PMID: 16905682)
  8. Hayward NK et al. Genetics of melanoma predisposition. Oncogene. 2003 May 19;22(20):3053-62. (PMID: 12789280)
  9. Mistry SH et al. Prevalence of 9p21 deletions in UK melanoma families. Genes Chromosomes Cancer. 2005 Nov;44(3):292-300. (PMID: 16032697)
  10. National Cancer Institute. Melanoma. (URL: http://www.cancer.gov/cancertopics/pdq/genetics/skin/HealthProfessional/page4#Section_397) [November 2014 accessed]
  11. Puntervoll HE et al. Melanoma prone families with CDK4 germline mutation: phenotypic profile and associations with MC1R variants. J Med Genet. 2013 Apr;50(4):264-70. (PMID: 23384855)
  12. Randerson-Moor JA et al. A germline deletion of p14(ARF) but not CDKN2A in a melanoma-neural system tumour syndrome family. Hum Mol Genet. 2001 Jan 1;10(1):55-62. (PMID: 11136714)
  13. Royal College of Physicians and British Association of Dermatologists. The prevention, diagnosis, referral and management of melanoma of the skin; concise guidelines. Concise guidance to good practice series, No 7. London: RCP, 2007 (URL: https://www.rcpl
  14. Rulyal SJ et al. Characterization of the neoplastic phenotype in the familial atypical multiple-mole melanoma-pancreatic carcinoma syndrome. Cancer. 2003 Aug 15;98(4):798-804. (PMID: 12910525)
  15. Sekulic A et al. Malignant melanoma in the 21st century: the emerging molecular landscape. Mayo Clin Proc. 2008 Jul;83(7):825-46. (PMID: 18613999)
  16. 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) [October 2014 accessed].
  17. van der Ree J et al. Clinical and histologic characteristics of malignant melanoma in families with a germline mutation in CDKN2A. J Am Acad Dermatol. 2011 Aug;65(2):281-8. (PMID: 21570156)
  18. Vasen HF et al. Risk of developing pancreatic cancer in families with familial atypical multiple mole melanoma associated with a specific 19 deletion of p16 (p16- Leiden). Int J Cancer. 2000 Sep 15;87(6):809-11. (PMID: 10956390)
Pediatric Tumor Panel

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)
Hereditary Prostate Cancer Panel

Forms and Documents

Test Details

ATM, BRCA1, BRCA2, BRIP1, CHEK2, EPCAM, HOXB13, MLH1, MSH2, MSH6, NBN, PALB2, PMS2, RAD51C, RAD51D, TP53
  • Prostate cancer diagnosed at an early age
  • Metastatic/aggressive prostate cancer
  • Multiple cancers in one person (such as prostate and pancreatic cancer)
  • Multiple relatives diagnosed with prostate cancer (especially aggressive; Gleason score ≥ 7) and/or related cancers (including breast, ovarian, pancreatic, colon, endometrial etc.) on the same side of the family and spanning multiple generations
  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering

J665
2 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swab | Fibroblasts (separate charge for cell culture may apply) | Oral Rinse

Billing

81162x1, 81405x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Carter BS et al. Mendelian inheritance of familial prostate cancer. Proc Natl Acad Sci U S A. 1992 Apr 15;89(8):3367-71. (PMID: 1565627)
  2. Cybulski C et al. An inherited NBN mutation is associated with poor prognosis prostate cancer. British Journal Of Cancer. 2013 Feb 5 108(2):461-8. (PMID: 23149842)
  3. 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)
  4. Huang H and Cai B. G84E mutation in HOXB13 is firmly associated with prostate cancer risk: a meta-analysis. Tumour Biology : The Journal Of The International Society For Oncodevelopmental Biology And Medicine. 2014 Feb 35(2):1177-82. (PMID: 24026887)
  5. Hwang SJ et al. Germline p53 mutations in a cohort with childhood sarcoma: sex differences in cancer risk. American Journal Of Human Genetics. 2003 72(4):975-83. (PMID: 12610779)
  6. Lowenfels AB and Maisonneuve P. Epidemiology and risk factors for pancreatic cancer. Best Pract Res Clin Gastroenterol. 2006 Apr;20(2):197-209. (PMID: 16549324)
  7. Pritchard CC et al. Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer. The New England Journal Of Medicine. 2016 Jul 6. (PMID: 27433846)
  8. Ryan S et al. Risk of prostate cancer in Lynch syndrome: a systematic review and meta-analysis. Cancer Epidemiology, Biomarkers & Prevention: A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive
  9. Thompson D, Easton DF, and the Breast Cancer Linkage Consortium. Cancer Incidence in BRCA1 mutation carriers. J Natl Cancer Inst. 2002 Sep;94(18):1358-65. (PMID: 12237281)
  10. Surveillance, Epidemiology, and End Results (SEER) Program of the National Cancer Institute. SEER Cancer Statistics Review, 1975-2012: Lifetime Risk Tables (URL: http://surveillance.cancer.gov/devcan) [October 2016 accessed].
  11. Wimmer K and Kratz CP. Constitutional mismatch repair-deficiency syndrome. Haematologica. 2010 May; 95(5): 699–701. (PMID: 20442441)
Renal Cancer Panel

Forms and Documents

Test Details

BAP1, EPCAM, FH, FLCN, MET, MITF, MLH1, MSH2, MSH6, PMS2, PTEN, SDHB, SDHC, SDHD, TP53, TSC1, TSC2, VHL
  • A personal or family history of renal cancer at a young age (i.e. ≤46 years)
  • A personal or family history of bilateral renal cancer (disease in both kidneys) or multiple primary tumors in a single kidney
  • Multiple renal cancers within a family
  • A pattern of cancer in which the individuals with similar or related cancers (see table below) are on one side of the family spanning multiple generations
  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering

B394
3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swab | Fibroblasts (separate charge for cell culture may apply) | Oral Rinse

Billing

81403x1, 81404x1, 81405x1, 81406x1, 81407x1
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. Coleman JA and Russo P. Hereditary and familial kidney cancer. Current Opinion In Urology. 2009 Sep 19(5):478-85. (PMID: 19584731)
  3. 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)
  4. Kirmani S and Young WF. Hereditary Paraganglioma-Pheochromocytoma Syndromes. 2008 May 21 [Updated 2014 Nov 6]. In: Pagon RA, Bird TD, Dolan CR, et al., editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. Available from
  5. 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)
  6. Lenders JW et al. Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline. The Journal Of Clinical Endocrinology And Metabolism. 2014 Jun;99(6):1915-42.(PMID: 24893135)
  7. Menko FH et al. Birt-Hogg-Dubé syndrome: diagnosis and management. Lancet Oncol. 2009 Dec;10(12):1199-206. (PMID: 19959076)
  8. Menko FH et al. Hereditary leiomyomatosis and renal cell cancer (HLRCC): renal cancer risk, surveillance and treatment. Fam Cancer. 2014 Dec;13(4):637-44. (PMID: 25012257)
  9. NCCN Guidelines. Genetic/Familial High-Risk Assessment: Breast and Ovarian. (URL: http://www.nccn.org/professionals/physician_gls/f_guidelines.asp) [May 2013 accessed]
  10. NCCN Guidelines. Genetic/Familial High-Risk Assessment: Colorectal. (URL: http://www.nccn.org/professionals/physician_gls/f_guidelines.asp) [May 2014 accessed]
  11. Rini BI et al. Renal cell carcinoma. Current Opinion In Oncology. 2006 May 18(3):289-96 (PMID: 16552243)
  12. 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]
  13. Wimmer K and Kratz CP. Constitutional mismatch repair-deficiency syndrome. Haematologica. 2010 May; 95(5): 699–701. (PMID 20442441)
PGL/PCC (Paraganglioma/Pheochromocytoma) Panel

Forms and Documents

Test Details

FH, MAX, MEN1, NF1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL
  • A personal and/or family history of one or more paragangliomas or pheochromocytomas
  • A pattern of cancer in which individuals with similar or related cancers (see table below) are on one side of the family and spanning multiple generations
  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering

B395
3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swab | Fibroblasts (separate charge for cell culture may apply) | Oral Rinse

Billing

81403x1, 81404x3, 81405x2
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. American Thyroid et al. Medullary thyroid cancer: management guidelines of the American Thyroid Association. Thyroid. 2009 Jun;19(6):565-612.
  2. Bryant J et al. Pheochromocytoma: the expanding genetic differential diagnosis. J Natl Cancer Inst. 2003 Aug 20;95(16):1196-204. (PMID: 12928344)
  3. Coughlin EM et al. Molecular analysis and prenatal diagnosis of human fumarase deficiency. Mol Genet Metab. 1998 Apr;63(4):254-62.9635293 (PMID: 9635293)
  4. 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; 1993-2015. Available from: http://www.ncbi.nlm.nih.gov/books/
  5. Gellera C et al. Fumarase deficiency is an autosomal recessive encephalopathy affecting both the mitochondrial and the cytosolic enzymes. Neurology. 1990 Mar;40(3 Pt 1):495-9. 2314594 (PMID: 2314594)
  6. Kirmani S and Young WF. Hereditary Paraganglioma-Pheochromocytoma Syndromes. 2008 May 21 [Updated 2014 Nov 6]. In: Pagon RA, Bird TD, Dolan CR, et al., editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. Available from
  7. Lenders JW et al. Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline. The Journal Of Clinical Endocrinology And Metabolism. 2014 Jun;99(6):1915-42. (PMID: 24893135)
  8. Menko FH et al. Hereditary leiomyomatosis and renal cell cancer (HLRCC): renal cancer risk, surveillance and treatment. Fam Cancer. 2014 Dec;13(4):637-44. (PMID: 25012257)
  9. Mroch AR et al. Detection of a novel FH whole gene deletion in the propositus leading to subsequent prenatal diagnosis in a sibship with fumarase deficiency. Am J Med Genet A. 2012 Jan;158A(1):155-8. (PMID: 22069215)
  10. NCCN Guidelines. Thyroid Carcinoma. Version 2.2015 (URL: http://www.nccn.org/professionals/physician_gls/pdf/thyroid.pdf) November 2015 accessed.
  11. Thakker et al. Clinical Practice Guidelines for Multiple Endocrine Neoplasia Type 1 (MEN1). The Journal of Clinical Endocrinology and Metabolism. 2012;97(9):2990-3011. (PMID: 22723327)
Rest of Comprehensive Common Cancer Panel

Test Details

  • 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

Ordering

B363
2 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swab | Fibroblasts (separate charge for cell culture may apply) | Oral Rinse

Billing

Yes
Yes
* For price inquiries please email zebras@genedx.com
Brain Tumor Panel

Forms and Documents

Test Details

APC, CDKN1B, CDKN2A, DICER1, EPCAM, MEN1, MLH1, MSH2, MSH6, NF1, NF2, PMS2, POT1, PTCH1, PTEN, SMARCA4, SMARCB1, SMARCE1, SUFU, TP53, TSC1, TSC2, VHL
  • A personal or family history of a brain tumor highly associated with a hereditary syndrome (such as: atypical teratoid/rhabdoid tumor (AT/RT), choroid plexus carcinoma, hemangioblastoma, Lhermitte-Duclos Disease).
  • A personal or family history of a brain tumor diagnosed at a young age (≤18 years) along with additional features of a hereditary syndrome.
  • Multiple tumors and/or cancers in one person.
  • Multiple relatives diagnosed with brain tumors and/or related cancers on the same side of the family and spanning multiple generations.
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis
  • Capillary Sequencing

Ordering

T831
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs | Extracted DNA

Billing

81404x1, 81405x1, 81406x1, 81407x1
Yes
Yes
* For price inquiries please email zebras@genedx.com
Hereditary MDS/Leukemia Panel

Forms and Documents

Test Details

ANKRD26, CEBPA, DDX41, ETV6, GATA2, RUNX1, SRP72, TERC, TERT, TP53
  • A personal history of myelodysplastic syndrome diagnosed under age 50.
  • A personal history of leukemia or myelodysplastic syndrome and a family history of a related hematologic disorder.
  • A personal history of leukemia or myelodysplastic syndrome and additional features of a hereditary syndrome.
  • Multiple relatives on the same side of the family diagnosed with leukemia, myelodysplastic syndrome and/or other related features.
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis
  • Capillary Sequencing

Ordering

T830
3 weeks
Fibroblasts (separate charge for cell culture may apply)
Buccal Swabs | 2-5 mL Blood - Lavender Top Tube | Oral Rinse (30-40 mL) | Extracted DNA

Billing

81405x1, 81218x1, 81479x1
No
Yes
* For price inquiries please email zebras@genedx.com
Hyperparathyroidism/Endocrine Tumor Panel

Forms and Documents

Test Details

AIP, APC, CASR, CDC73, CDKN1B, CHEK2, DICER1, MEN1, PRKAR1A, PTEN, RET
  • A personal history of endocrine tumors/disorders (such as: hyperparathyroidism, pituitary adenoma, thyroid cancer, carcinoid tumors, or neuroendocrine tumors).
  • A personal history of parathyroid carcinoma.
  • A personal history of multi-glandular hyperparathyroidism.
  • Multiple relatives on the same side of the family diagnosed with endocrine tumors and/or hyperparathyroidism.
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis
  • Capillary Sequencing

Ordering

T828
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs | Extracted DNA

Billing

81321x1, 81404x1, 81405x1, 81406x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

New Billing Policy - Please contact your local genetic testing specialist for information on our updated reflex testing options

Over the past ten years, research has identified many genes associated with hereditary cancers. Some of these genes play a role in more than one type of cancer, and in most types of cancer several genes can cause the cancer. GeneDx has developed comprehensive panels to facilitate testing of all the important genes associated with inherited cancer, in a manner that provides rapid and accurate results and at typically no additional cost as compared to testing for a single gene. For a chart comparing the genes available on our panels, and the tumor and cancer risks associated with the various genes included within, please see the resources tab on this page

Single-Gene & Other Hereditary Cancer Testing

CDC73 (HRPT2) Gene Sequencing and Del/Dup

Forms and Documents

Test Details

CDC73 (HRPT2)
  • An individual with primary hyperparathyroidism and ossifying fibroma(s) of the jaw
  • An individual with early-onset primary hyperparathyroidism (age <45 years)
  • Children diagnosed with ossifying fibroma(s) of the maxilla or mandible
  • An individual with sporadic and/or early-onset parathyroid carcinoma or adenoma
  • An individual with primary hyperparathyroidism or ossifying jaw fibromas and a personal or family history of features associated with Hyperparathyroidism-Jaw Tumor Syndrome (HPT-JT) such as renal cysts or tumors
  • Familial primary hyperparathyroidism with negative genetic testing for multiple endocrine neoplasia type 1 (MEN1)
  • An unaffected individual with a family history suggestive of CDC73 related conditions (see above) when an affected individual is unavailable for his or her own genetic testing.
  • Capillary Sequencing
  • Deletion/Duplication Analysis

Ordering

721
3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swab | Fibroblasts (separate charge for cell culture may apply) | Oral Rinse

Billing

81479x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Masi et al., (2008) Endocr Relat Cancer 15(4):1115-1126.
  2. Carpten, J. D. et al., (2002) Nature Genet 32: 676-80.
  3. Shattuck, T. et al., (2003) N Engl J Med 349: 1722-9.
  4. Villablanca, A. et al., (2004) J Med Genet 41: e32.
  5. Warner, J. et al., (2004)J Med Genet 41: 155-60.
  6. Mizusawa, N. et al., (2006) Clin Endocrinol 65: 9-16.
  7. Cascon et al., (2011) Genes Chromosomes Cancer 50(11):922-929.
  8. Domingues et al., (2012) Clin Endocrinol 76(1):33-38.
MEN1 Gene Sequencing and Del/Dup

Forms and Documents

Test Details

MEN1
  • An individual with a personal and/or family history of tumors associated with multiple endocrine neoplasia, type I (MEN1) especially parathyroid tumors, gastro-entero-pancreatic neuroendocrine tumors, and anterior pituitary tumors. Other common features include adrenocortical and carcinoid tumors, facial angiofibromas, collagenomas, ependymomas, leiomyomas, lipomas, and meningiomas
  • An individual with multiple primary or multi-focal endocrine tumors
  • An individual with a personal and/or family history of isolated parathyroid tumors concerning for familial isolated hyperparathyroidism (FIHP) which may be associated with pathogenic variants in the MEN1 gene, among others
  • An unaffected individual with a family history suggestive of MEN1 (see above) when an affected individual is unavailable for his or her own genetic testing
  • Capillary Sequencing
  • MLPA

Ordering

719
3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swab | Fibroblasts (separate charge for cell culture may apply) | Oral Rinse

Billing

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

References

  1. Agarwal S. et al., Germline mutations of the MEN1 gene in familial multiple endocrine neoplasia type1 and related states. Hum Mol Genet. 6: 1169-1175, 1997
  2. Bassett J.H.D., et al., Characterization of Mutations in Patients with Multiple Endocrine Neoplasia Type 1. Am J Hum Genet. 62: 232- 244, 1998
  3. Giraud, S. et al., Germ-Line Mutation Analysis in Patients with Multiple Endocrine Neoplasia Type 1 and Related Disorders. Am J Hum Genet. 63: 455-467, 1998
  4. Bergman, L. et al., Identification of MEN1 gene mutations in families with MEN1 and related disorders. Br J Cancer. 62:1009-1014, 2000
  5. Cavaco, BM. et al., Mutational analysis of Portuguese families with multiple endocrine neoplasia type 1 reveals large germline deletions. Clin Endocrinol. 56:465-473, 2002
  6. Klein, RD. et al. Clinical testing for multiple endocrine neoplasia type 1 in a DNA diagnostic laboratory. Genet Med. 7:131-138, 2005
  7. Warner, J. et al. Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications. J Med Genet. 41:155-160, 2004
  8. Villablanca, A. et al. Involvement of the MEN1 locus in familial isolated hyperparathyroidism. Eur J Endocrinol. 147: 313-322, 2002
  9. Pannett, AA. et al. Multiple endocrine neoplasia type 1 (MEN1) germline mutations in familial isolated primary hyperparathyroidism. Clin Endocrinol. 58:639-646, 2003.
TP53 Gene Sequencing & Del/Dup

Forms and Documents

Test Details

TP53
  • An individual with a personal history and family history of tumors associated with Li-Fraumeni syndrome (LFS), such as soft tissue sarcoma, osteosarcoma, brain tumors, breast cancer, adrenocortical carcinoma, etc., particularly if at least one is early-onset
  • An individual with multiple primary cancers within the LFS-tumor spectrum, particularly if at least one is early-onset
  • An individual with a personal history of a rare LFS-associated tumor, such as an adrenocortical carcinoma, choroid plexus carcinoma, rhabdomyosarcoma of embryonal anaplastic subtype, etc., regardless of age
  • An individual with breast cancer diagnosed at age 30 or younger
  • An unaffected individual with a family history suggestive of LFS (see above) when an affected individual is unavailable for his or her own genetic testing.
  • Capillary Sequencing
  • Deletion/Duplication Analysis

Ordering

718
3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swab | Fibroblasts (separate charge for cell culture may apply) | Oral Rinse

Billing

81405x1, 81479x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Birch et al., (1994) Cancer Res 54 :1298-1304.
  2. Bougeard et al., (2003) Oncogene 22:840-846.
  3. Eeles et al., (1995) Cancer Surv 25 :101-124.
  4. Ginsburg et al., (2009) Fam Cancer 8:563-567.
  5. Gonzalez et al., (2009) J Clin Oncol 27:1250-1256.
  6. Gonzalez et al., (2009) J Med Genet 46 :689-693.
  7. Li et al., (1988) Cancer Res 48:5358-5362.
  8. Tinat et al., (2009) J Clin Oncol 27(26):e108-e109.
  9. Varley et al., (2003) Hum Mutat 21:313-320.
BMPR1A, SMAD4 Gene Sequencing & Del/Dup

Forms and Documents

Test Details

BMPR1A, SMAD4
  • An individual with multiple Juvenile polyps of the colon and/or throughout the GI tract (Of note: the term juvenile refers to the histopathology of the polyp, not the age at presentation)
  • An individual with any number of juvenile polyps and a family history of Juvenile polyposis syndrome
  • An individual with any number of polyps (juvenile or pathology unspecified) in addition to a personal history suggestive of hereditary hemorrhagic telangiectasia (HHT)
  • An unaffected individual with a family history suggestive of Juvenile polyposis syndrome (see above) when an affected individual is unavailable for his or her own genetic testing
  • Capillary Sequencing
  • Deletion/Duplication Analysis

Ordering

717
3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swab | Fibroblasts (separate charge for cell culture may apply) | Oral Rinse

Billing

81405x1, 81406x1, 81479x1
No
Yes
  • 211.3 Colon Appendix Cecum Ileocecal valve Large intestine NOS Excludes: benign carcinoid tumors of the large intestine (209.50-209.56) rectosigmoid junction (211.4)
  • 448.0 Hereditary hemorrhagic telangiectasia Rendu-Osler-Weber disease
* For price inquiries please email zebras@genedx.com

References

  1. Aretz et al., (2007) J Med Genet 44:702-709.
  2. Gallione et al., (2010) Am J Med Genet Part A 152A:333-339.
  3. Aretz et al., (2007) J Med Genet 44:702-709.
  4. Van Hattem et al., (2008) Gut 57:623-627.
PRKAR1A Gene Sequencing & Del/Dup

Forms and Documents

Test Details

PRKAR1A
  • An individual with a personal and family history of skin pigment abnormalities and/or tumors associated with Carney Complex such as lentigines, myxoma, primary pigmented nodular adrenocortical disease (PPNAD), psammomatous melanotic schwannomas (PMS), large-cell calcifying Sertoli cell tumors (LCCSCT) and other tumors
  • An individual with multiple tumors associated with Carney Complex, particularly if at least one is early-onset
  • An individual with a personal history of a rare tumor associated with Carney Complex such as cardiac myxoma, PPNAD, PMS, and other tumors
  • An unaffected individual with a family history suggestive of Carney Complex (see above) when an affected individual is unavailable for his or her own genetic testing
  • Capillary Sequencing
  • Deletion/Duplication Analysis

Ordering

715
3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swab | Fibroblasts (separate charge for cell culture may apply) | Oral Rinse

Billing

81479x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Groussin et al., Molecular analysis of the cyclic AMP-dependent protein kinase A (PKA) regulatory subunit 1A (PRKAR1A) gene in patients with Carney complex and PPNAD reveals novel mutations and clue for pathophysiology: Augmented PKA signaling is associat
  2. Horvath et al. A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasia. Nat Genet. 2006; 38(7):794-800
  3. Horvath et al., Large deletions of the PRKAR1A gene in Carney Complex. Clin Cancer Res. 2008; 14(2):388
  4. Casey, Maired et al., Mutations in the protein kinase A R1alpha regulartory subunit cause familial cardiac myxomas and Carney complex J of Clin Invest 106: R31-R38 (2000)
  5. Kirschner, Lawrence S et al., Mutations of the gene encoding the protein kinase A type 1-alpha regulatory subunit in patients with Carney complex Nat Genet 26(1):89-92 (2000)
FLCN Gene Sequencing and Del/Dup

Forms and Documents

Test Details

FLCN
  • An individual with a personal and family history of tumors or other clinical features associated with Birt-Hogg-Dubé syndrome (BHD), such as oncocytic, chromophobe, or oncocytic hybrid renal tumors; benign skin papules (fibrofolliculomas, trichodiscomas/angiofibromas, perifollicular fibromas, acrocordons); multiple bilateral lung cysts; spontaneous pneumothorax.
  • An individual with multiple skin papules with at least one biopsy-proven fibrofolliculoma
  • An individual with bilateral or multi-focal oncocytic, chromophobe, or oncocytic hybrid renal tumors
  • An individual with a personal and family history of unexplained isolated primary spontaneous pneumothorax (PSP)
  • An unaffected individual with a family history suggestive of BHD (see above) when an affected individual is unavailable for his or her own genetic testing
  • Capillary Sequencing
  • Deletion/Duplication Analysis

Ordering

714
3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swab | Fibroblasts (separate charge for cell culture may apply) | Oral Rinse

Billing

No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Schmidt, L. et al., (2005) Am J Hum Genet. 76: 39-44.
  2. Painter, J. et al., (2005) Am J Hum Genet. 76: 522-27
  3. Graham, R. et al., (2005) Am J Respir Crit Care Med. 172: 39-44.
  4. Kunogi, M. et al., (2010) J Med Genet 47:281-287.
  5. Benhammou et al., (2011) Genes Chromosomes Cancer 50:466-477.
FH Gene Sequencing & Del/Dup

Forms and Documents

Test Details

FH
  • An individual with a personal history of features associated with autosomal dominant hereditary leiomyomatosis and renal cell cancer (HLRCC, also referred to as Reed syndrome), especially cutaneous leiomyomas (smooth muscle tumors of the skin), symptomatic and/or multiple uterine leiomyomas (fibroids) before age 40 years, and/or tubulo-papillary, collecting-duct, or papillary type II renal cell carcinoma
  • An individual with a personal and/or family history of features associated with autosomal recessive fumarate hydratase deficiency, such as excessive urinary excretion of fumurate, neonatal hypotonia, growth and developmental delay, seizures, structural brain malformations, severe neurologic impairment, dysmorphic facial features, and neonatal polycythemia
  • An unaffected individual with a family history suggestive of HLRCC (see above) when an affected individual is unavailable for his or her own genetic testing
  • Capillary Sequencing
  • Deletion/Duplication Analysis

Ordering

713
3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swab | Fibroblasts (separate charge for cell culture may apply) | Oral Rinse

Billing

81405x1, 81479x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Ricketts C et al. J Natl Cancer Inst 2008; 100:1260-126
  2. Wei M-H. et al., Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer. J Med Genet. 2006; 43:18-27
  3. Toro, J.R. et al., Mutations in the Fumarate Hydratase Gene Cause Hereditary Leiomyomatosis and Renal Cell Cancer in Families in North America. Am J Hum Genet. 2003; 73:95-106
  4. Alam, N.A. et al., Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis, renal cancer, and fumarate hydratase deficiency. Hum Mol Genet 2003; 12:1241-1252
  5. Ahvenainen et al. Cancer Genet Cyto 2008; 183:83-88
BLM Gene Sequencing

Forms and Documents

Test Details

BLM
  • Confirmation of a clinical diagnosis or positive cytogenetic testing for sister chromatid exchange (SCE)
  • Carrier testing in at-risk family members
  • Prenatal diagnosis for known mutations
  • Capillary Sequencing

Ordering

372
3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swab | Fibroblasts (separate charge for cell culture may apply) | Oral Rinse

Billing

81209x1, 81479x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Hickson, I et al., (2001) Biochem Soc Trans. 29:201-204.
  2. http://bioinf.uta.fi/BLMbase/
  3. Roa, B et al., (1999) Genet Test. 3(2): 219-221.
  4. German, J et al., (2007) Hum Mut. 28(8):743-753.
  5. Ellis, N et al., (1998) Am J Hum Genet. 63:1685-1693.
  6. Ellis, N et al., (1995) Cell. 83:655-666.
  7. Ellis, N et al., (1994) Am J Hum Genet. 55:453-460.
VHL Gene Sequencing & Del/Dup

Forms and Documents

Test Details

VHL
  • An individual with a personal history and family history of tumors or other clinical features associated with Von Hippel-Lindau (VHL), such as Hemangioblastomas of the spine, brain or retina; renal and/or pancreatic cysts; renal cell carcinoma; pheochromocytomas; pancreatic neuroendocrine tumors; epididymal cystadenomas; endolymphatic sac tumors.
  • An individual with early-onset renal cell carcinoma OR renal cancer at any age and a personal or family history of any other features associated with VHL
  • An individual with multiple hemangioblastomas of spine, brain, or retina OR a single hemangioblastoma and a personal or family history of other features associated with VHL
  • An individual with a pheochromocytoma, especially if young and/or bilateral.
  • An individual with a multiple renal and pancreatic cysts and a family history of other features associated with VHL
  • An unaffected individual with a family history suggestive of VHL (see above) when an affected individual is unavailable for his or her own genetic testing
  • Capillary Sequencing
  • Deletion/Duplication Analysis

Ordering

332
3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swab | Fibroblasts (separate charge for cell culture may apply) | Oral Rinse

Billing

81403x1, 81404x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. The Human Gene Mutation Database (HGMD), Institute of Medical Genetics in Cardiff, 2008. www.hgmd.cf.uk/ac/index.php
  2. Wong WT et al. Genotype-phenotype correlation in von Hippel-Lindau disease with retinal angiomatosis. Arch Ophthalmol 2007;125(2):239-45
  3. Shehata BM et al., Von Hippel-Lindau (VHL) disease: an update on the clinico-pathologic and genetic aspects. Adv Anat Pathol 2008;15(3):165-71
  4. Couch V et al. von Hippel-Lindau Disease. Review. Mayo Clin Proc 75:265-272, 2000
  5. Hoebeeck J et al. Rapid detection of VHL exon deletions using real-time quantitative PCR. Lab Invest 2005;85(1):24-33
  6. Stolle C et al., Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene. Hum Mutat 1998;12(6):417-23
  7. Bento M et al., Congenital polycythemia with homozygous and heterozygous mutations of von Hippel-Lindau gene: five new Caucasian patients. Haematologica 90:128-129, 2005
  8. Mannelli M et al. Genetics and biology of pheochromocytoma. Exp Clin Endocrinol Diabetes 2007;115(3):160-5
  9. Kaelin WG, Jr. Molecular basis of the VHL hereditary cancer syndrome. Nat Rev Cancer 2002;2(9):673-82
  10. Liu E et al., The worldwide distribution of the VHL 598C>T mutation indicates a single founding event. Blood 2004;103(5):1937-40
  11. Pastore Y et al., Mutations of von Hippel-Lindau Tumor-Suppressor Gene and Congenital Polycythemia. Am J Hum Genet 73:412-419, 2003
  12. Cario H et al., Mutations in the von Hippel-Lindau (VHL) tumor suppressor gene and VHL-haplotype analysis in patients with presumable congenital erythrocytosis. Haematologica 90(1): 19-24, 2005
  13. Maher ER et al., Phenotypic expression in von Hippel-Lindau Disease. J Med Genet 33:328-332, 1996
STK11 Gene Sequencing & Del/Dup

Forms and Documents

Test Details

STK11
  • An individual with two or more of the following features: 1. Two or more Peutz-Jeghers-type hamartomatous polyps of the small intestine. 2. Mucocutaneous hyperpigmentation of the mouth, lips, nose, eyes, genitalia, or fingers v. 3. Family history of PJS
  • An unaffected individual with a family history suggestive of PJS (see above) when an affected individual is unavailable for his or her own genetic testing.
  • Capillary Sequencing
  • MLPA

Ordering

2071
3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swab | Fibroblasts (separate charge for cell culture may apply) | Oral Rinse

Billing

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

References

  1. Aretz, S. et al., High Proportion on Large Genomic STK11 Deletions in Peutz-Jeghers Syndrome. Human Mutation 12: 513-519, 2005
  2. Chow, E. et al. An updated mutation spectrum in an Australian series of PJS patients provides further evidence for only one gene locus. Clin Genet. 70:409-414, 2006
  3. Mehenni, H. et al. Molecular and clinical characteristics in 46 families affected with Peutz-Jehgers syndrome. Dig Dis Sci. 52:1924-1933, 2007
PTCH1 Gene Sequencing & Del/Dup

Forms and Documents

Test Details

PTCH1
  • An individual presenting with numerous basal cell carcinomas (BCCs) (>5 in a lifetime) or a BCC before age 30 years.
  • An individual with fewer than 5 BCC but with other suggestive features of nevoid basal cell carcinoma syndrome (NBCCS) may also be appropriate for testing (see features below).
  • An individual presenting with one or more associated features of NBCCS, such as lamellar calcification of the falx before age 20 years, multiple palmar pits, jaw keratocyst, childhood medulloblastoma, ovarian and/or cardiac fibroma, vertebral/rib anomalies (e.g. bifid/splayed/extra ribs; bifid vertebrae), macrocephaly, among others.
  • An unaffected individual with a family history suggestive of NBCCS when the affected individual is unavailable for his or her own genetic testing.
  • Capillary Sequencing
  • Deletion/Duplication Analysis

Ordering

205
3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swab | Fibroblasts (separate charge for cell culture may apply) | Oral Rinse

Billing

81479x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Klein, R. et al., Clinical testing for the nevoid basal cell carcinoma syndrome in a DNA diagnostic laboratory. Genet Med. 7: 611-19, 2005
  2. Wicking, C. et al., Most Germ-Line Mutations in the Nevoid Basal Cell Carcinoma Syndrome Lead to a Premature Termination of the PATCHED Protein, and No Genotype-Phenotype Correlations Are Evident. Am J Hum Genet. 60: 21-26, 1997
  3. Lindström, E. et al., PTCH Mutations: Distribution and Analyses. Hum Mutat. 27: 215-19, 2006
  4. Benhamed S and Bale S. Gorlin Syndrome: A substantial proportion of previously “missing” mutations are large PTCH deletions. ASHG Abstract presented 2008.
PTEN Gene Sequencing and Del/Dup

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
RET Gene Sequencing

Forms and Documents

Test Details

RET
  • An individual with a personal history and family history of tumors and features associated with Multiple Endocrine Neoplasia type 2 (MEN2) such as medullary thyroid cancer, hyperparathyroidism, pheochromocytoma, Hirschsprung disease and cutaneous lichen amyloidosis
  • An individual with a personal and/ or family history of a medullary thyroid cancer
  • An individual with a personal history suggestive of MEN2B which may include features such as marfanoid habitus, mucosal neuromas of the lips and tongue and ganglioneuromas of the intestine
  • An individual with apparent non-syndromic Hirschsprung disease
  • An unaffected individual with a family history suggestive of MEN2 (see above) when an affected individual is unavailable for his or her own genetic testing
  • Capillary Sequencing

Ordering

1771
3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swab | Fibroblasts (separate charge for cell culture may apply) | Oral Rinse

Billing

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

References

  1. Mulligan, L.M. et al., Genotype-phenotype correlation in multiple endocrine neoplasia type 2: report of the International RET Mutation Consortium. J Intern Med. 238: 343-6, 1995.
  2. Elisei, R et al., RET genetic screening in patients with medullary thyroid cancer and their relatives: Experience with 807 individuals at one center. J Clin Endocrinol Metab 92(12)4725-4729, 2007.
  3. Heshmati HM, et al. Genetic testing in medullary thyroid carcinoma syndromes: mutation types and clinical significance. Mayo Clin Proc 72(5):430-436, 1997.
  4. Wiench M et al. Estimation of risk of inherited medullary thyroid carcinoma in apparent sporadic patients. J Clin Oncol 19(5):1374-1380, 2001.
  5. Shirahama S et al. Mutational analysis of the RET proto-oncogene in 71 Japanese patients with medullary thyroid carcinoma. J Hum Genet 43:101-106, 1998.
  6. Mulligan, L.M. et al., Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC. Nat Genet. 6: 70-4, 1994.
  7. Eng, C. et al., Point mutation within the tyrosine kinase domain of the RET-proto-oncogene in multiple endocrine neoplasia type 2B and related sporadic tumors. Hum Mol Genet. 3: 237-41, 1994.
  8. Gimm, O. et al., Germline dinucleotide mutation in codon 883 of the RET proto-oncogene in multiple endocrine neoplasia type 2B without codon 918 mutation. J Clin Endocrinol Metab. 82: 3902-4, 1997.
  9. Yip, L. et al., Multiple Endocrine Neoplasia Type 2: Evaluation of the Genotype-Phenotype Relationship. Arch Surg. 138: 409-16, 2003.
Pancreatic Cancer Panel

Forms and Documents

Test Details

APC, ATM, BRCA1, BRCA2, CDK4, CDKN2A, EPCAM, MLH1, MSH2, MSH6, PALB2, PMS2, STK11, TP53, VHL
  • Pancreatic cancer diagnosed at an early age
  • Multiple cancers in one person (such as pancreatic cancer and breast cancer)
  • Multiple relatives diagnosed with pancreatic cancer and/or related cancers (including breast, colon, melanoma etc.) on the
  • same side of the family and spanning multiple generations
  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering

B343
2 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swab | Fibroblasts (separate charge for cell culture may apply) | Oral Rinse

Billing

81162x1, 81201x1, 81404x1
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. Eckerle Mize D, Bishop M, Resse E, and Sluzevich J (2009). Familial Atypical Multiple Mole Melanoma Syndrome. In Riegert-Johnson DL, Boardman LA, Hefferon T, and Roberts M (Eds), Cancer Syndromes [Internet]. Bethesda (MD): NCBI.
  4. Frantzen C, Links TP, and Giles RH. Von Hippel-Lindau Disease. (2000 [updated 2012]). In Pagon RA, Adam MP, Bird TD, Dolan CR, Fong CT, and Stephens K (Eds), GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle.
  5. Grover S, Syngal S. Hereditary pancreatic cancer. Gastroenterol 2010 Oct;139(4):1076-80. (PMID 20727885)
  6. Lowenfels AB and Maisonneuve P. Epidemiology and risk factors for pancreatic cancer. Best Pract Res Clin Gastroenterol. 2006 Apr;20(2):197-209. (PMID 16549324)
  7. Lynch HT, Smyrk, Kern SE, et al. Familial pancreatic cancer: a review. Semin Oncol. 1996 Apr;23(2):251-75. (PMID 8623061)
  8. Brand RE, Lynch HT. Hereditary pancreatic adenocarcinoma. A clinical perspective. Med Clin North Am. 2000 May;84(3):665-75. (PMID 10872423)
  9. 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].
  10. Wimmer K and Kratz CP. Constitutional mismatch repair-deficiency syndrome. Haematologica. 2010 May; 95(5): 699–701. (PMID 20442441)
Pediatric Tumor Panel

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)
PGL/PCC (Paraganglioma/Pheochromocytoma) Panel

Forms and Documents

Test Details

FH, MAX, MEN1, NF1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL
  • A personal and/or family history of one or more paragangliomas or pheochromocytomas
  • A pattern of cancer in which individuals with similar or related cancers (see table below) are on one side of the family and spanning multiple generations
  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering

B395
3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swab | Fibroblasts (separate charge for cell culture may apply) | Oral Rinse

Billing

81403x1, 81404x3, 81405x2
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. American Thyroid et al. Medullary thyroid cancer: management guidelines of the American Thyroid Association. Thyroid. 2009 Jun;19(6):565-612.
  2. Bryant J et al. Pheochromocytoma: the expanding genetic differential diagnosis. J Natl Cancer Inst. 2003 Aug 20;95(16):1196-204. (PMID: 12928344)
  3. Coughlin EM et al. Molecular analysis and prenatal diagnosis of human fumarase deficiency. Mol Genet Metab. 1998 Apr;63(4):254-62.9635293 (PMID: 9635293)
  4. 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; 1993-2015. Available from: http://www.ncbi.nlm.nih.gov/books/
  5. Gellera C et al. Fumarase deficiency is an autosomal recessive encephalopathy affecting both the mitochondrial and the cytosolic enzymes. Neurology. 1990 Mar;40(3 Pt 1):495-9. 2314594 (PMID: 2314594)
  6. Kirmani S and Young WF. Hereditary Paraganglioma-Pheochromocytoma Syndromes. 2008 May 21 [Updated 2014 Nov 6]. In: Pagon RA, Bird TD, Dolan CR, et al., editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. Available from
  7. Lenders JW et al. Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline. The Journal Of Clinical Endocrinology And Metabolism. 2014 Jun;99(6):1915-42. (PMID: 24893135)
  8. Menko FH et al. Hereditary leiomyomatosis and renal cell cancer (HLRCC): renal cancer risk, surveillance and treatment. Fam Cancer. 2014 Dec;13(4):637-44. (PMID: 25012257)
  9. Mroch AR et al. Detection of a novel FH whole gene deletion in the propositus leading to subsequent prenatal diagnosis in a sibship with fumarase deficiency. Am J Med Genet A. 2012 Jan;158A(1):155-8. (PMID: 22069215)
  10. NCCN Guidelines. Thyroid Carcinoma. Version 2.2015 (URL: http://www.nccn.org/professionals/physician_gls/pdf/thyroid.pdf) November 2015 accessed.
  11. Thakker et al. Clinical Practice Guidelines for Multiple Endocrine Neoplasia Type 1 (MEN1). The Journal of Clinical Endocrinology and Metabolism. 2012;97(9):2990-3011. (PMID: 22723327)
Hereditary Prostate Cancer Panel

Forms and Documents

Test Details

ATM, BRCA1, BRCA2, BRIP1, CHEK2, EPCAM, HOXB13, MLH1, MSH2, MSH6, NBN, PALB2, PMS2, RAD51C, RAD51D, TP53
  • Prostate cancer diagnosed at an early age
  • Metastatic/aggressive prostate cancer
  • Multiple cancers in one person (such as prostate and pancreatic cancer)
  • Multiple relatives diagnosed with prostate cancer (especially aggressive; Gleason score ≥ 7) and/or related cancers (including breast, ovarian, pancreatic, colon, endometrial etc.) on the same side of the family and spanning multiple generations
  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering

J665
2 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swab | Fibroblasts (separate charge for cell culture may apply) | Oral Rinse

Billing

81162x1, 81405x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Carter BS et al. Mendelian inheritance of familial prostate cancer. Proc Natl Acad Sci U S A. 1992 Apr 15;89(8):3367-71. (PMID: 1565627)
  2. Cybulski C et al. An inherited NBN mutation is associated with poor prognosis prostate cancer. British Journal Of Cancer. 2013 Feb 5 108(2):461-8. (PMID: 23149842)
  3. 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)
  4. Huang H and Cai B. G84E mutation in HOXB13 is firmly associated with prostate cancer risk: a meta-analysis. Tumour Biology : The Journal Of The International Society For Oncodevelopmental Biology And Medicine. 2014 Feb 35(2):1177-82. (PMID: 24026887)
  5. Hwang SJ et al. Germline p53 mutations in a cohort with childhood sarcoma: sex differences in cancer risk. American Journal Of Human Genetics. 2003 72(4):975-83. (PMID: 12610779)
  6. Lowenfels AB and Maisonneuve P. Epidemiology and risk factors for pancreatic cancer. Best Pract Res Clin Gastroenterol. 2006 Apr;20(2):197-209. (PMID: 16549324)
  7. Pritchard CC et al. Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer. The New England Journal Of Medicine. 2016 Jul 6. (PMID: 27433846)
  8. Ryan S et al. Risk of prostate cancer in Lynch syndrome: a systematic review and meta-analysis. Cancer Epidemiology, Biomarkers & Prevention: A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive
  9. Thompson D, Easton DF, and the Breast Cancer Linkage Consortium. Cancer Incidence in BRCA1 mutation carriers. J Natl Cancer Inst. 2002 Sep;94(18):1358-65. (PMID: 12237281)
  10. Surveillance, Epidemiology, and End Results (SEER) Program of the National Cancer Institute. SEER Cancer Statistics Review, 1975-2012: Lifetime Risk Tables (URL: http://surveillance.cancer.gov/devcan) [October 2016 accessed].
  11. Wimmer K and Kratz CP. Constitutional mismatch repair-deficiency syndrome. Haematologica. 2010 May; 95(5): 699–701. (PMID: 20442441)
Renal Cancer Panel

Forms and Documents

Test Details

BAP1, EPCAM, FH, FLCN, MET, MITF, MLH1, MSH2, MSH6, PMS2, PTEN, SDHB, SDHC, SDHD, TP53, TSC1, TSC2, VHL
  • A personal or family history of renal cancer at a young age (i.e. ≤46 years)
  • A personal or family history of bilateral renal cancer (disease in both kidneys) or multiple primary tumors in a single kidney
  • Multiple renal cancers within a family
  • A pattern of cancer in which the individuals with similar or related cancers (see table below) are on one side of the family spanning multiple generations
  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering

B394
3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swab | Fibroblasts (separate charge for cell culture may apply) | Oral Rinse

Billing

81403x1, 81404x1, 81405x1, 81406x1, 81407x1
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. Coleman JA and Russo P. Hereditary and familial kidney cancer. Current Opinion In Urology. 2009 Sep 19(5):478-85. (PMID: 19584731)
  3. 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)
  4. Kirmani S and Young WF. Hereditary Paraganglioma-Pheochromocytoma Syndromes. 2008 May 21 [Updated 2014 Nov 6]. In: Pagon RA, Bird TD, Dolan CR, et al., editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. Available from
  5. 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)
  6. Lenders JW et al. Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline. The Journal Of Clinical Endocrinology And Metabolism. 2014 Jun;99(6):1915-42.(PMID: 24893135)
  7. Menko FH et al. Birt-Hogg-Dubé syndrome: diagnosis and management. Lancet Oncol. 2009 Dec;10(12):1199-206. (PMID: 19959076)
  8. Menko FH et al. Hereditary leiomyomatosis and renal cell cancer (HLRCC): renal cancer risk, surveillance and treatment. Fam Cancer. 2014 Dec;13(4):637-44. (PMID: 25012257)
  9. NCCN Guidelines. Genetic/Familial High-Risk Assessment: Breast and Ovarian. (URL: http://www.nccn.org/professionals/physician_gls/f_guidelines.asp) [May 2013 accessed]
  10. NCCN Guidelines. Genetic/Familial High-Risk Assessment: Colorectal. (URL: http://www.nccn.org/professionals/physician_gls/f_guidelines.asp) [May 2014 accessed]
  11. Rini BI et al. Renal cell carcinoma. Current Opinion In Oncology. 2006 May 18(3):289-96 (PMID: 16552243)
  12. 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]
  13. Wimmer K and Kratz CP. Constitutional mismatch repair-deficiency syndrome. Haematologica. 2010 May; 95(5): 699–701. (PMID 20442441)
Melanoma Panel

Forms and Documents

Test Details

BAP1, BRCA2, CDK4, CDKN2A, MITF, POT1, PTEN, RB1, TP53
  • Identification of a hereditary susceptibility to malignant melanoma
  • Development of a clinical surveillance plan for early detection
  • Identification of at-risk family members
  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering

B399
2 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swab | Fibroblasts (separate charge for cell culture may apply) | Oral Rinse

Billing

81216x1, 81321x1, 81323x1, 81405x1 to 81404x1, 81479x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Begg CB et al. Lifetime risk of melanoma in CDKN2A mutation carriers in a population-based sample. J Natl Cancer Inst. 2005 Oct 19;97(20):1507-15. (PMID: 16234564)
  2. Bishop DT et al. Geographical variation in the penetrance of CDKN2A mutations for melanoma. J Natl Cancer Inst. 2002 Jun 19;94(12):894-903. (PMID: 12072543)
  3. 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)
  4. de Snoo FA et al. Increased risk of cancer other than melanoma in CDKN2A founder mutation (p16-Leiden)-positive melanoma families. Clin Cancer Res. 2008 Nov 1;14(21):7151-7. (PMID: 18981015)
  5. Gabree M et al. Clinical applications of melanoma genetics. Curr Treat Options Oncol. 2014 Jun;15(2):336-50. (PMID: 24652319)
  6. Goldstein AM et al. Familial melanoma, pancreatic cancer and germline CDKN2A mutations. Hum Mutat. 2004 Jun;23(6):630. (PMID: 15146471)
  7. Goldstein AM et al. Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents. J Med Genet. 2007 Feb;44(2):99-106. (PMID: 16905682)
  8. Hayward NK et al. Genetics of melanoma predisposition. Oncogene. 2003 May 19;22(20):3053-62. (PMID: 12789280)
  9. Mistry SH et al. Prevalence of 9p21 deletions in UK melanoma families. Genes Chromosomes Cancer. 2005 Nov;44(3):292-300. (PMID: 16032697)
  10. National Cancer Institute. Melanoma. (URL: http://www.cancer.gov/cancertopics/pdq/genetics/skin/HealthProfessional/page4#Section_397) [November 2014 accessed]
  11. Puntervoll HE et al. Melanoma prone families with CDK4 germline mutation: phenotypic profile and associations with MC1R variants. J Med Genet. 2013 Apr;50(4):264-70. (PMID: 23384855)
  12. Randerson-Moor JA et al. A germline deletion of p14(ARF) but not CDKN2A in a melanoma-neural system tumour syndrome family. Hum Mol Genet. 2001 Jan 1;10(1):55-62. (PMID: 11136714)
  13. Royal College of Physicians and British Association of Dermatologists. The prevention, diagnosis, referral and management of melanoma of the skin; concise guidelines. Concise guidance to good practice series, No 7. London: RCP, 2007 (URL: https://www.rcpl
  14. Rulyal SJ et al. Characterization of the neoplastic phenotype in the familial atypical multiple-mole melanoma-pancreatic carcinoma syndrome. Cancer. 2003 Aug 15;98(4):798-804. (PMID: 12910525)
  15. Sekulic A et al. Malignant melanoma in the 21st century: the emerging molecular landscape. Mayo Clin Proc. 2008 Jul;83(7):825-46. (PMID: 18613999)
  16. 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) [October 2014 accessed].
  17. van der Ree J et al. Clinical and histologic characteristics of malignant melanoma in families with a germline mutation in CDKN2A. J Am Acad Dermatol. 2011 Aug;65(2):281-8. (PMID: 21570156)
  18. Vasen HF et al. Risk of developing pancreatic cancer in families with familial atypical multiple mole melanoma associated with a specific 19 deletion of p16 (p16- Leiden). Int J Cancer. 2000 Sep 15;87(6):809-11. (PMID: 10956390)

New Billing Policy - Please contact your local genetic testing specialist for information on our updated reflex testing options

Over the past ten years, research has identified many genes associated with hereditary cancers. Some of these genes play a role in more than one type of cancer, and in most types of cancer several genes can cause the cancer. GeneDx has developed comprehensive panels to facilitate testing of all the important genes associated with inherited cancer, in a manner that provides rapid and accurate results and at typically no additional cost as compared to testing for a single gene. For a chart comparing the genes available on our panels, and the tumor and cancer risks associated with the various genes included within, please see the resources tab on this page

Custom Panel

OncoGeneDx Custom Panel

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

New Billing Policy - Please contact your local genetic testing specialist for information on our updated reflex testing options

Over the past ten years, research has identified many genes associated with hereditary cancers. Some of these genes play a role in more than one type of cancer, and in most types of cancer several genes can cause the cancer. GeneDx has developed comprehensive panels to facilitate testing of all the important genes associated with inherited cancer, in a manner that provides rapid and accurate results and at typically no additional cost as compared to testing for a single gene. For a chart comparing the genes available on our panels, and the tumor and cancer risks associated with the various genes included within, please see the resources tab on this page

Hereditary Cancer Variant Testing Program (VTP)

Laboratories classify genetic changes as variants of uncertain significance (VUS) if there is incomplete or conflicting information about the health consequences of the variant. In some cases, testing family members for the presence or absence of the VUS may contribute to a better understanding of the variant and may be one piece of evidence leading to eventual reclassification of a VUS as either a positive or negative result.

We accept applications to the Hereditary Cancer Variant Testing Program for any individual found to have a VUS through hereditary cancer gene testing at our laboratory. There is no charge for variant testing for approved family members. GeneDx will make the final determinations for VTP in its sole discretion.

Application Process for the Hereditary Cancer VTP:

  • Fax a detailed pedigree to our cancer genetic counselors at 201-421-2314 or send the information by email to genedx@genedx.com. Please place a note on the fax indicating that you are submitting the pedigree for VTP consideration.
  • Our VTP team will review the case and will determine if there are informative family members appropriate for evaluation through the VTP. Cases are typically reviewed within 3 weeks of receipt.
  • A member of our VTP team will contact the ordering provider or genetic counselor after the case has been reviewed to let him/her know if any family members have been approved for acceptance into the VTP. If we are extending an offer for family member variant testing, we will discuss logistics of sample submission at this time.

Note that testing through the VTP only includes testing for the familial VUS. More thorough cancer gene testing (as was performed in the original patient) is not provided through the VTP.

Reasons why a family might not be accepted into the Hereditary Cancer VTP:

  • The VUS is in a gene that does not correspond to the cancer history in the family.
  • The VUS is present in the mosaic state.
  • There are no informative living family members (i.e., all of the relatives with relevant cancer diagnoses are deceased).
  • In some cases, we may learn more, and the family may be better served, by clinical genetic testing in an affected family member rather than testing the submitted family member only for the VUS.
  • Variant studies of low or moderate penetrance cancer risk genes (like CHEK2 or BRIP1 for example) may be more challenging than studies of high penetrance genes (such as BRCA1 or BRCA2); for this reason, we may be less likely to approve variant studies for families with low to moderate risk gene variants.

Re-classification of variants of uncertain significance takes a great deal of data and information from multiple sources.  Therefore, there is no guarantee that participation in the Variant Testing Program will lead to reclassification of a VUS.

For more information please contact:
The GeneDx Hereditary Cancer Genetic Counselors at 888-729-1206