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  • Test code: 01261
  • Turnaround time:
    10–21 calendar days (14 days on average)
  • Preferred specimen:
    3mL whole blood in a purple-top tube
  • Alternate specimens:
    DNA or saliva/assisted saliva
  • Sample requirements
  • Request a sample kit
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Invitae Pancreatic Cancer Panel

Test description

The Invitae Pancreatic Cancer Panel analyzes genes that are associated with a hereditary predisposition for pancreatic cancer. These genes were selected based on the available evidence to date to provide Invitae’s broadest test for hereditary pancreatic cancer.

Genetic testing of these genes may confirm a diagnosis and help guide treatment and management decisions. Identification of a disease-causing variant would also guide testing and diagnosis of at-risk relatives. This test is specifically designed for heritable germline mutations and is not appropriate for the detection of somatic mutations in tumor tissue.

CFTR: Analysis includes the polymorphic TG/T tract within intron 10 as well as known promoter, 5’ UTR, 3’UTR, and intronic HGMD variants (including, but not limited to, c.3718-2477C>T, also known as 3849+10kbC>T and c.3717+12191C>T in the literature). Variants in these regions will be interpreted and only reported if classified as likely pathogenic or pathogenic. Polymorphisms and uncertain variants will be reported upon request.

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Primary panel (20 genes)

APC ATM BMPR1A BRCA1 BRCA2 CDKN2A EPCAM MEN1 MLH1 MSH2 MSH6 NF1 PALB2 PMS2 SMAD4 STK11 TP53 TSC1 TSC2 VHL

Add-on Preliminary-evidence Genes for Pancreatic Cancer (3 genes)

Preliminary-evidence genes currently have early evidence of a clinical association with the specific disease covered by this test. Some clinicians may wish to include genes which do not currently have a definitive clinical association, but which may prove to be clinically significant in the future. These genes can be added at no additional charge. Visit our Preliminary-evidence genes page to learn more.

CDK4 FANCC PALLD

Add-on Chronic Pancreatitis Genes (6 genes)

Chronic pancreatitis has been reported as a risk factor for pancreatic cancer. Depending on the clinical presentation of the patient, clinicians may wish to broaden analysis by including genes that are associated with hereditary pancreatitis. These genes can be added at no additional charge.

CASR CFTR CPA1 CTRC PRSS1 SPINK1

Alternative tests to consider

These genes can also be ordered as part of broader, cross-cancer, multi-gene panels. Depending on an individual’s clinical and family history, one of these panels may be appropriate and can be ordered at no additional charge.

  • familial adenomatous polyposis (FAP)
    • attenuated familial adenomatous polyposis (AFAP)
  • hereditary breast and ovarian cancer syndrome (HBOC)
  • juvenile polyposis syndrome (JPS)
  • Li-Fraumeni syndrome (LFS)
  • Lynch syndrome – also known as hereditary non-polyposis colorectal cancer (HNPCC)
  • melanoma-pancreatic cancer syndrome (M-PCS)
  • multiple endocrine neoplasia type 1 (MEN1)
  • neurofibromatosis type 1 (NF1)
  • pancreatic adenocarcinoma
  • pancreatic endocrine tumor
  • Peutz-Jeghers syndrome (PJS)
  • tuberous sclerosis complex (TSC)
  • von Hippel-Lindau syndrome (VHL)

Pancreatic cancer is the fourth-leading cause of cancer-related deaths in the United States. Most occur sporadically and are not inherited; however, approximately 5%-10% of pancreatic cancer is hereditary and due to a pathogenic variant in a disease-causing gene.

There are two main types of pancreatic cancer: cancer of the exocrine pancreas and pancreatic neuroendocrine tumors. Cancer of the exocrine pancreas is often referred to as pancreatic adenocarcinoma and accounts for 95% of pancreatic tumors. Pancreatic neuroendocrine tumors (PanNET), also called pancreatic islet cell tumors, originate from endocrine cells and account for less than 5% of all pancreatic tumors. It is important to note that PanNETs are not the same as pancreatic adenocarcinomas (the much more common type of pancreatic cancer). PanNETs differ in their pathology, prognosis, and medical management.

This panel analyzes the genes most commonly associated with an increased risk for pancreatic cancer—both endocrine and exocrine. Some of these genes are also associated with additional clinical features and an increased risk of developing other cancer types, including melanoma, breast, ovarian and colon, among others.

Individuals with a pathogenic variant in one of these genes have an increased risk of malignancy compared to the average person, but not everyone with such a variant will actually develop cancer. Further, the same variant can present differently, even among family members. Because we cannot predict which cancers may develop, additional medical management strategies focused on cancer prevention and early detection may be beneficial.

For gene-associated cancer risks, download our Cancer risk poster.

All of the genes on this panel have autosomal dominant inheritance for hereditary pancreatic cancer. Several of these genes also result in clinically distinct autosomal recessive conditions:

  • BRCA2 and PALB2 are associated with Fanconi anemia.
  • MLH1, MSH2, MSH6 and PMS2 are associated with constitutional mismatch repair deficiency (CMMR-D).
  • ATM is associated with ataxia-telangiectasia.
  • VHL is associated with familial erythrocytosis type 2.

Multi-gene analysis for pancreatic cancer may be considered in individuals with the following:

  • a personal history of pancreatic cancer, especially if diagnosed at an unusually young age
  • more than one primary diagnosis of cancer in an individual with pancreatic cancer (e.g., pancreatic and colon cancer, pancreatic cancer and melanoma)
  • two or more family members on the same side of the family with pancreatic cancer
  • three or more family members with pancreatic and at least one other type of cancer

The American College of Medical Genetics has published guidelines on when to consider testing for hereditary pancreatic cancer syndromes:

  • Hampel, H, et al. A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. Genet. Med. 2015; 17(1):70-87. PMID: 25394175.

There are also some common general features suggestive of a family with hereditary cancer syndrome. These include:

  • cancer diagnosed at an unusually young age
  • different types of cancer that have occurred independently in the same person
  • cancer that has developed in both organs of a set of paired organs (e.g., both kidneys, both breasts)
  • several close blood relatives that have the same type of cancer
  • unusual cases of a specific cancer type (e.g., male breast cancer)

  1. Perren, A, et al. Pancreatic endocrine tumors are a rare manifestation of the neurofibromatosis type 1 phenotype: molecular analysis of a malignant insulinoma in a NF-1 patient. Am. J. Surg. Pathol. 2006; 30(8):1047-51. doi: 10.1097/00000478-200608000-00018. PMID: 16861979
  2. Pollock, J, Welsh, JS. Clinical cancer genetics: Part I: Gastrointestinal. Am. J. Clin. Oncol. 2011; 34(3):332-6. doi: 10.1097/COC.0b013e3181dea432. PMID: 20859198
  3. Cassol, C, Mete, O. Endocrine manifestations of von Hippel-Lindau disease. Arch. Pathol. Lab. Med. 2015; 139(2):263-8. doi: 10.5858/arpa.2013-0520-RS. PMID: 25611110
  4. Giardiello, FM, et al. Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi-society Task Force on colorectal cancer. Am. J. Gastroenterol. 2014; 109(8):1159-79. doi: 10.1038/ajg.2014.186. PMID: 25070057
  5. Hearle, N, et al. Frequency and spectrum of cancers in the Peutz-Jeghers syndrome. Clin. Cancer Res. 2006; 12(10):3209-15. PMID: 16707622
  6. Iqbal, J, et al. The incidence of pancreatic cancer in BRCA1 and BRCA2 mutation carriers. Br. J. Cancer. 2012; 107(12):2005-9. doi: 10.1038/bjc.2012.483. PMID: 23099806
  7. Bombardieri, R, et al. Pancreatic neuroendocrine tumor in a child with a tuberous sclerosis complex 2 (TSC2) mutation. Endocr Pract. 2013; 19(5):e124-8. PMID: 23757617
  8. Koc, G, et al. Pancreatic tumors in children and young adults with tuberous sclerosis complex. Pediatr Radiol. 2017; 47(1):39-45. PMID: 27639993
  9. Larson, AM, et al. Pancreatic neuroendocrine tumors in patients with tuberous sclerosis complex. Clin. Genet. 2012; 82(6):558-63. PMID: 22035404
  10. Lim, W, et al. Further observations on LKB1/STK11 status and cancer risk in Peutz-Jeghers syndrome. Br. J. Cancer. 2003; 89(2):308-13. PMID: 12865922
  11. Sargen, MR, et al. CDKN2A mutations with p14 loss predisposing to multiple nerve sheath tumours, melanoma, dysplastic naevi and internal malignancies: a case series and review of the literature. Br. J. Dermatol. 2016; 175(4):785-9. PMID: 26876133
  12. Bahuau, M, et al. Germ-line deletion involving the INK4 locus in familial proneness to melanoma and nervous system tumors. Cancer Res. 1998; 58(11):2298-303. PMID: 9622062
  13. Groen, EJ, et al. Extra-intestinal manifestations of familial adenomatous polyposis. Ann. Surg. Oncol. 2008; 15(9):2439-50. doi: 10.1245/s10434-008-9981-3. PMID: 18612695
  14. 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; 62(3):339-47. doi: 10.1136/gutjnl-2012-303108. PMID: 23135763
  15. Lindor, NM, et al. Concise handbook of familial cancer susceptibility syndromes - second edition. J. Natl. Cancer Inst. Monographs. 2008; :1-93. PMID: 18559331
  16. Soura, E, et al. Hereditary melanoma: Update on syndromes and management: Genetics of familial atypical multiple mole melanoma syndrome. J. Am. Acad. Dermatol. 2016; 74(3):395-407; quiz 408-10. PMID: 26892650
  17. Goldstein, AM, et al. CDKN2A mutations and melanoma risk in the Icelandic population. J. Med. Genet. 2008; 45(5):284-9. PMID: 18178632
  18. Kim, JJ, et al. Von Hippel Lindau syndrome. Adv. Exp. Med. Biol. 2010; 685:228-49. PMID: 20687511
  19. Korsse, SE, et al. Pancreatic cancer risk in Peutz-Jeghers syndrome patients: a large cohort study and implications for surveillance. J. Med. Genet. 2013; 50(1):59-64. PMID: 23240097
  20. van, Asperen, CJ, et al. Cancer risks in BRCA2 families: estimates for sites other than breast and ovary. J. Med. Genet. 2005; 42(9):711-9. PMID: 16141007
  21. Tischkowitz, MD, et al. Analysis of the gene coding for the BRCA2-interacting protein PALB2 in familial and sporadic pancreatic cancer. Gastroenterology. 2009; 137(3):1183-6. PMID: 19635604
  22. Raimondi, S, et al. Pancreatic cancer in chronic pancreatitis; aetiology, incidence, and early detection. Best Pract Res Clin Gastroenterol. 2010; 24(3):349-58. PMID: 20510834
  23. Becker, AE, et al. Pancreatic ductal adenocarcinoma: risk factors, screening, and early detection. World J. Gastroenterol. 2014; 20(32):11182-98. PMID: 25170203
  24. Ghiorzo, P. Genetic predisposition to pancreatic cancer. World J. Gastroenterol. 2014; 20(31):10778-89. PMID: 25152581
  25. Hruban, RH, et al. Update on familial pancreatic cancer. Adv Surg. 2010; 44:293-311. PMID: 20919528
  26. Kastrinos, F, et al. Risk of pancreatic cancer in families with Lynch syndrome. JAMA. 2009; 302(16):1790-5. doi: 10.1001/jama.2009.1529. PMID: 19861671
  27. Dudley, B, et al. Germline mutation prevalence in individuals with pancreatic cancer and a history of previous malignancy. Cancer. 2018; 124(8):1691-1700. PMID: 29360161
  28. Jones, S, et al. Exomic sequencing identifies PALB2 as a pancreatic cancer susceptibility gene. Science. 2009; 324(5924):217. doi: 10.1126/science.1171202. PMID: 19264984
  29. Roberts, NJ, et al. ATM mutations in patients with hereditary pancreatic cancer. Cancer Discov. 2012; 2(1):41-6. doi: 10.1158/2159-8290.CD-11-0194. PMID: 22585167
  30. Giardiello, FM, et al. Increased risk of thyroid and pancreatic carcinoma in familial adenomatous polyposis. Gut. 1993; 34(10):1394-6. doi: 10.1136/gut.34.10.1394. PMID: 8244108
  31. Hampel, H, et al. A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. Genet. Med. 2015; 17(1):70-87. doi: 10.1038/gim.2014.147. PMID: 25394175
  32. Pfützer, RH, et al. SPINK1/PSTI polymorphisms act as disease modifiers in familial and idiopathic chronic pancreatitis. Gastroenterology. 2000; 119(3):615-23. doi: 10.1053/gast.2000.18017. PMID: 10982753
  33. Howe, JR, et al. The risk of gastrointestinal carcinoma in familial juvenile polyposis. Ann. Surg. Oncol. 1998; 5(8):751-6. doi: 10.1007/bf02303487. PMID: 9869523
  34. Rebours, V, et al. The natural history of hereditary pancreatitis: a national series. Gut. 2009; 58(1):97-103. doi: 10.1136/gut.2008.149179. PMID: 18755888
  35. Agaimy, A, et al. Gastrointestinal manifestations of neurofibromatosis type 1 (Recklinghausen's disease): clinicopathological spectrum with pathogenetic considerations. Int J Clin Exp Pathol. 2012; 5(9):852-62. PMID: 23119102
  36. 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; 30(9):958-64. PMID: 22331944
  37. Kempers, MJ, et al. Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study. Lancet Oncol. 2011; 12(1):49-55. doi: 10.1016/S1470-2045(10)70265-5. PMID: 21145788
  38. Thakker, RV. Multiple endocrine neoplasia type 1 (MEN1) and type 4 (MEN4). Mol. Cell. Endocrinol. 2014; 386(1-2):2-15. doi: 10.1016/j.mce.2013.08.002. PMID: 23933118
  39. Slater, EP, et al. PALB2 mutations in European familial pancreatic cancer families. Clin. Genet. 2010; 78(5):490-4. doi: 10.1111/j.1399-0004.2010.01425.x. PMID: 20412113
  40. Syngal, S, et al. ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. Am. J. Gastroenterol. 2015; 110(2):223-62; quiz 263. doi: 10.1038/ajg.2014.435. PMID: 25645574
  41. McWilliams, RR, et al. Prevalence of CDKN2A mutations in pancreatic cancer patients: implications for genetic counseling. Eur. J. Hum. Genet. 2011; 19(4):472-8. PMID: 21150883
  42. Moran, A, et al. Risk of cancer other than breast or ovarian in individuals with BRCA1 and BRCA2 mutations. Fam. Cancer. 2012; 11(2):235-42. PMID: 22187320
  43. Stadler, ZK, et al. Prevalence of BRCA1 and BRCA2 mutations in Ashkenazi Jewish families with breast and pancreatic cancer. Cancer. 2012; 118(2):493-9. doi: 10.1002/cncr.26191. PMID: 21598239
  44. Solomon, S, et al. PRSS1-Related Hereditary Pancreatitis. 2012 Mar 01. In: Pagon, RA, et al, editors. GeneReviews(®) (Internet). University of Washington, Seattle. PMID: 22379635
  45. 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; 87(6):809-11. doi: 10.1016/s0016-5085(00)84701-0. PMID: 10956390
  46. Walpole, IR, Cullity, G. Juvenile polyposis: a case with early presentation and death attributable to adenocarcinoma of the pancreas. Am. J. Med. Genet. 1989; 32(1):1-8. doi: 10.1002/ajmg.1320320102. PMID: 2705469
  47. Curatolo, P, et al. Tuberous sclerosis. Lancet. 2008; 372(9639):657-68. doi: 10.1016/S0140-6736(08)61279-9. PMID: 18722871
  48. Leoz, ML, et al. The genetic basis of familial adenomatous polyposis and its implications for clinical practice and risk management. Appl Clin Genet. 2015; 8:95-107. doi: 10.2147/TACG.S51484. PMID: 25931827
  49. Ruijs, MW, et al. TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes. J. Med. Genet. 2010; 47(6):421-8. PMID: 20522432
  50. Hu, C, et al. Prevalence of pathogenic mutations in cancer predisposition genes among pancreatic cancer patients. Cancer Epidemiol. Biomarkers Prev. 2015; :None. PMID: 26483394
  51. Schneider, K, et al. Li-Fraumeni Syndrome. 1999 Jan 19. In: Pagon, RA, et al, editors. GeneReviews (Internet). University of Washington, Seattle. PMID: 20301488
  52. Larsen, Haidle, J, Howe, JR. Juvenile Polyposis Syndrome. 2003 May 13. In: Pagon, RA, et al, editors. GeneReviews (Internet). University of Washington, Seattle; Available from: http://www.ncbi.nlm.nih.gov/books/NBK1469/ PMID: 20301642
  53. LaRusch, J, et al. Pancreatitis Overview. 2014 Mar 13. In: Pagon, RA, et al, editors. GeneReviews (Internet). University of Washington, Seattle; Available from: http://www.ncbi.nlm.nih.gov/books/NBK190101/ PMID: 24624459
  54. Lodish, MB, Stratakis, CA. Endocrine tumours in neurofibromatosis type 1, tuberous sclerosis and related syndromes. Best Pract. Res. Clin. Endocrinol. Metab. 2010; 24(3):439-49. doi: 10.1016/j.beem.2010.02.002. PMID: 20833335
  55. Friedman, JM. Neurofibromatosis 1. 1998 Oct 02. In: Pagon, RA, et al, editors. GeneReviews (Internet). University of Washington, Seattle; Available from: http://www.ncbi.nlm.nih.gov/books/NBK1109/ PMID: 20301288
  56. Seminog, OO, Goldacre, MJ. Risk of benign tumours of nervous system, and of malignant neoplasms, in people with neurofibromatosis: population-based record-linkage study. Br. J. Cancer. 2013; 108(1):193-8. PMID: 23257896
  57. National Cancer Institute, Pancreatic Neuroendocrine Tumors (Islet Cell Tumors) Treatment. Accessed September 2019.
  58. American Society of Clinical Oncology, Cancer.net: Pancreatic Cancer, http://www.cancer.net/cancer-types/pancreatic-cancer, Accessed September 2019.
  59. Thompson, D, et al. Cancer Incidence in BRCA1 mutation carriers. J. Natl. Cancer Inst. 2002; 94(18):1358-65. doi: 10.1093/jnci/94.18.1358. PMID: 12237281
  60. Giusti, F, et al. Multiple Endocrine Neoplasia Type 1. 2005 Aug 31. In: Pagon, RA, et al, editors. GeneReviews (Internet). University of Washington, Seattle; Available from: http://www.ncbi.nlm.nih.gov/books/NBK1538/ PMID: 20301710
  61. van, Lier, MG, et al. High cancer risk in Peutz-Jeghers syndrome: a systematic review and surveillance recommendations. Am. J. Gastroenterol. 2010; 105(6):1258-64; author reply 1265. PMID: 20051941
  62. Maher, ER, et al. von Hippel-Lindau disease: a clinical and scientific review. Eur. J. Hum. Genet. 2011; 19(6):617-23. doi: 10.1038/ejhg.2010.175. PMID: 21386872
  63. van Leeuwaarde RS, et al. Von Hippel-Lindau Syndrome. 2000 May 17. In: Pagon, RA, et al, editors. GeneReviews (Internet). University of Washington, Seattle; Available from: http://www.ncbi.nlm.nih.gov/books/NBK1463/ PMID: 20301636
  64. Breast, Cancer, Linkage, Consortium. Cancer risks in BRCA2 mutation carriers. J. Natl. Cancer Inst. 1999; 91(15):1310-6. doi: 10.1093/jnci/91.15.1310. PMID: 10433620
  65. Eng, C. PTEN Hamartoma Tumor Syndrome (PHTS). 2001 Nov 29. In: Pagon, RA, et al, editors. GeneReviews (Internet). University of Washington, Seattle; Available from: http://www.ncbi.nlm.nih.gov/books/NBK1488/ PMID: 20301661
  66. McGarrity, TJ, et al. Peutz-Jeghers Syndrome. 2001 Feb 23. In: Pagon, RA, et al, editors. GeneReviews (Internet). University of Washington, Seattle; Available from: http://www.ncbi.nlm.nih.gov/books/NBK1266/ PMID: 20301443
  67. Petrucelli, N, et al. BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer. 1998 Sep 04. In: Pagon, RA, et al, editors. GeneReviews (Internet). University of Washington, Seattle; Available from: http://www.ncbi.nlm.nih.gov/books/NBK1247/ PMID: 20301425
  68. Antoniou, AC, et al. Breast-cancer risk in families with mutations in PALB2. N. Engl. J. Med. 2014; 371(6):497-506. doi: 10.1056/NEJMoa1400382. PMID: 25099575
  69. Northrup, H, et al. Tuberous Sclerosis Complex. 1999 Jul 13. In: Pagon, RA, et al, editors. GeneReviews (Internet). University of Washington, Seattle; Available from: http://www.ncbi.nlm.nih.gov/books/NBK1220/ PMID: 20301399
  70. LaRusch, J, Whitcomb, DC. Genetics of pancreatitis. Curr. Opin. Gastroenterol. 2011; 27(5):467-74. doi: 10.1097/MOG.0b013e328349e2f8. PMID: 21844754
  71. Kohlmann, W, Gruber, SB. Lynch Syndrome. 2004 Feb 05. In: Pagon, RA, et al, editors. GeneReviews (Internet). University of Washington, Seattle; Available from: http://www.ncbi.nlm.nih.gov/books/NBK1211/ PMID: 20301390
  72. National Library of Medicine, Genetics Home Reference: Von Hippel-Lindau Syndrome. http://ghr.nlm.nih.gov/condition/von-hippel-lindau-syndrome Accessed September 2019.
  73. American Society of Clinical Oncology, Cancer.Net: Von Hippel-Lindau Syndrome. http://www.cancer.net/cancer-types/von-hippel-lindau-syndrome Accessed September 2019.
  74. American Society of Clinical Oncology, Cancer.Net: Juvenile Polyposis Syndrome. http://www.cancer.net/cancer-types/juvenile-polyposis-syndrome Accessed September 2019.

Assay and technical information

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

Our sequence analysis covers clinically important regions of each gene, including coding exons and 10 to 20 base pairs of adjacent intronic sequence on either side of the coding exons in the transcript listed below. In addition, the analysis covers the select non-coding variants specifically defined in the table below. Any variants that fall outside these regions are not analyzed. Any limitations in the analysis of these genes will be listed on the report. Contact client services with any questions.

Based on validation study results, this assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions and deletions <15bp in length, and exon-level deletions and duplications. Invitae's methods also detect insertions and deletions larger than 15bp but smaller than a full exon but sensitivity for these may be marginally reduced. Invitae’s deletion/duplication analysis determines copy number at a single exon resolution at virtually all targeted exons. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. Certain types of variants, such as structural rearrangements (e.g. inversions, gene conversion events, translocations, etc.) or variants embedded in sequence with complex architecture (e.g. short tandem repeats or segmental duplications), may not be detected. Additionally, it may not be possible to fully resolve certain details about variants, such as mosaicism, phasing, or mapping ambiguity. Unless explicitly guaranteed, sequence changes in the promoter, non-coding exons, and other non-coding regions are not covered by this assay. Please consult the test definition on our website for details regarding regions or types of variants that are covered or excluded for this test. This report reflects the analysis of an extracted genomic DNA sample. In very rare cases, (circulating hematolymphoid neoplasm, bone marrow transplant, recent blood transfusion) the analyzed DNA may not represent the patient's constitutional genome.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
APC* NM_000038.5
ATM* NM_000051.3
BMPR1A* NM_004329.2
BRCA1* NM_007294.3
BRCA2* NM_000059.3
CASR NM_000388.3
CDK4 NM_000075.3
CDKN2A* NM_000077.4; NM_058195.3
CFTR* NM_000492.3
CPA1 NM_001868.3
CTRC NM_007272.2
EPCAM* NM_002354.2
FANCC NM_000136.2
MEN1 NM_130799.2
MLH1* NM_000249.3
MSH2* NM_000251.2
MSH6 NM_000179.2
NF1 NM_000267.3
PALB2 NM_024675.3
PALLD NM_001166110.1
PMS2 NM_000535.5
PRSS1 NM_002769.4
SMAD4 NM_005359.5
SPINK1 NM_003122.4
STK11 NM_000455.4
TP53* NM_000546.5
TSC1 NM_000368.4
TSC2 NM_000548.3
VHL NM_000551.3

APC: The 1B promoter region is covered by both sequencing and deletion/duplication analysis. The 1A promoter region is covered by deletion/duplication analysis.
ATM: Sequencing analysis for exons 24 includes only cds +/- 10 bp.
BMPR1A: Deletion/duplication analysis covers the promoter region.
BRCA1: Sequence analysis includes +/- 20 base pairs of adjacent intronic sequence.
BRCA2: Sequence analysis includes +/- 20 base pairs of adjacent intronic sequence.
CDKN2A (p14ARF): CDKN2A: Analysis supports interpretation of the p14 and p16 proteins.; CDKN2A (p16INK4a): CDKN2A: Analysis supports interpretation of the p14 and p16 proteins.
CFTR: Sequencing analysis for exons 7 includes only cds +/- 10 bp.
EPCAM: Analysis is limited to deletion/duplication analysis.
MLH1: Deletion/duplication analysis covers the promoter region.
MSH2: Analysis includes the exon 1-7 inversion (Boland mutation).
TP53: Deletion/duplication analysis covers the promoter region.