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  • Test code: 01411
  • Turnaround time:
    10–21 calendar days (14 days on average)
  • Preferred specimen:
    3mL whole blood in a purple-top EDTA tube (K2EDTA or K3EDTA)
  • Alternate specimens:
    Saliva, assisted saliva, buccal swab and gDNA
  • Sample requirements
  • Request a sample kit
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Invitae Myelodysplastic Syndrome/Leukemia Panel

Test description

The Invitae Myelodysplastic Syndrome/Leukemia Panel analyzes genes associated with a hereditary predisposition to the development of myelodysplastic syndrome (MDS) and acute leukemias. These genes were selected based on the available evidence to date to provide Invitae’s most comprehensive hereditary MDS/leukemia panel. Some of these genes are also associated with an increased risk of other cancer types.

The primary panel includes 16 genes associated with MDS/leukemia. In addition to the primary panel, clinicians can also choose to include 5 genes that have preliminary evidence of an association with MDS/leukemia. At this time, the association of these genes with MDS/leukemia remains uncertain; however, some clinicians may wish to include genes that may prove to be clinically significant in the future. These genes can be added at no additional charge.

Genetic testing of these genes may confirm a diagnosis and help guide treatment and management decisions. Identification of a disease-causing variant may 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.

If the patient has undergone an allogenic bone marrow transplant (using bone marrow from a donor) prior to genetic testing or has a current hematological malignancy with actively circulating tumor cells, testing a sample type not derived from blood (such as skin biopsy) is warranted. While we do not accept this sample type directly, we can accept gDNA derived from skin or muscle, though deletion/duplication analysis is not guaranteed for gDNA samples because the success rate varies based on sample quality. Please see our Sample requirements page for more details.

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Primary panel (16 genes)

ATM BLM CEBPA EPCAM GATA2 HRAS MLH1 MSH2 MSH6 NBN NF1 PMS2 RUNX1 TERC TERT TP53

Add-on Preliminary-evidence Genes for Myelodysplastic Syndrome/Leukemia (5 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.

BRCA1 BRCA2 BRIP1 CHEK2 PALB2

Add-on Dyskeratosis Congenita Primary Genes (9 genes)

Dyskeratosis congenita is a clinically and genetically heterogeneous condition that is characterized by abnormal skin pigmentation, nail dystrophy, oral leukoplakia, and increased risk of progressive bone marrow failure and development of hematologic malignancies. Additional genes associated with dyskeratosis congenita may be added to this panel at no additional charge for patients with dyskeratosis congenita-associated features.

CTC1 DKC1 NHP2 NOP10 PARN RTEL1 TERC TERT TINF2

Add-on Fanconi Anemia Genes (17 genes)

Fanconi anemia is a multisystemic disorder characterized by a variable spectrum of physical abnormalities, developmental delay and increased risk of progressive bone marrow failure and hematologic malignancy. Additional genes associated with Fanconi anemia may be added to this panel at no additional charge.

BRCA2 BRIP1 ERCC4 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM PALB2 RAD51C SLX4 XRCC2

  • ataxia-telangiectasia (A-T)
  • Bloom syndrome
  • constitutional mismatch repair deficiency syndrome (CMMR-D)
  • Costello syndrome
  • familial acute myeloid leukemia (AML) with mutated CEBPA
  • familial platelet disorder with propensity to myeloid malignancy (FPD/AML)
  • GATA2 deficiency
  • Li-Fraumeni syndrome (LFS)
  • neurofibromatosis type 1 (NF1)
  • Nijmegen breakage syndrome (NBS)
  • TERT-related dyskeratosis congenita
  • TERC-related dyskeratosis congenita

MDS is a clonal hematologic disorder causing ineffective production of blood cells, often characterized by cytopenias, myelodysplasia, and an increased risk of developing acute myeloid leukemia (AML). AML is characterized by the uncontrolled growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells. MDS and AML generally occur among the elderly and the incidence increases with age. Cases of early-onset MDS/AML in children or young adults may be associated with underlying hereditary predisposition syndromes. Hereditary MDS or AML may present as part of the clinical spectrum of a particular genetic syndrome, along with other prominent features. Non-syndromic familial MDS/AML is characterized by a strong family history of MDS or AML without other apparent clinical findings. Most cases are caused by inheriting a single pathogenic variant in a gene encoding a transcription factor critical for hematopoiesis. Familial occurrences of MDS/AML appear to be rare, but may be underdiagnosed.

Identification of an underlying genetic predisposition in an individual with a personal or family history of MDS/leukemia is critical for the selection of therapy regimens, consideration of bone marrow or stem cell transplant, long-term cancer surveillance and prognosis, and counseling of the individual and their family.

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 may manifest with different symptoms, 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, see the table below.

GeneEstimated MDS/leukemia riskReferences (PMIDs)
CEBPA ~90% (based on small studies) 26162409
GATA2 50%–90% 24227816, 24345756
RUNX1 ~35% (based on small studies) 18723428
TERC 30% 20507306, 19282459
TERT 30% 20507306, 19282459

Several hereditary cancer syndromes are associated with malignancies throughout childhood and into adulthood. The following genetic syndromes have been reported to increase the risk of developing leukemia (PMID: 24857136), among other prominent clinical features. See table below for condition-specific risks.

ConditionGenesEstimated leukemia riskReferences (PMIDs)
Ataxia-telangiectasia ATM 70 times greater than the general population risk for acute lymphoblastic leukemia (ALL) 3459930, 12673804
Bloom syndrome BLM 15% 9062585
Constitutional mismatch repair deficiency syndrome (CMMR-D) EPCAM, MLH1, MSH2, MSH6, PMS2 elevated 18709565, 16341812, 24737826
Costello syndrome HRAS elevated 25742478, 21500339
Nijmegen breakage syndrome NBN elevated 11325820, 16840438
Neurofibromatosis type 1 NF1 11% for myelodysplastic syndrome (MDS), 200-500 times greater than the general population risk for juvenile myelomonocytic leukemia (JMML) 22240541, 23257896
Li-Fraumeni syndrome TP53 1%–3% 19204208, 20522432

Most of the genes on this panel have autosomal dominant inheritance. Several also have autosomal recessive inheritance, or result in clinically distinct autosomal recessive conditions, as outlined below:

  • ATM is associated with ataxia telangiectasia
  • BLM is associated with Bloom syndrome
  • MLH1, MSH2, MSH6, PMS2 are associated with constitutional mismatch repair deficiency syndrome (CMMR-D)
  • NBN is associated with Nijmegen breakage syndrome

This panel may be considered for individuals whose personal and/or family history is suggestive of a hereditary predisposition to MDS or leukemia, including any of the following:

  • MDS or leukemia occurring at a young age (without prior history of chemotherapy)
  • a personal or family history of:
    • low blood counts
    • bleeding diathesis
    • lymphedema
    • immune deficiencies or atypical infections
  • a family history of:
    • MDS/AML/ALL/aplastic anemia
    • early onset cancers of any type
    • several close relatives with cancer
  • additional features that are consistent with the clinical presentation of a genetic syndrome with increased risk of MDS and/or leukemia

If the patient has undergone an allogenic bone marrow transplant (using bone marrow from a donor) prior to genetic testing or currently has a hematological malignancy with actively circulating tumor cells, testing a sample type not derived from blood (such as skin biopsy) is warranted. While we do not accept this sample type directly, we can accept gDNA derived from skin or muscle, but deletion/duplication analysis is not guaranteed for gDNA samples because the success rate varies based on sample quality. Please see our Sample requirements page for more details.

For proposed recommendations to genetic counseling, testing, and clinical management, please refer to:
Churpek JE, et al. Proposal for the clinical detection and management of patients and their family members with familial myelodysplastic syndrome/acute leukemia predisposition syndromes. Leuk Lymphoma. 2013 Jan;54(1):28-35.

  1. 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
  2. Wimmer, K, et al. Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium 'care for CMMRD' (C4CMMRD). J. Med. Genet. 2014; 51(6):355-65. doi: 10.1136/jmedgenet-2014-102284. PMID: 24737826
  3. Flanagan M, et al. GeneReviews (Internet). University of Washington, Seattle; Available from: http://www.ncbi.nlm.nih.gov/books/NBK1398/ PMID: 20301572
  4. Vasen, HF, et al. Guidelines for surveillance of individuals with constitutional mismatch repair-deficiency proposed by the European Consortium Care for CMMR-D" (C4CMMR-D). J. Med. Genet. 2014; 51(5):283-93. doi: 10.1136/jmedgenet-2013-102238. " PMID: 24556086
  5. Gatti, R. Ataxia-Telangiectasia. 1999 Mar 19. In: Pagon, RA, et al, editors. GeneReviews (Internet). University of Washington, Seattle; Available from: http://www.ncbi.nlm.nih.gov/books/NBK26468/ PMID: 20301790
  6. Kratz, CP, et al. Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes. Br. J. Cancer. 2015; 112(8):1392-7. doi: 10.1038/bjc.2015.75. PMID: 25742478
  7. Alter, BP, et al. Malignancies and survival patterns in the National Cancer Institute inherited bone marrow failure syndromes cohort study. Br. J. Haematol. 2010; 150(2):179-88. doi: 10.1111/j.1365-2141.2010.08212.x. PMID: 20507306
  8. Walne, AJ, et al. Constitutional mutations in RTEL1 cause severe dyskeratosis congenita. Am. J. Hum. Genet. 2013; 92(3):448-53. PMID: 23453664
  9. Renneville, A, et al. Another pedigree with familial acute myeloid leukemia and germline CEBPA mutation. Leukemia. 2009; 23(4):804-6. PMID: 18946494
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  14. Mansour, S, et al. Emberger syndrome-primary lymphedema with myelodysplasia: report of seven new cases. Am. J. Med. Genet. A. 2010; 152A(9):2287-96. PMID: 20803646
  15. Preudhomme, C, et al. High frequency of RUNX1 biallelic alteration in acute myeloid leukemia secondary to familial platelet disorder. Blood. 2009; 113(22):5583-7. PMID: 19357396
  16. Owen, CJ, et al. Five new pedigrees with inherited RUNX1 mutations causing familial platelet disorder with propensity to myeloid malignancy. Blood. 2008; 112(12):4639-45. PMID: 18723428
  17. Alter, BP, et al. Cancer in dyskeratosis congenita. Blood. 2009; 113(26):6549-57. PMID: 19282459
  18. Churpek, JE, et al. Proposal for the clinical detection and management of patients and their family members with familial myelodysplastic syndrome/acute leukemia predisposition syndromes. Leuk. Lymphoma. 2013; 54(1):28-35. PMID: 22691122
  19. Babushok, DV, Bessler, M. Genetic predisposition syndromes: when should they be considered in the work-up of MDS?. Best Pract Res Clin Haematol. 2015; 28(1):55-68. PMID: 25659730
  20. Spinner, MA, et al. GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity. Blood. 2014; 123(6):809-21. PMID: 24227816
  21. Dickinson, RE, et al. The evolution of cellular deficiency in GATA2 mutation. Blood. 2014; 123(6):863-74. PMID: 24345756
  22. Malkin, D, et al. Predisposition to pediatric and hematologic cancers: a moving target. Am Soc Clin Oncol Educ Book. 2014; :e44-55. PMID: 24857136
  23. Takagi, M. [Genetics of hereditary hematological malignancies]. Rinsho Ketsueki. 2015; 56(10):1969-77. PMID: 26458435
  24. Schiffman, JD. Applying Molecular Epidemiology in Pediatric Leukemia. J. Investig. Med. 2015; :None. PMID: 25973690
  25. Owen, C, et al. Familial myelodysplasia and acute myeloid leukaemia--a review. Br. J. Haematol. 2008; 140(2):123-32. PMID: 18173751
  26. Liew, E, Owen, C. Familial myelodysplastic syndromes: a review of the literature. Haematologica. 2011; 96(10):1536-42. PMID: 21606161
  27. de, Rooij, JD, et al. Pediatric AML: From Biology to Clinical Management. J Clin Med. 2015; 4(1):127-49. PMID: 26237023
  28. Holme, H, et al. Marked genetic heterogeneity in familial myelodysplasia/acute myeloid leukaemia. Br. J. Haematol. 2012; 158(2):242-8. PMID: 22533337
  29. West, AH, et al. Familial myelodysplastic syndrome/acute leukemia syndromes: a review and utility for translational investigations. Ann. N. Y. Acad. Sci. 2014; 1310:111-8. PMID: 24467820
  30. Pabst, T, et al. Somatic CEBPA mutations are a frequent second event in families with germline CEBPA mutations and familial acute myeloid leukemia. J. Clin. Oncol. 2008; 26(31):5088-93. PMID: 18768433
  31. Churpek, JE, et al. Identifying familial myelodysplastic/acute leukemia predisposition syndromes through hematopoietic stem cell transplantation donors with thrombocytopenia. Blood. 2012; 120(26):5247-9. PMID: 23258901
  32. Tawana, K, et al. Disease evolution and outcomes in familial AML with germline CEBPA mutations. Blood. 2015; 126(10):1214-23. PMID: 26162409
  33. Varon, R, et al. Mutations in the Nijmegen Breakage Syndrome gene (NBS1) in childhood acute lymphoblastic leukemia (ALL). Cancer Res. 2001; 61(9):3570-2. PMID: 11325820
  34. Krüger, L, et al. Cancer incidence in Nijmegen breakage syndrome is modulated by the amount of a variant NBS protein. Carcinogenesis. 2007; 28(1):107-11. PMID: 16840438
  35. Gumy, Pause, F, et al. ATM gene alterations in childhood acute lymphoblastic leukemias. Hum. Mutat. 2003; 21(5):554. PMID: 12673804
  36. Morrell, D, et al. Mortality and cancer incidence in 263 patients with ataxia-telangiectasia. J. Natl. Cancer Inst. 1986; 77(1):89-92. PMID: 3459930
  37. German, J. Bloom's syndrome. XX. The first 100 cancers. Cancer Genet. Cytogenet. 1997; 93(1):100-6. PMID: 9062585
  38. Wimmer, K, Etzler, J. Constitutional mismatch repair-deficiency syndrome: have we so far seen only the tip of an iceberg?. Hum. Genet. 2008; 124(2):105-22. PMID: 18709565
  39. Bandipalliam, P. Syndrome of early onset colon cancers, hematologic malignancies & features of neurofibromatosis in HNPCC families with homozygous mismatch repair gene mutations. Fam. Cancer. 2005; 4(4):323-33. PMID: 16341812
  40. Dokal, I. Dyskeratosis congenita. Hematology Am Soc Hematol Educ Program. 2011; 2011:480-6. PMID: 22160078
  41. Stieglitz, E, Loh, ML. Genetic predispositions to childhood leukemia. Ther Adv Hematol. 2013; 4(4):270-90. PMID: 23926459
  42. Smith, ML, et al. Mutation of CEBPA in familial acute myeloid leukemia. N. Engl. J. Med. 2004; 351(23):2403-7. PMID: 15575056
  43. Nanri, T, et al. A family harboring a germ-line N-terminal C/EBPalpha mutation and development of acute myeloid leukemia with an additional somatic C-terminal C/EBPalpha mutation. Genes Chromosomes Cancer. 2010; 49(3):237-41. PMID: 19953636
  44. Sellick, GS, et al. Further evidence that germline CEBPA mutations cause dominant inheritance of acute myeloid leukaemia. Leukemia. 2005; 19(7):1276-8. PMID: 15902292
  45. Kratz, CP, et al. Cancer in Noonan, Costello, cardiofaciocutaneous and LEOPARD syndromes. Am J Med Genet C Semin Med Genet. 2011; 157C(2):83-9. PMID: 21500339
  46. Patil, S, Chamberlain, RS. Neoplasms associated with germline and somatic NF1 gene mutations. Oncologist. 2012; 17(1):101-16. PMID: 22240541
  47. Wimmer, K, Kratz, CP. Constitutional mismatch repair-deficiency syndrome. Haematologica. 2010; 95(5):699-701. PMID: 20442441
  48. Chun, HH, Gatti, RA. Ataxia-telangiectasia, an evolving phenotype. DNA Repair (Amst.). 2004; 3(8-9):1187-96. PMID: 15279807
  49. Teive, HA, et al. Ataxia-telangiectasia - A historical review and a proposal for a new designation: ATM syndrome. J. Neurol. Sci. 2015; 355(1-2):3-6. PMID: 26050521
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  53. Wolska-Kuśnierz, B, et al. Nijmegen Breakage Syndrome: Clinical and Immunological Features, Long-Term Outcome and Treatment Options - a Retrospective Analysis. J. Clin. Immunol. 2015; 35(6):538-49. PMID: 26271390
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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
ATM* NM_000051.3
BLM NM_000057.3
BRCA1* NM_007294.3
BRCA2* NM_000059.3
BRIP1 NM_032043.2
CEBPA NM_004364.4
CHEK2 NM_007194.3
CTC1 NM_025099.5
DKC1 NM_001363.4
EPCAM* NM_002354.2
ERCC4 NM_005236.2
FANCA NM_000135.2
FANCB NM_001018113.1
FANCC NM_000136.2
FANCD2* NM_033084.3
FANCE NM_021922.2
FANCF NM_022725.3
FANCG NM_004629.1
FANCI NM_001113378.1
FANCL* NM_018062.3
FANCM NM_020937.2
GATA2 NM_032638.4
HRAS NM_005343.2
MLH1* NM_000249.3
MSH2* NM_000251.2
MSH6* NM_000179.2
NBN NM_002485.4
NF1* NM_000267.3
NHP2 NM_017838.3
NOP10 NM_018648.3
PALB2 NM_024675.3
PARN NM_002582.3
PMS2* NM_000535.5
RAD51C NM_058216.2
RTEL1 NM_001283009.1
RUNX1 NM_001754.4
SLX4 NM_032444.2
TERC NR_001566.1
TERT NM_198253.2
TINF2 NM_001099274.1
TP53* NM_000546.5
XRCC2 NM_005431.1

ATM: Sequencing analysis for exons 6, 24, 43 includes only cds +/- 10 bp.
BRCA1: Sequence analysis includes +/- 20 base pairs of adjacent intronic sequence.
BRCA2: Sequence analysis includes +/- 20 base pairs of adjacent intronic sequence.
EPCAM: Sequencing analysis is not offered for this gene.
FANCD2: Deletion/duplication analysis is not offered for exons 14-17, 22 and sequencing analysis is not offered for exons 15-17. Sequencing analysis for exons 6, 14, 18, 20, 23, 25, 34 includes only cds +/- 10 bp.
FANCL: Sequencing analysis for exons 4, 10 includes only cds +/- 10 bp.
MLH1: Deletion/duplication analysis covers the promoter region. Sequencing analysis for exon 12 is limited to cds +/-10 bp.
MSH2: Analysis includes the exon 1-7 inversion (Boland mutation). Sequencing analysis for exons 2, 5 includes only cds +/- 10 bp.
MSH6: Sequencing analysis for exons 7, 10 is limited to cds +/-10 bp.
NF1: Sequencing analysis for exons 2, 7, 25, 41, 48 includes only cds +/- 10 bp.
PMS2: Sequencing analysis for exons 7 includes only cds +/- 10 bp.
TP53: Deletion/duplication analysis covers the promoter region.