SCIENTIFIC BACKGROUND

ATM, BRCA1, BRCA2, BRIP1, EPCAM, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, MLH1, MSH2, MSH6, PALB2, PMS2, RAD51C, SLX4, TP53

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Scientific Background

PreSENTIA hereditary Myelodysplastic syndrome/Leukemia cancer panel tests for numerous germline mutations that could cause blood cancers in the future. Identifying germline mutations associated with cancer susceptibility empowers healthcare providers and patients, as it allows them to take better and more informed decisions.

 

Who is this test for?

According to genetic testing guidelines, people who might benefit from genetic testing for hereditary myelodysplastic syndromes or leukemias are those that have:

  • • Family history of a hereditary cancer syndrome associated with leukemia
  • •  Personal history of a hereditary cancer syndrome associated with leukemia
  • •  An identical twin who developed leukemia in the first year of life
  • •  A family member that has been diagnosed with a germline mutation associated with cancer susceptibility

 

How many genes are tested in this panel?

24 genes

 

How many hereditary cancer syndromes are associated with this panel?

6 Hereditary cancer syndromes are associated with this panel. These are:

Ataxia-telangiectasia syndrome (ATM)

• Constitutional mismatch repair syndrome (EPCAM, MSH2, MSH6, MLH1, PMS2)

  • Fanconi anemia syndrome (FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, SLX4, ERCC4, BRCA1, BRCA2, BRIP1, PALB2, RAD51C)
  • Hereditary breast & ovarian syndrome (BRCA1 & BRCA2)
  • • Li-Fraumeni syndrome (TP53)

• Lynch syndrome (EPCAM, MLH1, MSH2, MSH6, PMS2)

GENES
ATM, BRCA1, BRCA2, BRIP1, EPCAM, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, MLH1, MSH2, MSH6, PALB2, PMS2, RAD51C, SLX4, TP53
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