SCIENTIFIC BACKGROUND

RET, SDHAF2, SDHB, SDHC, SDHD, VHL

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Scientific Background

PreSENTIA hereditary Paraganglioma / Pheochromocytoma cancer panel tests for numerous germline mutations that could cause paraganglioma or pheochromocytoma 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 Paraganglioma or Pheochromocytoma cancers are those that have:

  • • Family or personal history of a hereditary cancer syndrome associated with paraganglioma / pheochromocytoma cancers
  • • A family member that has been diagnosed with a germline mutation associated with cancer susceptibility

 

How many genes are tested in this panel?

6 genes

 

How many hereditary cancer syndromes are associated with this panel?

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

  • Hereditary Paraganglioma – Pheochromocytoma syndrome (SDHD, SDHAF2, SDHC, SDHB)
  • Multiple endocrine neoplasia type 1 (MEN1)
  • Von-Hippel Lindau syndrome (VHL)
GENES
RET, SDHAF2, SDHB, SDHC, SDHD, VHL
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