Description of Medical ServiceGenetic testing should be considered in patients with a personal history of colorectal or endometrial cancer with potential hereditary genetic risk of >10% as assessed by their treating specialist. This would include: CRC with evidence of mismatch repair deficiency (MMR) and/or clinical evidence of a possible familial polyposis syndrome; and cascade testing of family members of patients identified with clinically actionable pathogenic mutations on the request of a medical specialist or clinical geneticist.The proposed genes for testing are as follows: APC, SMAD4, BMPR1A, MLH1, MSH2, MSH6, PMS2, STK11, GREM1, MUTYH, EPCAM* [*deletions associated with epigenic silencing of MSH2]
Description of Medical ConditionFamilial adenomatous polyposis (FAP), juvenile polyposis syndrome (JPS), Lynch syndrome (formerly known as hereditary nonpolyposis colorectal cancer (HNPCC)), Peutz-Jeghers syndrome (PJS), hereditary mixed polyposis syndrome (HMPS) and autosomal recessive colorectal adenomatous polyposis (MUTYH-associated polyposis or MAP) are all inheritable syndromes predisposing to colorectal and other epithelial cancers.
Reason for ApplicationNew MBS item
Medical Service TypeInvestigative
Previous Application NumberNot Applicable
Application FormApplication Form (PDF 1000 KB)
Application Form (Word 132 KB)