Test description
A diagnosis of Lynch Syndrome is confirmed by the detection of a pathogenic germline variant in one of the MMR genes (MLH1, MSH2, MSH6 and PMS2) or the EPCAM gene.
Test information
Test name
Lynch Syndrome Gene Panel
Clinical indication
Used for investigation of Lynch Syndrome in patients with colorectal cancer or endometrial cancer where there is a familial risk of ≥10%.
Gene(s)
MLH1, MSH2, MSH6, PMS2, EPCAM
Method
Massively Parallel Sequencing
Turn around time
4 weeks
Medicare eligibility
73354 – conditions apply
Price
$479 if not Medicare eligible
Test request form
Cancer Genetics request form preferred. Standard pathology request form accepted.
Sample type
Blood x 2
Collection type
6mL EDTA
Special instructions
2 x Bloods taken at 10 minute intervals. Pre test genetic counselling required. Patient to sign consent form prior to testing.