Prevention Genetics

Who is this test for?

Individuals with relevant features who have a clinical or suspected diagnosis of Lynch syndrome or constitutional mismatch repair deficiency
Individuals with relevant features who have a clinical or suspected diagnosis of Lynch syndrome or constitutional mismatch repair deficiency
Individuals diagnosed with colorectal or endometrial cancer before age 50
Individuals with multiple Lynch syndrome-related cancers in first- or second-degree relatives diagnosed before age 50
Individuals with tumor testing showing microsatellite instability or loss of MMR protein expression
Individuals with negative PMS2 sequencing results who still have clinical features of Lynch syndrome
Individuals without access to the specific variant information for a family member who has genetically-confirmed Lynch syndrome due to a PMS2 pathogenic variant
Reproductive partners of individuals with a known pathogenic variant in PMS2

Method

Multiplex Ligation-Dependent Probe Amplification Assay

Specimen(s)

Blood, Buccal, Saliva

Lynch Syndrome via MLPA of PMS2

Who is this test for?	Individuals with relevant features who have a clinical or suspected diagnosis of Lynch syndrome or constitutional mismatch repair deficiency Individuals with relevant features who have a clinical or suspected diagnosis of Lynch syndrome or constitutional mismatch repair deficiency Individuals diagnosed with colorectal or endometrial cancer before age 50 Individuals with multiple Lynch syndrome-related cancers in first- or second-degree relatives diagnosed before age 50 Individuals with tumor testing showing microsatellite instability or loss of MMR protein expression Individuals with negative PMS2 sequencing results who still have clinical features of Lynch syndrome Individuals without access to the specific variant information for a family member who has genetically-confirmed Lynch syndrome due to a PMS2 pathogenic variant Reproductive partners of individuals with a known pathogenic variant in PMS2
Method	Multiplex Ligation-Dependent Probe Amplification Assay
Specimen(s)	Blood, Buccal, Saliva