Lynch Syndrome via MLPA of PMS2
Use
This test is for individuals with relevant features who have a clinical or suspected diagnosis of Lynch syndrome or constitutional mismatch repair deficiency, particularly those diagnosed with colorectal or endometrial cancer before age 50. It is also applicable for individuals with multiple Lynch syndrome-related cancers in close relatives diagnosed before age 50, those with tumor testing indicating microsatellite instability or loss of MMR protein expression, and individuals with negative PMS2 sequencing results but still showing clinical features of Lynch syndrome.
Special Instructions
The test is also intended for individuals without access to specific variant information for a family member with genetically-confirmed Lynch syndrome due to a PMS2 pathogenic variant, and for reproductive partners of individuals with a known pathogenic variant in PMS2.
Limitations
The test is based on Multiplex Ligation-Dependent Probe Amplification (MLPA), which may not detect all types of PMS2 pathogenic variants, such as deep intronic mutations or complex structural rearrangements not amenable to MLPA probes.
New York Approved
Methodology
Other (Multiplex Ligation-Dependent Probe Amplification)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided