Test Details
Test Name
:
MLH1/MSH2/MSH6/PMS2/EPCAM SOMATIC TUMOR MMR SEQUENCING AND DEL/DUP TEST
Alternative Test Names
:
MLH1/MSH2/MSH6/PMS2/EPCAM SOMATIC TUMOR MMR SEQUENCING AND DEL/DUP TEST
Code:
GMMR
Test Overview
:
The Somatic Tumor MMR Sequencing and Deletion/Duplication includes: - Sequence analysis of all coding exons and flanking intronic regions of all 5 genes using Next Generation Sequencing (NGS) - For copy number changes Multiplex Ligation-dependent Probe Amplification (MLPA) is used to look for whole-exon and multi-exon deletions and duplications in MLH1, MSH2, MSH6 and PMS2 (for EPCAM, only a subset of exons are interrogated by MLPA). - All suspicious variants will be confirmed by an alternative sequencing method.
Test Preparation Instructions
:
N/A