Test Code: CMMRV

Hereditory Nonpolyposis Colorectral Cancer (HNPCC) Screening - MLH1&MSH2 Copy Number Variations (CNV)


Test Methodology:

Copy Number Variations (CNV) of HNPCC related genes namely MLH1 (NM_000249.3, chr.3p22.2), MSH2 (NM_000251.2, chr.2p21) and EPCAM (NM_002354.2, chr2p21) were detect by Multiplex Ligation-dependent Probe Amplification (MLPA). This state-of-art technology is a semi-quantitative technique that is used to determine the relative copy number of target genes up to 60 DNA sequences in a single multiplex PCR-based reaction. In this test, 48 MLPA probes were included in the assay to target 19 exons of the MLH1, 16 exons of the MSH2 and the last exon of EPCAM (formerly known as TACSTD1); quality control probes, internal control probes and gender confirmation probes are also included to provide reliable, high quality and accurate results.


Specimen Required: 

6ml EDTA Blood



Turnaround Time : 

Maximum to 5 weeks