Test Code: CBR2V

Breast / Ovarian / Prostate Cancer Cancer Screening - BRCA2 Copy Number Variations (CNV)

Test Methodology:

Copy Number Variations (CNV) of breast, ovarian and prostate cancer related gene BRCA2 (NM_000059.3) and CHEK2 (NM_007194.3) are detected 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, 44 MLPA probes are included in the assay to target 27 exons of BRCA2 and CHEK2. At least one MLPA probe is present for each exon of BRCA2 gene while two probes are presenting for exons 1, 3 and 27, also for the large exon 11; in addition, two probes are present for sequences just before and after the BRCA2 gene. Furthermore, three probes for the CHEK2 gene on 22q12.1 are included. One of these probes will only result in an amplification product in case the DNA sample contains the CHEK2 1100delC mutation. The 1100delC allele appears to result in an increased risk for breast cancer and prostate cancer. Nevertheless, quality control probes, internal control probes and gender confirmation probes are also included in this assay to provide reliable, high quality and accurate results.

Specimen Required: 

6ml EDTA Blood

Turnaround Time : 

Maximum to 5 weeks