Test Code: CBR1V

Breast / Ovarian Cancer Screening - BRCA1 Copy Number Variations (CNV)

Test Methodology:

Copy Number Variations (CNV) of breast and ovarian cancer related gene BRCA1 (NM_007294.3) 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 24 exons of BRCA1. At least one MLPA probe is present for each exon in the major BRCA1 while eight probes are present for exon 11 (3426 nt long); three probes are present for exon 13, which is frequently deleted or duplicated (Hogervorst et al. 2003); three probes are present for exon 24 and two probes for exon 16; one probe is included for exon 1b, which is the first exon in transcript variants 3 and 5; and two probes detect sequences located 4.6 kb and 0.7 kb upstream of the BRCA1 gene. In addition, 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