BRCA1 & BRCA2 MLPA

Background

Mutations in BRCA1 (OMIM 113705) and BRCA2 (OMIM 600185) are important causes of hereditary breast cancer. These defects include point mutations (missense and nonsense), small insertion/deletion mutations and deletions or duplications of single or multiple exons (genomic rearrangements). Deletions and duplications cannot be detected by Sanger sequencing however can be detected by multiplex ligation-dependant probe amplification analysis (MLPA). Predictive testing is offered for families in which a deletion or duplication has previously been identified. 
 

 Testing at WRGL

MLPA analysis is performed using commercially available kits from MRC Holland (www.mrc-holland.com) followed by analysis on a 3130 Genetic Analyser. Data is analysed using GeneMarker software (www.softgenetics.com). Results are compared with positive and negative controls.
 

Cost, Sample Requirements & Turnaround Times