CCDHB Logo

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

 

Test

Cost NZD*

Sample Requirements

Current TAT

BRCA1 or BRCA2 MLPA predictive test $142 2 separate samples of 2 x 4 ml of whole blood in EDTA (purple top).  Samples to be taken on different days 4 weeks

 
*No direct charge for the central region DHBs covered by the Crown Funding Agreement

BRCA1 and BRCA2 MLPA

ABOUT US

Wellington Regional Genetics Laboratory (WRGL) provides a comprehensive, integrated diagnostic cytogenetic and molecular genetic testing service

btn find
 
f1
 

CONTACT US

(04) 918-5352
wrgl@ccdhb.org.nz