Breast/ovarian cancer, familial (BRCA1/BRCA2 gene)
Clinical information
MATERIAL & VOLUME
EDTA blood, 2x 2-5ml
NOTES
-Declaration of consent is required (Form)
-Attach family medical history
CLINICAL INFORMATION
Each year, about 6000 women in Switzerland are diagnosed with breast cancer, and 600 women with ovarian cancer. About 24% of these familial tumor diseases can be attributed to pathogenic variants in the high-risk genes BRCA1 and BRCA2. Male BRCA mutation carriers may also be at increased risk for breast cancer and other tumor diseases. In addition to the two high-penetrance BRCA genes, mutations in other genes are also known to be predisposing to breast and/or ovarian cancer.
INDICATIONS FOR TESTING
-Especially in cases of inherited predisposition to breast cancer and possibly other cancers based on the personal and family medical history
-Early-onset of illness
-Presymptomatic genetic testing for known familial BRCA variant
RELATED TEST PROFILES, ESTIMATED TURNAROUND TIMES AND COSTS
9475 complete BRCA1 and BRCA2 gene test (incl. gene dose alterations): 4 - 8 weeks CHF 3700 - 4000
8552 complete BRCA1 only gene test (incl. gene dose alterations): 4 - 8 weeks CHF 3000
8553 complete BRCA2 only gene test (incl. gene dose alterations): 4 - 8 weeks CHF 3000
01417 Gene dosage analysis of known familial BRCA1 deletion: 2 - 4 weeks CHF 450
01420 Gene dosage analysis of known familial BRCA2 deletion: 2 - 4 weeks CHF 450
8556 Sequencing of known familial BRCA1/2 variant: 2 - 4 weeks CHF 300
POSITION / PRICE
Insurance covered
DNA-Extraction Pos.Nr.: 6001.03 TP 61.- CHF
NGS Pos.Nr.: 6241.60 TP 2900.- CHF
MLPA Pos.Nr.: 6241.55* TP 350.- CHF
Sanger-Sequencing Pos.Nr.: 6241.56 TP 215.- CHF
Pos.Nr.: 6013.58* TP 215.- CHF
* This position can vary depending on the number of genes to be analysed and the variants found.
METHOD
NGS – Sequencing of the complete coding sequence of the BRCA1 and/or BRCA2 genes (+/- 10 base pairs)
MLPA – Determination of gene dosage alterations (deletions/duplications) in the genes BRCA1- and/or BRCA2
Sanger sequencing – Targeted identification of known familial BRCA1or BRCA2 pathogenic variants by sequencing one exon
TESTING LABORATORY
labor team w ag
Blumeneggstrasse 55
9403 Goldach
