Pack 1: BRCA1 and BRCA2 testing – index case Portuguese founder mutation (blood) + NGS (blood or FFPE) + MLPA (blood)
Speciality(ies) / Other Speciality(ies)
NGS, with MLPA
Test / Mutation List
4 to 6 weeks
Peripheral blood in EDTA tube (3 to 6mL); stable for 48h at room temperature (RT) or 72h refrigerated
DNA (> 5μg with concentration >20ng/μL); stable for 48h at RT or >48h refrigerated
Tumor tissue (10-15 FFPE sections with 10μm) with a fresh H&E slide, that represents the current sample.