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Pack 2: BRCA1 and BRCA2 testing – index case Portuguese founder mutation (blood) + NGS (blood or FFPE)

Speciality(ies) / Other Speciality(ies)

Oncology

Methodology

NGS

SNS Code

34900

OMIM

Gene Number

2

Test / Mutation List

BRCA1, BRCA2

TAT

4 to 6 weeks

Sample Type

Peripheral blood in EDTA tube (3 to 6mL); stable for 48h at room temperature (RT) or 72h refrigerated
or
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.