ATM, BRCA1, BRCA2, CDH1, EPCAM, HOXB13, MLH1, MSH2, MSH6, PALB2, PMS2, PTEN , RAD51C, RAD51D, TP53

Lib Twist, Seq Illumina 2x150 Novaseq 6000. Perf: # 98% at 30x on Refseq + 2 pb, sensibility > 99% (perf checked on GiaB, on refseq target +/-20 pb with >15 Mo pairs reads, and 95% covereged > 10X ). Exome with accreditation ISO1589, CE-IVD pipeline, data on secured HPD server.

1 x 5 mL1 x 5 mL Whole blood EDTA (1 full tube) or 1 extracted DNA tube (minimum volume 50µL with a minimum quantity of 1µg)Ambient temperature

4 Weeks