Assessment of the penetrance of mutations/deletions in the SDHB and SDHD genes
Evaluation of new generation sequencing efficiency in the analysis of MEN1, CDKN2B...
Detection of CYP21A2 large gene rearrangements through the Multiplex Ligation-Depe...
Investigation of germline pathogenic variants in SDHB, SDHD, SDHC, TMEM127 and MAX...
Screening of variants of unkown significance (VUS) in the RET proto-oncogene in p...
Screening of variants of unkown significance (VUS) in the RET proto-oncogene in pa...
Lysis of steroid 5alpha reductase 2 (SRD5A2) gene mutations in indetermined 46,XY ...