To search for sequence rearrangements in our patients, we adapted the qPCR-HRM method for the study of intragenic deletions and duplications in the MVK (Mevalonate kinase, MIM#251170; NM_000431.1), NLRP3 (Nod like receptor family, pyrin domain containing 3, MIM#606416; NM_004895.3) and TNFRSF1A (TNF receptor superfamily 1A, MIM#191190; NM_001065.2) genes, responsible for MKD, CAPS and TRAPS respectively. The gene discussed is MVK; the disease is mevalonic aciduria.