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A targeted sequencing of several genes involved in adult’s bone diseases (osteopetrosis, Paget’s disease and osteoporosis of the young adult) is realized with the Miseq device (Illumina).

The analyzed genes in our laboratory are the following: CLCN7, LRP5, WNT1, SOST, DKK1, RANK, RANKL, OPG, SQSTM1 and PLS3

Bone markers dosages are associated with the genetic analysis in order to complete or to guide the molecular diagnostic.

The biological phenotype includes the following serum markers: CTX, TRAP5, Bone Alkaline Phosphatases and P1NP.