Primary Study Objectives:~Determine if cryptic alterations exist within or near to the ALPL gene in patients with clinical diagnosis of hypophosphatasia, but without identifiable pathogenic or likely pathogenic variant on commercial testing.~Secondary Study Objective(s):~Characterize functional effects of variants of uncertain significance in patients with clinical diagnosis of hypophosphatasia~Further characterize the differential diagnosis of hypophosphatasemia in patients with skeletal disease
This study is being done to determine if cryptic alterations exist within or near to the ALPL gene in patients with a clinical diagnosis of hypophosphatasia, but without identifiable alteration on commercial testing. Additionally, the study aims to characterize functional effects of certain variants of uncertain significance in patients with clinical diagnosis of hypophosphatasia.