This condition is likely due to haploinsufficiency of BMP2 given the phenotypic similarity between individuals with whole gene deletions and intragenic truncating variants. Molecular diagnosis can be achieved by exome/genome sequencing or panel testing (if BMP2 is included in the panel). Single gene sequencing can be performed when informed by clinical characteristics, however it is not recommended due to its inefficiency when the clinical hypothesis is imprecise.
BMP2