FAMILIAL HYPOCALCIURIC HYPERCALCAEMIA

CASR, GNA11 AND AP2S1 GENE ANALYSIS

Familial Hypocalciuric Hypercalcaemia (FHH) is an autosomal dominant disorder characterised by elevated serum calcium concentrations with inappropriately low urinary calcium excretion and a normal or mildly elevated circulating parathyroid hormone level.

FHH type 1 is caused by disease-causing variants in the CASR gene,  FHH type 2 is caused by disease-causing variants in the GNA11 gene and FHH type 3 is caused by disease-causing variants in the AP2S1 gene.

The laboratory participates in the European Molecular Genetics Quality Network (EMQN) sequencing scheme.