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.
NHSE test directory code: R152 Hypocalciuric hypercalcaemia. Testing criteria can be found on this webpage: https://www.england.nhs.uk/publication/national-genomic-test-directories/.
The laboratory participates in the European Molecular Genetics Quality Network (EMQN) sequencing scheme.
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