Disorders

Familial Hypocalciuric Hypercalcemia Type 3

Synonym(s): Familial Hypocalciuric Hypercalcemia Type III

Gene	Locus	Protein
AP2S1	19q13.2-q13.3	AP-2 complex subunit sigma

Laboratory	Test Method	Prenatal	Carrier *
Oxford Medical Genetics Laboratories, Oxford Genetics Laboratories - Oxford, Great Britain	• Targeted mutation analysis

^* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.