Disorders

Hereditary Hypophosphatemic Rickets with Hypercalciuria

Synonym(s): HHRH, Hypercalciuric Rickets

Gene	Locus	Protein
SLC34A3	9q34.3	Sodium-dependent phosphate transport protein 2C

Laboratory	Test Method	Prenatal	Carrier *
Amplexa Genetics A/S, Amplexa Genetics - Odense, Denmark
Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics - Weisswasser, Germany
Royal Devon and Exeter Hospital, Department of Molecular Genetics - Exeter, Great Britain

^* 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.