Disorders


 

Hereditary Hypophosphatemic Rickets with Hypercalciuria


Synonym(s): HHRH, Hypercalciuric Rickets

 

OMIM

GeneLocusProtein
SLC34A39q34.3Sodium-dependent phosphate transport protein 2C

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

* 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.

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