Disorders

X-Linked Hypophosphatemia

Synonym(s): XLHR, X-Linked Hypophosphatemic Rickets, X-linked Vitamin D-Resistant Rickets

Gene	Locus	Protein
PHEX	Xp22.2-p22.1	Phosphate-regulating neutral endopeptidase

Laboratory	Test Method	Prenatal	Carrier *
Amplexa Genetics A/S, Amplexa Genetics - Odense, Denmark
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany
Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics - Weisswasser, Germany
Centogene AG, Rare Disease Company - Rostock, Germany
Connective Tissue Gene Tests - Allentown, PA, USA
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany
diagenos - Osnabrueck, Germany
GeneDx - Gaithersburg, MD, USA
GENETAQ, Molecular Genetics Centre - Malaga, Spain
Health Care Center GENOMED, Laboratory of Human Genetics - Warsaw, Poland	• Sequence analysis of select exons
Innovagenomics S.L, Innovagenomics - Salamanca, Spain
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany
MEDGEN, Genetic Diagnostics Laboratory - Warsaw, Poland	• Sequence analysis of select exons
Medgene, MedGene - Bratislava, Slovakia
Odense University Hospital, Department of Genetics - Odense, Denmark
Praxis fuer Humangenetik Wien - Vienna, Austria
Royal Devon and Exeter Hospital, Department of Molecular Genetics - Exeter, Great Britain
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
University Hospital of Antwerp, Department of Medical Genetics - Wuyts Lab - Edegem, Belgium

^* 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.