Disorders


 

X-Linked Hypophosphatemia


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

 

GeneReviewOMIM

GeneLocusProtein
PHEXXp22.2-p22.1Phosphate-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.

Loading...