Disorders

Hypophosphatemic Rickets, Autosomal Dominant

Gene	Locus	Protein
FGF23	12p13	Fibroblast growth factor 23

Laboratory	Test Method	Prenatal	Carrier *
Amplexa Genetics A/S, Amplexa Genetics - Odense, Denmark
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA
Biyolojik Bilimler Arastirma Gelistirme ve Uretim AS, Duzen Laboratuvarlar Grubu - Istanbul, Turkey
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany
Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics - Weisswasser, Germany	• Targeted mutation analysis
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
Innovagenomics S.L, Innovagenomics - Salamanca, Spain	• Mutation scanning of the entire coding region
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany
Medgene, MedGene - Bratislava, Slovakia
Praxis fuer Humangenetik Wien - Vienna, Austria
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.