Disorders

Vitamin D-Dependent Rickets Type I

Synonym(s): 1 alpha hydroxylase deficiency, Pseudovitamin D Deficiency Rickets

Gene	Locus	Protein
CYP27B1	12q13.3-q14	25-hydroxyvitamin D-1 alpha hydroxylase

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
Connective Tissue Gene Tests - Allentown, PA, USA
diagenos - Osnabrueck, Germany
GeneDx - Gaithersburg, MD, USA	• Targeted mutation analysis
Medgene, MedGene - Bratislava, Slovakia
Praxis fuer Humangenetik Wien - Vienna, Austria

^* 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.