Disorders


 

Vitamin D-Dependent Rickets Type I


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

 

OMIM

GeneLocusProtein
CYP27B112q13.3-q1425-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.

Loading...