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Cat DNA testing illustration

Vitamin D-Resistant Rickets (VDR) – Cat

Code: K641

74,72 €

Sample details

One test – one sample. Animal and owner details are optional.

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Short description

Vitamin D-Resistant Rickets (VDR) is a bone disease caused by an enzymatic pathway defect.

General information

Vitamin D-Resistant Rickets (VDR) is a bone disease caused by an enzymatic pathway defect. Rickets, also known as osteomalacia, is usually due to a lack of vitamin D or calcium, which can occur because of environmental and/or genetic factors. VDR causes symptoms that look the same as seen in individuals suffering from non-genetic lack of vitamin D.

Specifications

Breeds

All Breeds
Gene

CYP27B1
Chromosome

B4
Mutation

c.637G>T
Organ

Skeletal system
Specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue
Mode of Inheritance

Autosomal Recessive

Clinical features

The symptoms are the same as those observed in non-genetic vitamin D deficiency, which usually result from a dietary calcium shortage. This leads to poor bone mineralization and eventually to skeletal deformities, pathologic fractures and delayed tooth development.

References

Pubmed ID: 22553308

Year published: 2012

Omia ID: 837

Omia variant ID:

Turnaround information

  • 15 working days