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Dog DNA testing illustration

Diffuse Cystic Renal Dysplasia and Hepatic Fibrosis

Code: H952

74,72 €

Sample details

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

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Short description

In the Norwich Terrier, a recessive mutation to the gene INPP5E causes a severe kidney disorder known as diffuse cystic renal dysplasia with hepatic fibrosis.

General information

In the Norwich Terrier, a recessive mutation to the gene INPP5E causes a severe kidney disorder known as diffuse cystic renal dysplasia with hepatic fibrosis. The disease is lethal to affected puppies.

Specifications

Breeds

Norwich Terrier
Gene

INPP5E
Chromosome

9
Mutation

c.1572+5G>A
Organ

Urinary system
Specimen

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

Autosomal Recessive

Clinical features

Affected puppies are born with damaged, dysfunctional kidneys and die within days from kidney or respiratory failure.

References

Pubmed ID: 30235266

Year published: 2018

Omia ID: 2173

Omia variant ID:

Turnaround information

  • 15 working days