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Dog DNA testing illustration

Hypophosphatasia

Code: H636

74,72 €

Sample details

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

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Short description

Hypophosphatasia is a severe skeletal disorder which affects the Karelian Bear Dog, and causes poor bone structure and retarded growth.

General information

Hypophosphatasia is a severe skeletal disorder which affects the Karelian Bear Dog, and causes poor bone structure and retarded growth. It is caused by a recessive mutation to the gene ALPL.

Specifications

Breeds

Karelian Bear Dog
Gene

ALPL
Chromosome

2
Mutation

c.1301T>G
Organ

Skeletal system
Specimen

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

Autosomal Recessive
Also known as

HPP

Clinical features

Affected puppies start falling behind in growth with respect to their littermates by the age of 7 to 10 weeks. They also have difficulty moving, with muscle weakness, a crouched stance and deformed bones and joints. The affected dog may die within the first 10 weeks of life; if not, euthanasia on humane grounds may be necessary due to the severity of symptoms.

References

Pubmed ID: 30700765

Year published: 2019

Omia ID: 2162

Omia variant ID:

Turnaround information

  • 15 working days