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Lithuania

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Dog DNA testing illustration

Prekallikrein Deficiency (KLK)

Code: H439

74,72 €

Sample details

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

Search by our number or the laboratory number. An unmatched number is saved as a previous / external reference. No new physical sample is needed.
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Short description

Prekallikrein deficiency (PK or KLK) is an uncommon disorder in dogs caused by a mutation in the KLKB1 gene.

General information

Prekallikrein deficiency (PK or KLK) is an uncommon disorder in dogs caused by a mutation in the KLKB1 gene.

Specifications

Breeds

Shih-Tzu
Gene

KLKB1
Chromosome

16
Mutation

c.988T>A
Organ

Cardiovascular System
Specimen

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

Autosomal Recessive

Clinical features

Symptoms include a suspicion of neurological defects and a prolonged activated partial thromboplastin time (aPTT) and normal prothrombin time (PT) with no hemostatic defects.

Additional information

PK and FXII deficiency are known to interact with each other, leading to acceleration of contact phase activation. Which indicates that simultaneous deficiency of both factors could cause the clinical symptoms, even when sole deficiency of FXII or PK does not show any symptoms.

References

Pubmed ID: 20736516

Year published: 2011

Omia ID: 819

Omia variant ID:

Turnaround information

  • 15 working days