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Dog DNA testing illustration

Lagotto Storage Disease (LSD)

Code: H627

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

Lagotto Storage Disease is a metabolic disorder that is caused by enzyme deficiencies within the lysosome, resulting in the accumulation of undegraded substrates.

General information

Lagotto Storage Disease is a metabolic disorder that is caused by enzyme deficiencies within the lysosome, resulting in the accumulation of undegraded substrates. The disorder is also known as Lysosomal Storage Disease (LSD), aberrant autophagy or Neurodegenerative Vacuolar Storage Disease. An autosomal recessive mutation in the ATG4D gene causes this LSD, which is observed in the Lagotto Romagnolo.

Specifications

Breeds

Lagotto Romagnolo
Gene

ATG4D
Chromosome

20
Mutation

c.1288G>A
Organ

Nervous System
Specimen

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

Autosomal Recessive
Also known as

Lagotto storage disease; LSD; Aberrant Autophagy

Clinical features

The typical clinical sign in affected dogs is progressive ataxia with occasional nystagmus and behavioral abnormalities.

References

Pubmed ID: 25875846

Year published: 2015

Omia ID: 1954

Omia variant ID:

Turnaround information

  • 15 working days