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Dog DNA testing illustration

Lysosomal Storage Disease (LSD) – Dalmatian

Code: H272

74,72 €

Sample details

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

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Short description

Lysosomal Storage Diseases (LSDs) are genetic disorders where the body can't fully break down certain large molecules.

General information

Lysosomal Storage Diseases (LSDs) are genetic disorders where the body can’t fully break down certain large molecules. These molecules build up inside cell structures called lysosomes, causing ongoing damage, especially to the nervous system. In Dalmatian dogs, an autosomal dominant mutation with an incomplete penetrance in the CNP gene is linked to this lysosomal storage disease, resulting in slowly progressing symptoms.

Specifications

Breeds

Dalmatian
Gene

CNP
Chromosome

9
Mutation

c.1107del
Organ

Nervous System
Specimen

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

Autosomal Incomplete Dominant
Also known as

LSD

Clinical features

Symptoms in affected Dalmatian dogs include neurological abnormalities (abnormal behaviour, cognitive decline, anxiety), developmental delays, organ enlargement, skeletal and eye abnormalities, and reduced life expectancy. Clinical signs typically manifest around 18 months of age, with neurological abnormalities and brain atrophy observed. Some heterozygous dogs may show milder, later-onset symptoms.

References

Pubmed ID: 35447247

Year published: 2022

Omia ID: 2591

Omia variant ID:

Turnaround information

  • 15 working days