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H092

Subacute Necrotizing Encephalopathy (SNE) in the Yorkshire Terrier is a hereditary neurological disorder caused by an autosomal recessive mutation in the Solute Carrier Family 19 Member 3 (SLC19A3) gene.

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Specifications

Breeds

Gene

Chromosome

25

Mutation

c.205_210delinsN[35]

Organ

Specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

Autosomal Recessive

General information

Subacute Necrotizing Encephalopathy (SNE) in the Yorkshire Terrier is a hereditary neurological disorder caused by an autosomal recessive mutation in the Solute Carrier Family 19 Member 3 (SLC19A3) gene. This gene is involved in the transport of thiamine (vitamin B1) into cells, which is essential for normal energy metabolism in the brain. When SLC19A3 function is impaired, neuronal cells cannot efficiently utilize energy, leading to progressive neurological dysfunction.

Clinical features

Affected dogs typically develop clinical signs in early life, often within the first months to years. Neurological signs may include seizures, ataxia (loss of coordination), behavioral changes, altered mentation, and progressive neurological decline. As the disease progresses, affected dogs may show worsening motor function, difficulty walking, and episodes of collapse. The condition is progressive and can severely impact quality of life, often leading to significant neurological impairment over time.

Additional information

References

Pubmed ID: 33081289

Year published: 2020

Omia ID: 1097

Omia variant ID:

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2. Collect DNA sample

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3. Results

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