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Dog DNA testing illustration

Mucopolysaccharidosis IIIB (MPS3B) – Schipperke

Code: H137

74,72 €

Sample details

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

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Short description

Mucopolysaccharidosis (MPS) is a class of metabolic disorders that typically cause severe neurological problems and other developmental issues.

General information

Mucopolysaccharidosis (MPS) is a class of metabolic disorders that typically cause severe neurological problems and other developmental issues. This test analyses a variant of Mucopolysaccharidosis type IIIB (also called MPS3B or Sanfilippo Syndrome type B) found in the Schipperke. This variant is caused by a recessive defect to the gene NAGLU.

Specifications

Breeds

Schipperke
Gene

NAGLU
Chromosome

9
Mutation

c.2110_2111ins[A(40_70);2100_2110]
Organ

Nervous System
Specimen

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

Autosomal Recessive
Also known as

MPS IIIB, MPS3B, MPS 3B and MPSIIIB

Clinical features

Onset of MPS IIIB typically starts around two years of age. Symptoms include ataxia (a lack of coordination) with dysmetria (an inability to judge distances while walking or otherwise moving), a wide stance and minor degeneration of the retinas. Symptoms gradually progress in severity, often leading to euthanasia being required before six years of age.

References

Pubmed ID: 32081995

Year published: 2020

Omia ID: 1342

Omia variant ID:

Turnaround information

  • 20 working days