Mucopolysaccharidosis VI / MPS VI / Maroteaux-Lamy (ARSB-related) - Great Dane

What does this test examine?

This genetic test analyses the ARSB variant c.295C>T in Great Danes. The disorder is also known as mucopolysaccharidosis type VI, MPS VI and Maroteaux-Lamy syndrome. The variant disrupts arylsulfatase B function, so glycosaminoglycans are not broken down properly and can accumulate in lysosomes.

What does this disorder mean?

Affected Great Danes can develop serious signs at a young age, including stunted growth, abnormal limb posture or curvature, skeletal deformities, corneal clouding, muscle weakness and abnormal respiratory sounds. Because MPS VI is progressive, early genetic identification is especially useful for avoiding risk pairings in breeding.

Inheritance and result

The trait is inherited in an autosomal recessive manner. This means the combination of two altered copies is clinically important, while carriers can look healthy and still matter genetically for breeding.

• Clear: no copies of the tested variant detected.
• Carrier: one normal and one altered copy; the dog can pass the variant on.
• Affected: two altered copies; this genotype causes the variant-specific disorder.

Practical value of this test

The result supports targeted breeding: clear dogs, carriers and genetically affected dogs are clearly separated. This helps breeders avoid risk matings, manage carriers responsibly within a line and strongly reduce the chance of affected puppies without unnecessarily losing valuable genetic diversity.

• supports breeding selection and mating planning
• makes hidden carriers visible
• helps reduce the risk of affected puppies in a targeted way