Turnaround time
10 workdays
48.4
40
DNA test for the DMD c.531-2A>G variant that causes Golden Retriever muscular dystrophy / GRMD in the Golden Retriever.
Overview
This genetic test examines the DMD variant c.531-2A>G in the Golden Retriever. The test is used for Golden Retriever muscular dystrophy / GRMD. The condition is also known as DD-MD, X-linked muscular dystrophy, dystrophin-deficient muscular dystrophy, Duchenne-type muscular dystrophy and DMD.
GRMD is the classic canine form of Duchenne-type muscular dystrophy. The DMD variant disrupts normal dystrophin production, making muscle fibres fragile and progressively damaged. Affected males develop severe muscle weakness, abnormal gait, swallowing or breathing problems and increasing muscle damage.
This test is important for Golden Retriever breeders because carrier females can appear normal while producing affected males. The result makes it possible to identify carriers directly and avoid risk matings.
This condition is inherited in an X-linked recessive manner. A dog with A/A or A/Y does not carry the variant. A female with A/G is a carrier. A male with G/Y or a female with G/G has the genotype that causes GRMD.
Included subanalyses
This analysis includes the following subanalysis:
Allele combinations & result interpretations
Below, for each tested locus, you will find the possible allele combinations that may be reported within this analysis, together with a brief explanation of their genetic meaning. The interpretation of possible interactions between different loci is included in the report, but is not shown here in full because that would lead to too many combinations on this page. The final expression may also depend on other genes and their interaction.
Genotype / allele combination: A/A; A/Y - clear for the tested DMD variant
The dog does not carry the tested DMD c.531-2A>G variant and will not pass this variant to offspring.
Genotype / allele combination: A/G - female carrier of the tested DMD variant
The dog carries one copy of the X-linked DMD variant. In a female this means carrier status; she can pass the variant to sons and daughters. Males carrying the variant are interpreted as affected.
Genotype / allele combination: G/Y; G/G - genetically affected for GRMD
The dog has the genotype that causes X-linked GRMD. In males, one variant copy is enough to cause disease; in females, this result is rare but serious when two variant copies are present.
Sampling and submission guidelines





References