Turnaround time
10 workdays
48.4
40
DNA test for Alexander disease / AxD in Labrador Retrievers, analysing GFAP c.719G>A.
Overview
This genetic test analyses the GFAP variant c.719G>A in the Labrador Retriever. The condition is known as Alexander disease, AxD, fibrinoid leukodystrophy and fibrinoid encephalomyelopathy.
GFAP encodes glial fibrillary acidic protein, a structural protein in astrocytes of the central nervous system. A disease-causing GFAP variant disrupts support of nervous tissue and can lead to a severe, progressive neurodegenerative disorder. In young dogs, early signs may include ataxia, loss of balance, head tilt, knuckling, nystagmus and sensitivity to touch.
As the condition progresses, hindlimb weakness, paresis, stiffness, muscle atrophy, swallowing difficulty, regurgitation, altered voice and myoclonic jerks can occur. Because AxD in dogs is serious and progressive, genetic identification is especially valuable in breeding lines and in young dogs with compatible neurological signs.
The GFAP variant follows autosomal dominant inheritance. One copy of the variant is already relevant for the condition and can be passed to offspring. A clear result means this specific GFAP variant was not detected.
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: GG - clear of the tested GFAP variant
This dog has no copy of the tested GFAP variant and will not pass this specific variant to offspring.
Genotype / allele combination: GA - one copy of the tested GFAP variant
This dog has one copy of the tested GFAP variant. In a dominant GFAP condition, one copy is already important for disease and breeding interpretation.
Genotype / allele combination: AA - two copies of the tested GFAP variant
This dog has two copies of the tested GFAP variant. This is a strongly variant-positive result for a dominant GFAP condition and calls for focused breeding and health interpretation.
Sampling and submission guidelines





References