Turnaround time
10 workdays
48.4
40
DNA test for the CAPN1 c.344G>A variant for late onset ataxie / SCA in the Jack Russell Terrier en Parson Russell Terrier.
Overview
This genetic test analyses the CAPN1 variant c.344G>A in the Jack Russell Terrier en Parson Russell Terrier. The condition is known as late onset ataxie / SCA, also called LOA, late onset ataxia, spinocerebellar ataxia, hereditary ataxia and SCA.
This form of ataxia causes increasing disturbance of coordination and movement. In Russell Terriers, the hindquarters can become especially uncoordinated, with a dancing or prancing gait.
This test is especially useful because ataxia in Russell Terriers can be genetically heterogeneous. A targeted CAPN1 test gives concrete information for selection, line management and avoiding affected puppies.
The condition is inherited as an autosomal recessive disorder: two copies cause disease, while one copy means carrier status. By pairing carriers with clear-tested partners, the variant can be managed responsibly.
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: Clear (G/G)
The tested CAPN1 variant was not detected. The dog is not a carrier of this variant and will not pass it on.
Genotype / allele combination: Carrier (G/A)
The dog carries one copy of the tested CAPN1 variant. The dog is a carrier and can pass the variant on; for breeding, pair with a clear-tested partner.
Genotype / allele combination: Affected genetic genotype (A/A)
The dog has two copies of the tested CAPN1 variant. This genotype causes late onset ataxia / spinocerebellar ataxia; use this result to avoid risk matings in breeding.
Sampling and submission guidelines





References