Turnaround time
10 workdays
48.4
40
DNA test for the SNX14 variant c.2653+1G>A causing cerebellar cortical degeneration / NCCD in Vizsla.
Overview
This genetic test analyses the SNX14 variant c.2653+1G>A in the Vizsla. The condition is known as cerebellar cortical degeneration, CCD, neonatal cortical cerebellar degeneration, NCCD and cerebellar abiotrophy.
CCD/NCCD affects the cerebellum, the brain region important for coordination, balance and fine motor control. Affected Vizslas can develop progressive ataxia, exaggerated movements, wide stance, trunk sway, intention tremors, head tilt, nystagmus and loss of coordination from a young age.
The trait is autosomal recessive. G/G means the tested variant was not detected. G/A means carrier. A/A causes cerebellar cortical degeneration / NCCD and is reported as a genetically affected result.
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 / normal genotype (G/G)
The genotype G/G means the tested SNX14 variant was not detected. This dog does not develop this variant-linked form of cerebellar cortical degeneration / NCCD and does not pass the tested variant on.
Genotype / allele combination: Carrier / variant carrier (G/A)
The genotype G/A means the dog carries one copy of the tested SNX14 variant. One copy does not cause this autosomal recessive form, but the dog can pass the variant on. In breeding, combine only with a clear partner.
Genotype / allele combination: Affected or high-risk genotype (A/A)
The genotype A/A causes the tested variant-linked form of cerebellar cortical degeneration / NCCD. The dog has two copies of the variant and is genetically affected. This result is important for follow-up and breeding plans.
Sampling and submission guidelines





References