Turnaround time
10 workdays
48.4
40
Genetic test for the COL4A5 c.3079G>T variant for X-linked hereditary nephritis, HN and Alport syndrome in the Samoyed.
Overview
This genetic test analyses the COL4A5 variant c.3079G>T for X-linked hereditary nephritis in the Samoyed. The condition is also known as HN, X-linked hereditary nephritis, Samoyed hereditary glomerulopathy, glomerulonephritis and Alport syndrome. The test determines whether the dog carries the tested X-linked COL4A5 variant.
COL4A5 encodes a component of type IV collagen, which is important for the glomerular basement membrane in the kidney. Males with the affected genotype can develop proteinuria, progressive kidney damage and renal failure at a young age. Females carrying one copy can show variable expression, which makes carrier identification relevant for both breeding plans and health follow-up.
The condition is inherited as X-linked. A dog without the variant has G/G or G/Y. A female with G/T carries one copy of the variant. A dog with T/T or T/Y has the affected genotype; hemizygous males with T/Y are especially at risk of severe early kidney disease.
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: G/G / G/Y - clear
This dog does not carry the tested COL4A5 variant. This result rules out this Samoyed variant and the dog will not pass it on.
Genotype / allele combination: G/T - carrier
This female carries one copy of the COL4A5 variant. She can pass the variant on and may, depending on X inactivation and individual context, develop kidney changes herself.
Genotype / allele combination: T/T / T/Y - affected
This dog has the affected COL4A5 genotype. A male with T/Y in particular develops X-linked hereditary nephritis with a high risk of early progressive kidney disease.
Sampling and submission guidelines





References