Turnaround time
10 workdays
48.4
40
Genetic test for the PRKDC c.9478_9482del deletion that causes severe combined immunodeficiency in Arabian horses.
Overview
This genetic test detects the PRKDC deletion c.9478_9482del that causes severe combined immunodeficiency, also known as SCID or Severe Combined Immunodeficiency Disease, in Arabian horses and related lines.
Affected foals are often born looking normal, but they lack a properly functioning immune system. Infections such as pneumonia and diarrhoea can therefore become severe very quickly. The disorder is autosomal recessive: carriers are healthy themselves, but can pass the variant to offspring.
The result helps breeders reliably identify carriers and plan matings that avoid affected foals. For owners and veterinarians it provides clear genetic information when young foals show severe susceptibility to infections.
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: N/N - clear for the tested SCID variant
The horse does not carry the tested PRKDC deletion. It will not develop SCID from this variant and will not pass this tested variant to offspring.
Genotype / allele combination: N/del - carrier
The horse carries one copy of the PRKDC deletion. It is a carrier and remains free of autosomal recessive SCID itself, but can pass the variant to about half of its offspring.
Genotype / allele combination: del/del - SCID
The horse has two copies of the PRKDC deletion. This genotype causes SCID: affected foals lack a functioning immune system and develop severe, life-threatening infections.
Sampling and submission guidelines







References