Turnaround time
10 workdays
48.4
40
DNA test for the GP9 c.127_*2052del deletion that causes Bernard-Soulier syndrome / BSS of the Cocker Spaniel type.
Overview
This genetic test detects the GP9 c.127_*2052del deletion that causes Bernard-Soulier syndrome. The condition is also known as BSS, macrothrombocytopenia or an inherited platelet disorder of the Cocker Spaniel type.
GP9 forms part of the platelet receptor complex needed for normal blood clotting. Affected dogs have large, poorly functioning platelets and an increased tendency to bleed. This can appear as bruising, nosebleeds, prolonged bleeding after injury, dental procedures or surgery.
This form of BSS follows an autosomal recessive inheritance pattern. Two copies of the deletion cause the disease; one copy makes the dog a carrier.
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 / no tested variant (N/N)
The dog does not carry the tested variant. This genotype does not cause Bernard-Soulier syndrome and will not pass this variant to offspring.
Genotype / allele combination: Carrier / one copy (N/del)
The dog carries one copy of the tested variant. One copy does not cause Bernard-Soulier syndrome, but the variant can be passed on. Mate carriers only to dogs tested clear.
Genotype / allele combination: Affected / two copies (del/del)
The dog carries two copies of the tested variant. This genotype causes Bernard-Soulier syndrome; the dog will pass the variant to all offspring.
Sampling and submission guidelines





References