Turnaround time
10 workdays
48.4
40
DNA test for juvenile laryngeal paralysis and polyneuropathy, JLPP, NVSD and POANV in dogs, analysing RAB3GAP1 c.743delC.
Overview
This genetic test analyses the RAB3GAP1 c.743delC variant in dogs. The condition is known as juvenile laryngeal paralysis and polyneuropathy, JLPP, neuronal vacuolation and spinocerebellar degeneration, NVSD, polyneuropathy with ocular abnormalities and neuronal vacuolation, POANV and sometimes ALPP. RAB3GAP1 is involved in intracellular membrane trafficking and nerve cell communication.
JLPP is a severe juvenile neurodegenerative disorder. Puppies can develop signs from only a few months of age, including hind limb weakness, ataxia, altered bark, laryngeal paralysis, breathing difficulty and swallowing problems. Eye abnormalities such as cataracts or microphthalmia can be part of the picture. As the disease progresses, the risk of choking, aspiration pneumonia and severe respiratory distress increases strongly.
This condition is autosomal recessive. One copy makes a dog a carrier. Two copies of the c.743delC deletion cause the tested JLPP/NVSD/POANV genotype.
This test helps breeders identify carriers reliably and avoid matings that can produce affected puppies. That is essential for a severe condition in which puppies can develop early neurological and respiratory problems. The result supports targeted breeding selection, preservation of carrier lines through safe pairings, transparent communication with puppy buyers and faster genetic interpretation when young dogs show matching signs.
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 (N/N)
The tested RAB3GAP1 deletion was not detected. The dog is not a carrier of this deletion and will not pass it on.
Genotype / allele combination: Carrier (N/del)
The dog carries one copy of the tested RAB3GAP1 deletion. The dog is a carrier and can pass the deletion on; for breeding, pair with a clear-tested partner.
Genotype / allele combination: Affected genotype (del/del)
The dog has two copies of the tested RAB3GAP1 deletion. This genotype causes the tested autosomal recessive JLPP/NVSD/POANV condition, with severe neurological and respiratory problems at a young age.
Sampling and submission guidelines





References