DNA & genetic tests
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Juvenile laryngeal paralysis and polyneuropathy / JLPP (RAB3GAP1-related) - Dog

DNA test for juvenile laryngeal paralysis and polyneuropathy, JLPP, NVSD and POANV in dogs, analysing RAB3GAP1 c.743delC.

Turnaround time
10 workdays
test Methods
Sequencing
Test code
PVT-5BD379C1FAB1
Species
Dog
Breeds
Black Russian Terrier, Rottweiler
Matrices
Blood, Blood (EDTA), Blood (Heparin), Swab, Tissue

Overview

What does this test analyse?

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.

What does this neurological condition mean?

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.

Inheritance and result

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.

Result at a glance

  • N/N - the tested deletion was not detected.
  • N/del - carrier; one copy of the deletion is present.
  • del/del - two copies of the deletion; this genotype causes the tested recessive condition.

Practical value of this test

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:

  • Juvenile laryngeal paralysis and polyneuropathy / JLPP (RAB3GAP1-related) - Dog

Allele combinations & result interpretations

Sampling and submission guidelines

References