Lagotto Romagnolo Pack: Progressive Retinal Atrophy (prcd-PRA), Juvenile Epilepsy (JE), Lagotto Lysosomal Storage Disease (LSD), Furnishing (Wire Coat), Hyperuricosuria (HUU/SLC)
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Panel genético multienfermedad para el Lagotto romagnolo que agrupa cinco pruebas moleculares: atrofia progresiva de retina (prcd-PRA), epilepsia juvenil (JE), enfermedad de almacenamiento lisosomal del lagotto (LSD), furnishing (pelo duro) e hiperuricosuria (HUU/SLC). Cada condición o marcador tiene base molecular y herencia propia. El panel es complementario del examen ocular y del seguimiento neurológico en la selección reproductiva.
Diseases included in this pack
Lagotto Storage Disease (LSD) (Autosomal recessive.)
Vacuolar neurodegenerative disease of the Lagotto Romagnolo, caused by a missense mutation in the ATG4D gene, which encodes a cysteine protease involved in macroautophagy. It causes progressive cerebellar ataxia, sometimes with episodic nystagmus and behavioural changes, and is characterised histologically by neuron…
Hyperuricosuria (SLC) (Autosomal recessive)
Hyperuricosuria is a defect of renal uric acid transport caused by a variant of the SLC2A9 gene, historically described as G616T (p.Cys188Phe) and also noted as Cys181Phe depending on the reference transcript. It increases urinary urate excretion and the risk of urate uroliths. The Dalmatian is the paradigmatic breed.
Canine Progressive Retinal Atrophy (prcd-PRA) (Autosomal recessive)
Inherited degeneration of the retinal photoreceptors. It begins by affecting the rods (night blindness, difficulty in low light) and progresses toward total vision loss in the medium to long term. It is the most common form of progressive retinal atrophy in dogs and is painless, so it is usually detected late, when…
Furnishing / wiry coat (RSPO2) (Autosomal trait with variable expression (not a disease); associated with the RSPO2 variant)
A coat variant associated with 'furnishings' (moustache and eyebrows) and facial wire hair in the dog, caused by a 167 bp insertion in the 3'UTR region of the RSPO2 gene. It is not a disease, but a morphological trait with variable expression. The test reports the genotype for the variant.
Juvenile Epilepsy (JE) (Autosomal dominant with incomplete penetrance (imperfect Mendelian inheritance): in ~93 % of affected animals homozygosity of the mutated allele is required, in ~7 % heterozygosity is enough, and ~1.8 % of homozygotes do not have seizures.)
Benign juvenile epilepsy of the Lagotto romagnolo, with imperfect Mendelian inheritance (autosomal dominant with incomplete penetrance) and caused by a loss-of-function mutation in LGI2. It presents with focal seizures of very early onset (5-9 weeks) and resolves spontaneously by around 4 months in most puppies. It…
Frequently asked questions
What does this pack include?
It includes 5 hereditary disease tests: Lagotto Storage Disease (LSD), Hyperuricosuria (SLC), Canine Progressive Retinal Atrophy (prcd-PRA), Furnishing / wiry coat (RSPO2)…. All are analysed in our laboratory.
What do the results mean?
The report shows the genotype and inheritance pattern of each variant. It is a breeding-decision tool: it guides which crosses to avoid, it does not guarantee the absence of disease.
How is the sample taken?
Buccal swab or 0.5–1 ml EDTA blood. The kit ships free to Spain, the EU and the UK.
