Test Detail
Lagotto Romagnolo pack: prcd-PRA, Juvenile epilepsy (JE), Lysosomal storage disease (LSD), Furnishing and HUU/SLC
General · Dog
Multi-disease genetic panel for the Lagotto Romagnolo grouping five molecular tests: progressive retinal atrophy (prcd-PRA), juvenile epilepsy (JE), Lagotto lysosomal storage disease (LSD), furnishing (curly coat) and hyperuricosuria (HUU/SLC). Each condition or marker has its own molecular basis and inheritance. The panel is complementary to the ocular examination and neurological follow-up in breeding selection.
Incidence
Applicable breed: Lagotto Romagnolo. The prcd-PRA, SLC2A9 and RSPO2 variants are present in breeding lines; JE and LSD have a lower case count. Reliable carrier frequencies in the breeding population are not systematically published (limited data).
Breeder management
- Genotype breeding animals before mating; the panel covers five conditions/markers in a single sample
- For prcd-PRA, JE, LSD and HUU/SLC (recessive): do not mate two carriers — 25% risk of affected homozygotes; carrier × clear is safe for offspring intended for breeding if tested
- For furnishing (dominant): heterozygotes transmit the variant to 50% of the offspring; it guides the coat type of the litter
- While the JE and LSD genes are being confirmed, avoid mating affected animals and keep a genealogical record of lines with cases
- After a confirmed clinical case, do not repeat the parental mating and inform the buyer of the status
- For prcd-PRA, JE, LSD and HUU/SLC (recessive): do not mate two carriers — 25% risk of affected homozygotes; carrier × clear is safe for offspring intended for breeding if tested
- For furnishing (dominant): heterozygotes transmit the variant to 50% of the offspring; it guides the coat type of the litter
- While the JE and LSD genes are being confirmed, avoid mating affected animals and keep a genealogical record of lines with cases
- After a confirmed clinical case, do not repeat the parental mating and inform the buyer of the status
Specialist notes
prcd-PRA is confirmed by ocular examination and molecular test; annual examination (ECVO/CERF) complementary. JE must be differentiated from other genetic and acquired epilepsies (infectious, toxic, metabolic). LSD requires enzymatic and molecular study; the differential diagnosis includes other storage diseases. Urate urolithiasis must be differentiated from cystine and infectious urolithiasis — stone analysis is key.
References
1. Zangerl B et al. 2006, PRCD y prcd-PRA canina (PMID 16938425)
3. Seppälä EH et al. 2011, truncación de LGI2 y epilepsia focal remitente (PMID 21829378)
4. Kyöstilä MA et al. 2015, ATG4D y enfermedad lisosomal vacuolar neurodegenerativa (PMID 25875846)
5. Bannasch D et al. 2008, SLC2A9 e hiperuricosuria (PMID 18989453)
3. Seppälä EH et al. 2011, truncación de LGI2 y epilepsia focal remitente (PMID 21829378)
4. Kyöstilä MA et al. 2015, ATG4D y enfermedad lisosomal vacuolar neurodegenerativa (PMID 25875846)
5. Bannasch D et al. 2008, SLC2A9 e hiperuricosuria (PMID 18989453)