Test Detail
Pack Pug: Pyruvate kinase deficiency (PK), Primary lens luxation (PLL), Necrotizing meningoencephalitis (NME/PDE) and DM exon 2
General · Dog
Multidisease genetic panel for the Pug that brings together four molecular tests: pyruvate kinase deficiency (PK), primary lens luxation (PLL), necrotizing meningoencephalitis / small dog disease (NME/PDE) and degenerative myelopathy (DM exon 2). Each condition has its own molecular basis and inheritance. The panel is complementary to hematological, ophthalmological and neurological follow-up in breeding selection.
Incidence
Applicable breed: Pug. The PKLR and ADAMTS17 variants have no published frequencies in the breed; the frequency of the risk haplotype for NME/PDE is high in the breed, but the clinical disease has a low incidence. Reliable carrier frequencies in the breeding population are not published systematically (limited data).
Breeder management
- Genotype breeding animals before mating; the panel covers four conditions in a single sample
- For PK (recessive): do not mate two carriers — 25% risk of affected homozygotes; carrier×clear is safe for offspring intended for breeding if tested
- For PLL (dominant): heterozygotes transmit the variant to 50% of the offspring; prioritize clear animals for breeding
- For NME/PDE: the absence of the risk haplotype does not guarantee protection; avoid mating two animals with a high-risk haplotype
- For DM: do not breed homozygotes; also assess back conformation so as not to confuse with confluent myelopathy
- After a confirmed clinical case, do not repeat the parental mating and communicate the status to the buyer
- For PK (recessive): do not mate two carriers — 25% risk of affected homozygotes; carrier×clear is safe for offspring intended for breeding if tested
- For PLL (dominant): heterozygotes transmit the variant to 50% of the offspring; prioritize clear animals for breeding
- For NME/PDE: the absence of the risk haplotype does not guarantee protection; avoid mating two animals with a high-risk haplotype
- For DM: do not breed homozygotes; also assess back conformation so as not to confuse with confluent myelopathy
- After a confirmed clinical case, do not repeat the parental mating and communicate the status to the buyer
Specialist notes
PLL must be differentiated from traumatic luxation or luxation secondary to uveitis. NME/PDE is a diagnosis of exclusion with MRI and CSF; the risk haplotype does not confirm the disease. DM in the Pug is controversial: SOD1 homozygotes may have conditions overlapping with confluent myelopathy, hemivertebrae and other malformations — always rule out spinal cord compression before attributing the condition to SOD1.
References
1. Gultekin GI et al. 2012, mutaciones de piruvato quinasa eritrocÃtica en perros (PMID 22805166)
3. ADAMTS17 y luxación primaria de lente: mutación extendida entre razas (PMID 22050825); frecuencia del alelo (PMID 34870369)
4. Greer KA et al. 2010, meningoencefalitis necrotizante del Carlino asociada a DLA clase II (PMID 20403140)
5. Awano T et al. 2009, SOD1 exón 2 y mielopatÃa degenerativa (PMID 19188595)
3. ADAMTS17 y luxación primaria de lente: mutación extendida entre razas (PMID 22050825); frecuencia del alelo (PMID 34870369)
4. Greer KA et al. 2010, meningoencefalitis necrotizante del Carlino asociada a DLA clase II (PMID 20403140)
5. Awano T et al. 2009, SOD1 exón 2 y mielopatÃa degenerativa (PMID 19188595)