Test Detail

Bull Terrier Pack: Laryngeal Paralysis (LP), Lethal Acrodermatitis (LAD) and Primary Lens Luxation (PLL)

General · Dog

Genetic panel for the Bull Terrier that groups three molecular tests for hereditary diseases described in the breed: hereditary laryngeal paralysis (LP), lethal acrodermatitis (LAD) and primary lens luxation (PLL). Each condition has a distinct molecular basis and its own inheritance pattern. The panel makes it possible to identify carriers and plan matings while minimising the appearance of affected animals; it does not replace ocular examination or clinical respiratory assessment.
Inheritance patternMixed: LAD — autosomal recessive; PLL — autosomal recessive (Farias 2010; OMIA:000588-9615); LP — multifactorial with a recessive risk allele and incomplete penetrance (OMIA:002222-9615).
Gene / MutationMKLN1 c.400+3A>C (LAD; OMIA:002146-9615); ADAMTS17 c.1473+1G>A (PLL; OMIA:000588-9615); RAPGEF6 c.1793_1794ins36 (LP, risk factor; OMIA:002222-9615).
PenetranceLAD: homozygotes develop the disease, which has a severe and lethal course; heterozygotes are healthy. PLL: high in homozygotes for the classic variant; heterozygotes are usually asymptomatic. LP: incomplete penetrance; homozygosity confers a 10- to 17-fold increase in risk, but not all homozygotes develop laryngeal paralysis.
Codeyqhy
Turnaround time15 days
Price121,13 €

Incidence

Applicable breed: Bull Terrier (also Miniature Bull Terrier for PLL). Carrier frequencies in the breeding population are not reliably published (limited data).

Breeder management

- Genotype breeding animals before mating; the panel covers three conditions in a single sample
- For LAD (recessive): do not mate two carriers — 25% risk of affected homozygotes with early death; carrier×clear is safe for offspring intended for breeding if tested
- For PLL (autosomal recessive): do not mate two carriers; prioritise clear animals for breeding and perform annual ophthalmological assessment
- For LP: the RAPGEF6 variant is a major risk factor in a multifactorial trait; 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 communicate the status to the buyer

Specialist notes

LP must be differentiated from idiopathic laryngeal paralysis of the elderly and from secondary forms (neurological, traumatic, hypothyroidism). LAD has a differential diagnosis with juvenile demodicosis, juvenile pemphigoid and dermatophytosis; biopsy and the molecular test confirm it. PLL must be differentiated from traumatic luxation or luxation secondary to uveitis/glaucoma. Annual ocular examination (ECVO/CERF) in all breeding animals.

References

1. Bauer A et al. 2018. MKLN1 splicing defect in dogs with lethal acrodermatitis. PLoS Genet. PMID: 29565995. 2. Farias FH et al. 2010. An ADAMTS17 splice donor site mutation in dogs with primary lens luxation. Invest Ophthalmol Vis Sci. PMID: 20375329. 3. Gould D et al. 2011. ADAMTS17 mutation associated with primary lens luxation is widespread among breeds. Vet Ophthalmol. PMID: 22050825. 4. Hadji Rasouliha S et al. 2019. A RAPGEF6 variant constitutes a major risk factor for laryngeal paralysis in dogs. PLoS Genet. PMID: 31647804. OMIA:002146-9615, OMIA:000588-9615, OMIA:002222-9615.

Tests included in this pack (3)

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