Test Detail

Upper airway syndrome (UAS) — Norwich terrier

General · Dog

Molecular test for upper airway syndrome (Upper Airway Syndrome, UAS) of the Norwich terrier, a hereditary respiratory condition with elongated soft palate, additional dorsal pharyngeal tissue and variable laryngeal collapse that causes dyspnoea and stridor. It affects the upper respiratory system and compromises exercise and quality of life. The test reports clear/carrier/affected status for the known risk variant.
Inheritance patternMode of inheritance not established. The ADAMTS3 c.2786G>A risk allele shows a dose-dependent association with UAS severity (frequency 0.57 in Norwich terriers; PMID 31095560). A simple Mendelian mode of inheritance has not been established.
Gene / MutationADAMTS3 c.2786G>A p.(Arg929His) (exon 20), a missense risk variant associated with UAS in the Norwich terrier (OMIA:001893; PMID 31095560).
PenetranceVariable penetrance and expression; anatomical and environmental factors (weight, craniofacial conformation, exercise, heat) modulate the severity of the condition.
Codenggl
Turnaround time15 days
Price52,60 €

Incidence

Applicable breed: Norwich terrier. In the genomic analysis of 401 Norwich terriers the risk allele frequency was 0.57 (Marchant et al. 2019, PMID 31095560); the allele is also enriched in English and French Bulldogs. No systematic clinical frequencies are published (limited data).

Breeder management

- Genotype breeding dogs before mating
- While the mode of inheritance is being confirmed, treat the molecular status with caution: avoid mating two animals with the variant or with a clinical respiratory history
- A clinically affected animal must not be bred; assess the respiratory phenotype of breeding dogs (rhinoscopy/laryngoscopy if appropriate)
- After a confirmed clinical case, do not repeat the parental mating and inform the buyer of the status

Specialist notes

Differential diagnosis with classic brachycephalic syndrome, tracheal collapse, laryngeal paralysis and nasal obstructive processes (foreign bodies, neoplasia). Rhinoscopy/laryngoscopy and assessment under sedation guide the diagnosis. Medical management (weight control, avoiding heat/excitement) and surgical management (rhinoplasty, palatoplasty, arytenoidopexy depending on grade).

References

1. Marchant TW, Dietschi E, Rytz U, et al. (2019) An ADAMTS3 missense variant is associated with Norwich Terrier upper airway syndrome. PLoS Genet 15:e1008102. PMID: 31095560

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