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Gordon Setter pack: Hereditary ataxia (HA) and rcd4-PRA

General · Dog

Multi-disease genetic panel for the Gordon Setter grouping two molecular tests for hereditary conditions described in the breed: hereditary ataxia (HA) and rcd4-PRA progressive retinal atrophy. Each condition has its own molecular basis and inheritance. The panel is complementary to the ocular and neurological examination in breeding selection.
Inheritance patternMixed: HA and rcd4-PRA — autosomal recessive.
Gene / MutationRAB24 c.113A>C p.(Gln38Pro) (HA); C2orf71/PCARE (rcd4-PRA).
PenetranceHA: high penetrance in homozygotes with variable onset and progressive course. rcd4-PRA: high penetrance in homozygotes with late onset.
Sample typesangre con EDTA 1mL
Codebesa
Turnaround time15 days
Price110,73 €
BreedsGordon setter

Incidence

Applicable breed: Gordon Setter. HA (RAB24) and rcd4-PRA (C2orf71) documented in the breed. Carrier frequencies: limited data.

Clinical signs

- Progressive ataxia, tremor and cerebellar signs from a young age/adult (HA)
- Limb incoordination with progressive worsening (HA)
- Reduced night vision and progressive retinal atrophy (rcd4-PRA)
- Progressive blindness with altered fundus
- Progressive neurological signs: myoclonus, behavioral deterioration, ataxia (NCL)

History

Hereditary ataxia of the Gordon Setter was associated with RAB24 (Agler 2014), with a haplotype shared with the Old English Sheepdog due to a founder effect. rcd4-PRA (C2orf71/PCARE) is documented in the Gordon Setter and Irish Setter (Downs 2013).

Breeder management

- Genotype breeding animals before mating; the panel covers two conditions in a single sample
- For both conditions (recessive): do not mate two carriers — 25% risk of homozygous affected; carrier×clear is safe for offspring intended for breeding if tested
- While the HA and rcd4-PRA 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 communicate the status to the buyer

Specialist notes

HA must be differentiated from other cerebellar ataxias and from acquired causes (infectious, toxic, neoplastic, vitamin E deficiency). rcd4-PRA is confirmed by ocular examination and molecular test; annual examination (ECVO/CERF) complementary.

References

1. Agler C et al. 2014, ataxia hereditaria por RAB24 en Bobtail y Gordon setter (PMID 24516392)
2. Downs LM et al. 2013, PRA de inicio tardío por C2orf71 en Gordon e Irish setter (PMID 22686255)

Tests included in this pack (2)

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Price: 110,73 € · Turnaround time: 15 days

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