Test Detail

Great Swiss Mountain Dog pack: Postoperative haemorrhage (P2Y12), Hyperuricosuria (HUU/SLC), DM exon 2 and D-locus d1 (dilution)

General · Dog

Multidisease genetic panel for the Great Swiss Mountain Dog grouping four molecular tests: postoperative haemorrhage (P2Y12), hyperuricosuria (HUU/SLC), degenerative myelopathy (DM exon 2) and the D-locus coat dilution marker d1. The panel combines clinical conditions with a marker useful for breeding. The molecular test is complementary to haemostatic assessment in reproductive selection.
Inheritance patternMixed: P2Y12 — autosomal recessive. MH — autosomal dominant with variable penetrance.
Gene / MutationP2RY12 c.516_518del p.(Ser173del) (P2Y12); SLC2A9 (HUU/SLC); SOD1 exon 2 (DM); MLPH, d1 variant (D-locus d1).
PenetranceP2Y12: variable penetrance — homozygotes are at risk of postoperative haemorrhage but the presentation depends on the type of procedure.
Codepsek
Turnaround time15 days
Price126,89 €

Incidence

Applicable breed: Great Swiss Mountain Dog. The SLC2A9 variant has no published frequencies in the breed; P2Y12 haemorrhage has a smaller case series (limited data). 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/markers in a single sample\n- For P2Y12, HUU/SLC and DM (recessive): do not mate two carriers — 25% risk of affected homozygotes; carrier×clear is safe for offspring intended for breeding if tested\n- For DM: do not breed homozygotes; carriers only with clear animals and test the offspring\n- For D-locus d1: guides coat colour prediction; it does not imply disease\n- After a confirmed clinical case, do not repeat the parental mating and communicate the status to the buyer

Specialist notes

Postoperative haemorrhage (P2Y12) requires specific haemostatic protocols in elective surgery of homozygotes and carriers; consider platelet function testing before the procedure. zantes. Have i.v. dantrolene available in the operating theatre in case of any suspicion. Urate urolithiasis must be distinguished from cystine and infectious urolithiasis — stone analysis is key. DM is a diagnosis of exclusion: rule out spinal cord compression and intervertebral disc herniation before attributing the condition to SOD1.

References

4. Bannasch D et al. 2008, SLC2A9 e hiperuricosuria canina (PMID 18989453)
5. Awano T et al. 2009, SOD1 exĂłn 2 y mielopatĂ­a degenerativa (PMID 19188595)

Tests included in this pack (4)

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