Test Detail
Landseer pack: Cystinuria, Muscular dystrophy (MD), D-locus d1 (dilution), DM exon 2 and Thrombopathy
General · Dog
Multi-disease genetic panel for the Landseer grouping five molecular tests: cystinuria, muscular dystrophy (MD), D-locus d1 (coat dilution), degenerative myelopathy (DM exon 2) and thrombopathy. The panel combines urinary, neuromuscular, haemostatic and coat-marker conditions. The molecular test is complementary to haemostatic, neuromuscular and urological assessment in breeding selection.
Incidence
Applicable breed: Landseer. The SLC3A1 c.586C>T variant is documented in the Newfoundland and Landseer; the COL6A1 variant was not detected in 404 Newfoundlands or in 473 dogs of other breeds (Steffen et al. 2015); the Landseer RASGRP2 variant is documented in the breed. There are no reliable carrier frequency figures in the breeding population (limited data).
Breeder management
- Genotype breeding animals before mating; the panel covers five conditions/markers in a single sample.\n- Recessive conditions (cystinuria, muscular dystrophy, DM exon 2 and thrombopathy): do not mate two carriers (25 % homozygotes per litter); carrier × clear does not produce affected animals.\n- Cystinuria: in homozygotes, abundant hydration, monitoring of crystalluria and vigilance for obstruction (especially in males).\n- Thrombopathy: in homozygotes, assess platelet function before scheduled surgery.\n- 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
Urolithiasis in the Landseer may be cystine (cystinuria) or urate — stone analysis is key. MD is confirmed by muscle biopsy and molecular study; the differential diagnosis includes other congenital myopathies. Thrombopathy must be differentiated from immune thrombocytopenias, coagulation defects and pseudothrombocytopenia due to EDTA-dependent aggregates — repeat the smear in citrate. DM is a diagnosis of exclusion: rule out spinal cord compression and disc herniation before attributing the condition to SOD1.
References
1. Henthorn PS et al. 2000, polimorfismo del gen SLC3A1 y mutación sin sentido en Terranova con cistinuria (Hum Genet) (PMID 11129328).
2. Steffen F et al. 2015, variante sin sentido en COL6A1 en perros Landseer con distrofia muscular (G3 Bethesda) (PMID 26438297).
3. Brands J et al. 2021, distrofia muscular por COL6A1 en el Landseer: modelo canino de distrofia muscular congénita de Ullrich (Muscle Nerve) (PMID 33382107).
4. Awano T et al. 2009, mutación de SOD1 en la mielopatÃa degenerativa canina (PNAS) (PMID 19188595).
5. Boudreaux MK et al. 2007, mutaciones de CalDAG-GEFI asociadas a pérdida de función plaquetaria en perros (Transl Res) (PMID 17656327).
6. Drögemüller C et al. 2007, SNP no codificante de MLPH y dilución de capa (J Hered) (PMID 17519392); Van Buren SL et al. 2020, tercer alelo de dilución de MLPH (Genes Basel) (PMID 32531980).
7. OMIA:000256-9615, OMIA:001967-9615, OMIA:000031-9615, OMIA:002433-9615.
2. Steffen F et al. 2015, variante sin sentido en COL6A1 en perros Landseer con distrofia muscular (G3 Bethesda) (PMID 26438297).
3. Brands J et al. 2021, distrofia muscular por COL6A1 en el Landseer: modelo canino de distrofia muscular congénita de Ullrich (Muscle Nerve) (PMID 33382107).
4. Awano T et al. 2009, mutación de SOD1 en la mielopatÃa degenerativa canina (PNAS) (PMID 19188595).
5. Boudreaux MK et al. 2007, mutaciones de CalDAG-GEFI asociadas a pérdida de función plaquetaria en perros (Transl Res) (PMID 17656327).
6. Drögemüller C et al. 2007, SNP no codificante de MLPH y dilución de capa (J Hered) (PMID 17519392); Van Buren SL et al. 2020, tercer alelo de dilución de MLPH (Genes Basel) (PMID 32531980).
7. OMIA:000256-9615, OMIA:001967-9615, OMIA:000031-9615, OMIA:002433-9615.