Test Detail

Multi-disease genetic panel for the Labradoodle (Labrador × Poodle cross) that groups together nine molecular tests: two forms of progressive retinal atrophy (prcd-PRA and rcd4-PRA), exercise-induced collapse (EIC), skeletal dysplasia 2/dwarfism (SD2), neonatal encephalopathy with seizures (NEWS), von Willebrand disease type 1 (vWD1), degenerative myelopathy (DM exon 2), centronuclear myopathy (CNM) and hereditary nasal parakeratosis (HNPK). The panel brings together variants described in both the Labrador Retriever and the Poodle, reflecting the hybrid origin of the breed. The molecular test is complementary to ocular, neuromuscular and haemostatic examination in breeding selection.

Applicable breed: Labradoodle (Labrador Retriever × Poodle cross). The variants come from the parental breeds and there are no published estimates of carrier frequency in the Labradoodle breeding population (limited data). prcd-PRA and rcd4-PRA are documented in the Poodle; EIC, CNM, SD2 and HNPK are documented in the Labrador; DM exon 2 is widely distributed. vWD1 due to VWF c.7437G>A is documented in the Miniature Poodle and other breeds (OMIA:001057-9615), but there is no breed-specific study in the Labradoodle; its real relevance in the breed is uncertain. In large cohorts, prcd-PRA remains one of the most frequent recessive variants in breeds of retriever and poodle ancestry (Donner et al., 2023; Clark et al., 2023).

- Genotype breeding animals before mating; the panel covers nine conditions in a single sample\n- For the recessive conditions (prcd-PRA, rcd4-PRA, EIC, SD2, NEWS, CNM, HNPK, DM): do not mate two carriers — 25% risk of homozygotes; carrier × clear is safe for offspring intended for breeding if they are tested\n- For DM: remember the incomplete penetrance; homozygotes are not a breeding priority and a clinical decision must not be based on genotype alone\n- For vWD1 (VWF c.7437G>A; dominant expression with incomplete penetrance): assess the von Willebrand factor level and confirm with the laboratory the exact variant used in the panel\n- After a confirmed clinical case, do not repeat the parental mating and inform the buyer of the status

The two PRAs in the panel differ by age of onset and ocular fundus, but the molecular diagnosis is what confirms the suspicion; rcd4-PRA is due to C2orf71/PCARE and not to CNGB3. Complementary annual ocular examination (ECVO/CERF). EIC must be differentiated from collapse due to arrhythmogenic cardiomyopathy, laryngeal myopathy and adynamic crisis. NEWS must be differentiated from other neonatal encephalopathies (infectious, metabolic, toxic). vWD1 is confirmed by assay of von Willebrand factor antigen and activity; the panel variant (VWF c.7437G>A) is documented in the Miniature Poodle, but not specifically in the Labradoodle. CNM is confirmed by muscle biopsy (centronuclear fibres) and molecular test. HNPK is confirmed by clinical examination and molecular test. DM is a diagnosis of exclusion: rule out spinal cord compression before attributing the presentation to SOD1.

1. Zangerl B, et al. Identical mutation in a novel retinal gene causes progressive rod-cone degeneration in dogs and retinitis pigmentosa in humans. Genomics. 2006. PMID: 16938425.
2. Downs LM, et al. Late-onset progressive retinal atrophy in the Gordon and Irish Setter breeds is associated with a frameshift mutation in C2orf71. Anim Genet. 2013. PMID: 22686255.
3. Downs LM, et al. Genetic screening for PRA-associated mutations in multiple dog breeds shows that PRA is heterogeneous within and between breeds. Vet Ophthalmol. 2014. PMID: 24255994.
4. Patterson EE, et al. A canine DNM1 mutation is highly associated with the syndrome of exercise-induced collapse. Nat Genet. 2008. PMID: 18806795.
5. Frischknecht M, et al. A COL11A2 mutation in Labrador retrievers with mild disproportionate dwarfism. PLoS One. 2013. PMID: 23527306.
6. Chen X, et al. A neonatal encephalopathy with seizures in Standard Poodle dogs with a missense mutation in the canine ortholog of ATF2. Neurogenetics. 2008. PMID: 18074159.
7. Crespi JA, et al. von Willebrand disease type 1 in Doberman Pinscher dogs: genotyping and prevalence of the mutation in the Buenos Aires region, Argentina. J Vet Diagn Invest. 2018. PMID: 29271313.
8. Pelé M, et al. SINE exonic insertion in the PTPLA gene leads to multiple splicing defects and segregates with the autosomal recessive centronuclear myopathy in dogs. Hum Mol Genet. 2005. PMID: 15829503.
9. Maurer M, et al. Centronuclear myopathy in Labrador retrievers: a recent founder mutation in the PTPLA gene has rapidly disseminated worldwide. PLoS One. 2012. PMID: 23071563.
10. Jagannathan V, et al. A mutation in the SUV39H2 gene in Labrador Retrievers with hereditary nasal parakeratosis (HNPK). PLoS Genet. 2013. PMID: 24098150.
11. Awano T, et al. Genome-wide association analysis reveals a SOD1 mutation in canine degenerative myelopathy. PNAS. 2009. PMID: 19188595.
12. Donner J, et al. Genetic prevalence and clinical relevance of canine Mendelian disease variants in over one million dogs. PLoS Genet. 2023. PMID: 36848397.
13. Clark JA, et al. Global frequency analyses of canine prcd-PRA and collie eye anomaly. Genes (Basel). 2023. PMID: 38003037.
14. Goossens LT, et al. Retrospective evaluation of hereditary eye diseases in Labradoodles. Front Vet Sci. 2026. PMID: 42339098 (contexto oftalmológico; no aborda rcd4/C2orf71).
OMIA:001575-9615 (rcd4/C2orf71); OMIA:001057-9615 (vWD1); OMIA:001466-9615 (EIC); OMIA:001772-9615 (SD2); OMIA:001374-9615 (CNM); OMIA:001373-9615 (HNPK).