Turnaround time
10 workdays
48.4
40
DNA test for skeletal dysplasia 2, disproportionate dwarfism and short-legged conformation in the Labrador Retriever via COL11A2 c.143G>C.
Overview
This genetic test analyses the COL11A2 variant c.143G>C in the Labrador Retriever. The trait is known as skeletal dysplasia 2, SD2, disproportionate dwarfism, short-legged syndrome and Labrador Retriever type disproportionate dwarfism.
SD2 affects cartilage and bone development. Affected dogs typically have shorter limbs with a relatively normal trunk and head. The difference can be subtle in young dogs, but is important for breeding selection, line management and identifying the genetic cause of short legs.
The trait is autosomal recessive. Clear dogs do not carry the tested variant, carriers have one copy and dogs with two copies develop the SD2 genotype. Carriers can be managed effectively through targeted mate selection.
Included subanalyses
This analysis includes the following subanalysis:
Allele combinations & result interpretations
Below, for each tested locus, you will find the possible allele combinations that may be reported within this analysis, together with a brief explanation of their genetic meaning. The interpretation of possible interactions between different loci is included in the report, but is not shown here in full because that would lead to too many combinations on this page. The final expression may also depend on other genes and their interaction.
Genotype / allele combination: Clear for the tested COL11A2 variant (GG)
The dog does not carry the tested SD2 variant and will not pass this variant to offspring.
Genotype / allele combination: Carrier of the tested COL11A2 variant (GC)
The dog carries one copy of the SD2 variant. It is usually not affected, but can pass the variant on; mating with another carrier can produce puppies with SD2.
Genotype / allele combination: Affected genotype for SD2 (CC)
The dog has two copies of the SD2 variant. This genotype causes skeletal dysplasia 2 with shorter limbs and disproportionate build in the Labrador Retriever.
Sampling and submission guidelines





References