Interpretation of the genetic description and terminology -
'Wild Type" - m/m - neither of the investigated alleles of the gene harbor SINE insertion
"Heterozygous Mutation" - one of the investigated alleles harbor SINE insertion, the other is wild type (without SINE insertion)
"Compound Heterozygous Mutation" - both investigated alleles of the gene harbor a SINE insertion
"Homozygous Mutation" - both investigated alleles of the gene harbor the same SINE insertion
You will receive a chromatogram of your dog's results - a "picture" which shows the peaks of where exactly the alleles fall on the locus.
Vemodia's testing also allows for the identification of a "mosaic" result - 3 alleles on the locus, due to a shortening of an allele early in development.
The following is an example of a dog who is a "mosaic" - 3 alleles on the Locus.
You will notice that the Mc allele has shorter peaks - Vemodia is referring to this as the "minor" allele. This dog should have tested as M/Ma from his parents, however either the M or Ma mutated (shortened) early in embryo development and created some cells that include Mc.
This "minor" allele on a mosaic test will be reported using square brackets [**].
This result is M/Ma/[Mc] - 267/252/