Turnaround time
10 workdays
48.4
40
DNA test for the LIX1/LNPEP deletion that causes spinal muscular atrophy / SMA in cats.
Overview
This genetic test detects the large LIX1/LNPEP deletion that causes spinal muscular atrophy (SMA) in cats. SMA is an inherited neuromuscular disorder affecting motor neurons. It leads to progressive muscle weakness, tremor and muscle atrophy, most visibly affecting gait and the hindquarters.
Signs are typically seen at a young age. Cats may develop an abnormal gait, wide-set forelimbs, a swaying pelvic movement, tremors and increasing muscle weakness. The DNA test identifies the underlying deletion before breeding combinations are planned.
SMA caused by this LIX1/LNPEP deletion follows an autosomal recessive inheritance pattern. The test is useful for breeding selection, avoiding carrier-to-carrier matings and interpreting neurological or muscle-related signs.
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 / no tested variant
This genotype contains no copy of the tested variant. The cat will not develop spinal muscular atrophy caused by this LIX1/LNPEP deletion due to this variant and will not pass this variant to offspring.
Genotype / allele combination: Carrier / one copy
This genotype contains one copy of the tested variant. With autosomal recessive inheritance, one copy does not cause spinal muscular atrophy caused by this LIX1/LNPEP deletion, but the cat can pass the variant to offspring. Mate carriers only to animals tested clear.
Genotype / allele combination: Affected / two copies
This genotype contains two copies of the tested variant. This causes spinal muscular atrophy caused by this LIX1/LNPEP deletion; the animal will pass the variant to all offspring.
Sampling and submission guidelines





References