Turnaround time
10 workdays
48.4
40
DNA test for the MANBA c.560T>A variant that causes beta-mannosidosis in German Shepherd Dogs.
Overview
This genetic test detects the MANBA c.560T>A variant that causes beta-mannosidosis in German Shepherd Dogs. The condition is also described as beta-mannosidase deficiency, MANBA-related beta-mannosidosis or an inherited lysosomal storage disease.
MANBA encodes beta-mannosidase, an enzyme needed for breakdown processes in lysosomes. In affected dogs, breakdown products accumulate and mainly affect development and the nervous system. Signs can include poor growth, behavioural or learning problems, balance problems, tremors and progressive neurological decline.
Beta-mannosidosis caused by this MANBA variant follows an autosomal recessive inheritance pattern. Two copies cause the disease; one copy makes the dog a carrier.
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 (TT)
The dog does not carry the tested variant. This genotype does not cause beta-mannosidosis and will not pass this variant to offspring.
Genotype / allele combination: Carrier / one copy (TA)
The dog carries one copy of the tested variant. One copy does not cause beta-mannosidosis, but the variant can be passed on. Mate carriers only to dogs tested clear.
Genotype / allele combination: Affected / two copies (AA)
The dog carries two copies of the tested variant. This genotype causes beta-mannosidosis; the dog will pass the variant to all offspring.
Sampling and submission guidelines





References