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Breeds Affected: Staffordshire Bull Terrier

Samples Accepted: Blood, Buccal Swabs

Disease Information: L-2-Hydroxyglutaric aciduria (L-2-HGA) is characterized by affected animals having seizures, difficulty walking due to uncoordinated movement, and/or behaviour changes such as sudden hyperactivity, sudden aggression, or dementia. Affected dogs normally show symptoms between 6-12 months of age.

Inheritance Information: L-2-HGA is autosomal recessive, meaning that animals with two copies of this allele will be affected. Animals with one copy of the gene will be clinically-normal carriers.

The possible genotypes are:
N/N The dog is normal, and cannot produce affected offspring.
N/hga The dog is a carrier, and can pass the allele on to approximately 50% of any offspring. If bred to another N/hga carrier, approximately 25% of the offspring will be normal, 50% will be carriers, and 25% will be affected.
hga/hga The dog is affected. If bred to a normal animal, 100% of the offspring will be carriers. If bred to an N/hga carrier, 50% of the offspring will be carriers and 50% will be affected.

– Carriers may be bred to normal animals (N/hga x N/N) without any risk of producing affected offspring. The offspring should be tested before breeding to determine if they are carriers or normal.
– Breeding two carriers (N/hga x N/hga) is not recommended due to the possibility of 25% of the offspring being affected.
– Affected animals (hga/hga) should not be used for breeding.

Test Information:  This mutation test identifies two base changes in the L2HGDH gene.

Penderis, J., Calvin, J., Abramson, C., Jakobs, C., Pettitt, L., Binns, M.M., Verhoeven, N.M., O’Driscoll, E., Platt, S.R., Mellersh, C.S.: L-2-hydroxyglutaric aciduria: characterisation of the molecular defect in a spontaneous canine model. J Med Genet 44:334-40, 2007. Pubmed reference: 17475916. Doi: 10.1136/jmg.2006.042507.

Further information is available at the Online Mendelian Inheritance in Animals website.

Test #: D181

Cost: 35 € (excl. VAT)

Time: 7-10 days

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