Lafora disease (LD) is an autosomal recessive late onset, progressive myoclonic epilepsy (PME). It is characterized by intracellular accumulation of abnormal glycogen (Lafora bodies). Most common clinical signs are myoclonus and generalized seizures. The causative mutation was detected in the NHLRC1 gene. The normal sequence contains nearly identical dodecamers which can be present in two or three copies. In affected dogs, both alleles are expanded with 19 to 26 copies of the dodecamer sequence.
In affected dogs, both alleles are expanded with 14 to 26 copies of the complex protein sequence. The mutation have been found as causative mutation for Lafora in Beagle, Miniature Wirehaired Dachshund, Basset Hound, Newfoundland dogs, French Bulldog, Griffon Bruxellois, Chihuahua, Pembroke Corgi, and several mixed breed dogs. Due to the unstable nature of this sequence repeat it is supposed and likely that the mutations may occur in any purebred or mixed-breed dog.
Test specific information
‘Late onset’ – This phrase indicates, that the symptoms of the disease can be detected at a later ages. ‘Late onset’ is the opposite of ‘early onset’, in which symptoms may be present at younger ages. The phrases are used because the mutation causing ´late onset´ symptoms may be different compared to the mutations causing ´early onset´ symptoms.
The Turnaround Time (TAT) depends on various factors, such as the shipment time of your sample to the test location, the test method(s) and whether the tests are performed completely or partially by a Partner Lab or Patent owner.
The TAT of tests performed at our facilities is normally 10 working days after receipt of the sample at the testing laboratory (VHL, VHP or Certagen). For tests performed by a Partner Laboratory (so-called "partner lab test") or patent owner, the TAT is at least 20 working days after receipt of your sample. Because the shipment time to our Partner Labs or patent owner may vary due to factors we cannot influence, the mentioned 20 working days are therefore an estimate.
Sometimes it is necessary to re-run your sample. We call this a retest. In that case, the TAT will of course be extended.
Location of disease or trait
This disease is present in the entire body, but causes main effects in the internal organs such as stomach, intestinal tract, liver and / or kidneys. In a number of cases, the disease affects one major internal organ.
This DNA test is available for the following breeds: Beagle, Miniature Wirehaired Dachshund. Additional information is available in the Frequently Asked Questions (FAQ).
For this DNA test we accept the following materials: Blood EDTA, Blood Heparin, Semen, Swab, Tissue. Please contact Dr. Van Haeringen Laboratorium if you wish to submit other material as listed.
An animal can be free and has in that situation two healthy alleles. When used in breeding this animal will not become ill due to the disease. It cannot spread the disease in the population.
An animal can be carrier and has in that situation one healthy and one disease allele. When used in breeding 50 percent of the offspring will receive the disease allele. Carriers will not become ill.
An animal can be affected and has in that situation two disease alleles. When used in breeding all offspring will also receive the disease allele. Affected will become ill.
This genetic factor is inherited in an autosomal, recessive, mode. This means, that the individual can be free of the disease (homozygote normal), affected (homozygous affected) or carrier (heterozygous).
Carriers may spread the mutation in a population without showing symptoms themselves. Because of this, it is extremely important to identify carriers correctly to prevent spreading of a mutation.
Severity of Disease