Genetic testing for HYPP - Hyperkalemic Periodic Paralysis

The Disease
Hyperkalaemic Periodic Paralysis has been reported in Quarter Horses (Offsprings of the stallion “Impressive”) and horses with Quarterhorse blood (Apaloosas and Paints). The disease is characterized by intermittent episodes of muscular fasciculations, weakness, myotonia, or involuntary recumbency. HYPP is the result of a genetic mutation in the sodium channel gene of skeletal muscles. It is inherited as an autosomal dominant trait. That means that a heterozygous carrier of the defect gene shows the same symptoms than a horse with both allels affected. The breeding of an genetically clear horse with a heterozygous carrier produces a diseased horse with a probability of  50%.


The mutation-based gene test and its advantages
The genetic defect leading to the disease has been identified. By DNA testing the responsible mutation can be shown directly. This method provides a very high accuracy test and can be done at any age. It offers the possibility to distinguish not only between affected and clear horses, but also to identify carriers.

Requirements
The test is performed out of  EDTA whole blood (1 ml). The results are out about one week after arrival of the sample in our laboratory.
 


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