Equine pack 5 (GBED, HERDA, HYPP, PSSM, EMH)

Tests included in this pack (5)

• Equine Glycogen Branching Enzyme Deficiency (GBED)
• Hereditary Equine Regional Dermal Asthenia (HERDA)
• Equine Hyperkalemic Periodic Paralysis (HYPP)
• Equine Polysaccharide Storage Myopathy type 1 (PSSM)
• Equine Malignant Hyperthermia (EMH)

Each test includes the full analysis and detailed report. Click a test to view its file.

Diseases included in this pack

Equine Glycogen Branching Enzyme Deficiency (GBED) (Autosomal recessive)

Glycogen branching enzyme deficiency (GBED) is a lethal glycogenosis of the Quarter Horse and Paint, with limited data in the Appaloosa. The absence of the enzyme prevents the formation of normal branched glycogen and causes accumulation of abnormal polysaccharide in muscle, liver and heart. Affected foals are born…

Hereditary Equine Regional Dermal Asthenia (HERDA) (Autosomal recessive)

HERDA is a genodermatosis of the Quarter Horse and related breeds (Paint) characterised by extreme skin fragility. It is caused by a mutation in the PPIB gene (cyclophilin B) that alters the organisation of dermal collagen. The skin of homozygotes separates and tears easily with minimal trauma, especially on the bac…

Equine Hyperkalemic Periodic Paralysis (HYPP) (Autosomal dominant with incomplete penetrance)

Equine hyperkalaemic periodic paralysis (HYPP; the technically correct term is 'hyperkalaemic', due to elevated potassium, although in catalogues it appears as hypercalcaemic) is a hereditary myopathy of the Quarter Horse and related breeds, caused by a mutation in the SCN4A gene of the skeletal muscle sodium channe…

Equine Polysaccharide Storage Myopathy type 1 (PSSM) (Autosomal dominant with incomplete dominance and penetrance and a gene dosage effect)

Polysaccharide storage myopathy type 1 (PSSM1) is an inherited muscle glycogenosis of the horse, caused by a mutation in the GYS1 gene that keeps glycogen synthase permanently active. The muscle accumulates glycogen and abnormal polysaccharide in excess and becomes prone to episodes of rhabdomyolysis (tying-up) with…

Equine Malignant Hyperthermia (EMH) (Autosomal dominant with incomplete penetrance)

Pharmacogenetic muscle disorder caused by a variant of the RYR1 gene (ryanodine receptor type 1) in the horse. The altered calcium channel releases calcium in an uncontrolled manner in response to triggers such as halogenated inhalational anaesthetics, stress or intense exercise, producing hyperthermia, muscle rigid…

Frequently asked questions

What does this pack include?

It includes 5 hereditary disease tests: Equine Glycogen Branching Enzyme Deficiency (GBED), Hereditary Equine Regional Dermal Asthenia (HERDA), Equine Hyperkalemic Periodic Paralysis (HYPP), Equine Polysaccharide Storage Myopathy type 1 (PSSM)…. All are analysed in our laboratory.

What do the results mean?

The report shows the genotype and inheritance pattern of each variant. It is a breeding-decision tool: it guides which crosses to avoid, it does not guarantee the absence of disease.

How is the sample taken?

Buccal swab or 0.5–1 ml EDTA blood. The kit ships free to Spain, the EU and the UK.