Equine pack, Quarab (CA, GBED, HERDA, PSSM, SCID)

Tests included in this pack (5)

• Equine Cerebellar Abiotrophy (CA)
• Equine Glycogen Branching Enzyme Deficiency (GBED)
• Hereditary Equine Regional Dermal Asthenia (HERDA)
• Equine Polysaccharide Storage Myopathy type 1 (PSSM)
• Equine Severe Combined Immunodeficiency (SCID)

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

Diseases included in this pack

Equine Cerebellar Abiotrophy (CA) (Autosomal recessive. The candidate variant (TOE1/MUTYH) is associated with the phenotype in homozygosity; penetrance apparently high in homozygotes, although not formally demonstrated.)

Degenerative disease of the cerebellum classically described in the Arabian horse, characterised by progressive loss (abiotrophy) of the Purkinje neurons of the cerebellar cortex. It produces ataxia, hypermetria and intention tremor from the first weeks or months of life. The animal remains alert and in good general…

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 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 Severe Combined Immunodeficiency (SCID) (Autosomal recessive)

Severe combined immunodeficiency (SCID) is a lethal disease of the Arabian foal characterised by failure of B- and T-lymphocyte development. Affected foals are born apparently healthy thanks to passive immunity from colostrum, but from the first weeks they suffer severe recurrent infections (diarrhoea, pneumonia) th…

Frequently asked questions

What does this pack include?

It includes 5 hereditary disease tests: Equine Cerebellar Abiotrophy (CA), Equine Glycogen Branching Enzyme Deficiency (GBED), Hereditary Equine Regional Dermal Asthenia (HERDA), 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.