Burmese Pack: Genetic Blood Group, Gangliosidosis (GM2), Cranial Defect, Hypokalemia

Panel de ADN específico para el burmés que combina la determinación genética del grupo sanguíneo con el cribado de tres afecciones hereditarias de la raza: gangliosidosis GM2, defecto craneofacial congénito y polimiopatía hipopotasémica familiar. La GM2 es una enfermedad neurodegenerativa lisosomal letal; el defecto craneofacial es una malformación congénita grave; y la hipopotasemia es un trastorno neuromuscular tratable. Se realiza a partir de hisopado bucal o sangre e identifica animales portadores y afectados para planificar apareamientos seguros.

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Diseases included in this pack

Feline blood group genetic determination (dominant and recessive alleles) (Autosomal, CMAH allelic series A > a^c > b. A dominant over b; a^c dominant over b and recessive to A. A/A, A/b, A/a^c = type A; b/b = type B; a^c/a^c and a^c/b = type AB. Group B queens have anti-A antibodies (neonatal isoerythrolysis).)

This test determines by DNA the alleles of the cat AB blood group system: the A allele (dominant) and the b allele (recessive), which define groups A, b/B and AB. The group determines compatibility in transfusions and, above all, the risk of neonatal isoerythrolysis: a group b queen with anti-A antibodies can destro…

Frontonasal Dysplasia (Burmese) (Autosomal co-dominant. Heterozygotes show brachycephaly (selected trait) and homozygotes present lethal frontonasal dysplasia. 25 % of the offspring of matings between heterozygotes are affected homozygotes.)

Hereditary frontonasal dysplasia of the Burmese cat, caused by a 12-bp in-frame deletion in ALX1. The allele is co-dominant: heterozygotes show the brachycephalic 'Contemporary Burmese' phenotype, whereas homozygotes suffer a severe craniofacial defect (agenesis of derivatives of the medial nasal prominence, meningo…

Gangliosidosis (GM2) (Autosomal recessive)

GM2 gangliosidosis is a hereditary lysosomal disease of the Burmese cat in which a deficiency in the GM2 ganglioside degradation pathway causes toxic accumulation in the central nervous system. It affects the brain and, to a lesser extent, other organs. Affected cats develop progressive juvenile neurological deterio…

Feline hypokalemic periodic paralysis (Burmese) (Autosomal recessive. Affected homozygotes present episodes of weakness and hypokalemia; heterozygotes are clinically normal carriers.)

Hereditary muscle disorder of the Burmese cat (and related breeds) caused by a loss of function of the WNK4 gene. It produces recurrent episodes of muscle weakness and paralysis due to hypokalemia (low blood potassium), with recovery between episodes. It is not a hypercalcemic periodic paralysis and does not involve…

Frequently asked questions

What does this pack include?

It includes 4 hereditary disease tests: Feline blood group genetic determination (dominant and recessive alleles), Frontonasal Dysplasia (Burmese), Gangliosidosis (GM2), Feline hypokalemic periodic paralysis (Burmese). 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.