Siberian Pack: Genetic Blood Group, Pyruvate Kinase Deficiency (PK), Colourpoint, Dilution

Panel de ADN específico para el siberiano que combina la determinación genética del grupo sanguíneo con el cribado de la deficiencia de piruvato quinasa (PK) y dos rasgos estéticos: el patrón colourpoint (propio de la variedad neva masquerade) y la dilución de la capa. La deficiencia de PK es la única enfermedad incluida: una anemia hemolítica crónica hereditaria. Se realiza a partir de hisopado bucal o sangre. Permite a la vez prevenir una enfermedad recesiva y planificar con fiabilidad los colores de las camadas.

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Diseases included in this pack

PK Erythrocytic Pyruvate Kinase Deficiency in Cats (Autosomal recessive.)

Erythrocytic pyruvate kinase (PK) deficiency is an inherited haemolytic anaemia caused by variants in the PKLR gene, which encodes the glycolytic enzyme pyruvate kinase. The defective enzyme shortens the lifespan of the erythrocyte and produces haemolytic anaemia of highly variable onset and severity, from mild comp…

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…

Color de pelo felino Capas sólidas + diluidas (Colorpoint, Agouti, Amber, Chocolate, Dilución...) (Independent Mendelian traits: ASIP non-agouti (a) recessive; TYRP1 chocolate (b) and cinnamon (b^l) recessive; TYR colorpoint (c^s) and Burmese (c^b) recessive; MLPH dilute (d) recessive.)

Genetic panel for feline coat colour and pattern (it is not a disease) that analyses four classic loci: ASIP (agouti/non-agouti), TYRP1 (brown: chocolate and cinnamon), TYR (colorpoint pattern: Siamese and Burmese) and MLPH (dilution). The result predicts the colour/pattern the animal can transmit and helps plan mat…

Coat dilution (cat, all breeds) (Autosomal recessive. Only d/d homozygotes show coat dilution; heterozygotes have normal colour.)

Coat dilution in the domestic cat is a recessive trait caused by a one-base deletion in the MLPH gene (melanophilin). Cats homozygous for the dilution allele show lightened colours (blue, bluish grey, lilac, cream, etc.) depending on the base colour. Unlike the dog, in the cat MLPH dilution has not been associated w…

Frequently asked questions

What does this pack include?

It includes 4 hereditary disease tests: PK Erythrocytic Pyruvate Kinase Deficiency in Cats, Feline blood group genetic determination (dominant and recessive alleles), Color de pelo felino Capas sólidas + diluidas (Colorpoint, Agouti, Amber, Chocolate, Dilución...), Coat dilution (cat, all breeds). 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.