Rhodesian Ridgeback Pack: Degenerative Myelopathy (DM exon 2), Hemophilia B (Factor IX Deficiency), Hereditary Deafness (EOAD), Juvenile Myoclonic Epilepsy (JME), B-locus (Liver (Nose)), D-locus d1 (Dilution)
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Panel multienfermedad y de color dirigido al Rhodesian ridgeback que agrupa seis pruebas: mielopatía degenerativa (DM exón 2, SOD1), hemofilia B (déficit de factor IX, F9), sordera hereditaria de aparición temprana en adulto (EOAD, EPS8L2), epilepsia mioclónica juvenil con fotosensibilidad (JME, DIRAS1), B-locus (pigmento marrón/chocolate, TYRP1) y D-locus d1 (dilución, MLPH). La hemofilia B es una coagulopatía grave ligada al cromosoma X; las dos pruebas de color son marcadores morfológicos.
Diseases included in this pack
Hereditary Deafness in Rhodesian Ridgeback (Autosomal recessive (OMIA:002550-9615).)
Early-onset adult sensorineural deafness (EOAD) described in the Rhodesian Ridgeback. Unlike congenital pigment-associated deafness, it affects dogs with full pigmentation and presents progressively and bilaterally, usually between 6 and 24 months. It is a genetic disease caused by a deletion in EPS8L2 that produces…
D-locus d1 (dilution) MLPH all breeds (Autosomal recessive (D locus). The diluted coat phenotype requires homozygosity of the recessive allele d (d/d); heterozygotes D/d are not diluted.)
Colour dilution associated with the D locus is caused by variants in the MLPH gene (melanophilin). The recessive allele d gives rise to lightened coats (blue, grey, lilac, etc.) and, in a subset of affected dogs, predisposes to colour dilution alopecia (CDA), a dermatosis with hair loss and folliculitis. The effect…
Canine Degenerative Myelopathy exon 2 (All Breeds) (Autosomal recessive with age-dependent and incomplete penetrance)
Neurodegenerative disease of the spinal cord, the canine equivalent of human amyotrophic lateral sclerosis (ALS) due to SOD1 mutations. The classic variant (exon 2 of the SOD1 gene, described in 'all breeds') produces a dysfunctional superoxide dismutase 1 and degeneration of the long spinal tracts, with progressive…
Hemophilia B (Factor IX Deficiency), Breeds: Lhasa Apso, Rhodesian Ridgeback, American Akita, Hovawart (X-linked recessive (OMIA:000438-9615).)
Hemophilia B is a hereditary X-linked coagulopathy caused by deficiency of factor IX of the intrinsic coagulation pathway. A severe form associated with the F9 c.731G>A p.(G244E) mutation has been described in the Rhodesian Ridgeback. Affected males present spontaneous bleeding or bleeding disproportionate to trauma…
Juvenile Myoclonic Epilepsy (JME) (Autosomal recessive)
Juvenile myoclonic epilepsy of the Rhodesian ridgeback, with myoclonic jerks of juvenile onset and photosensitivity in some animals, phenotypically close to human juvenile myoclonic epilepsy. It is caused by a deletion in DIRAS1 and is inherited in an autosomal recessive manner with complete penetrance.
Color de pelo canino Capas sólidas (negro, marrón - chocolate, amarillo, rojo, leonado y máscara Em) + capas diluidas (MLPH y MITF) SIN Merle (Mendelian trait. K locus (CBD103) with allele hierarchy KB > kbr > ky; the KB allele (solid black) is dominant. B locus (TYRP1) of autosomal recessive inheritance: two b alleles (b/b) are required for the brown/chocolate coat.)
A set of dog coat pigmentation traits, not a disease. 'Solid black' (K locus) and 'brown/chocolate' (B locus) are two independent traits. The K locus (CBD103 gene) regulates eumelanin production and determines whether the coat is solid black; the B locus (TYRP1 gene) determines brown/chocolate versus black colourati…
Frequently asked questions
What does this pack include?
It includes 6 hereditary disease tests: Hereditary Deafness in Rhodesian Ridgeback, D-locus d1 (dilution) MLPH all breeds, Canine Degenerative Myelopathy exon 2 (All Breeds), Hemophilia B (Factor IX Deficiency), Breeds: Lhasa Apso, Rhodesian Ridgeback, American Akita, Hovawart…. 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.
