Pomeranian Pack: Progressive Retinal Atrophy (crd1-PRA), Biliary Mucocele, Vitamin D-Dependent Rickets (VDR)

Panel multienfermedad dirigido al Pomerania que agrupa las tres pruebas de sus componentes: atrofia progresiva de retina tipo cone-rod 1 (crd1-PRA, PDE6B), mucocele de vesícula biliar (GBM) y raquitismo vitamina D dependiente tipo II (VDR). El panel permite gestionar en una sola muestra una afección ocular, una hepatobiliar multifactorial y una metabólica ósea. El raquitismo VDR produce deformidades óseas graves en cachorros si no se detecta y trata precozmente. Nota: la variante PDE6B del componente crd1 está documentada en el American Staffordshire Terrier; no hay evidencia publicada de esta variante en el Pomerania (datos limitados).

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Diseases included in this pack

Gallbladder Mucocele (GBM) (Multifactorial (polygenic + environmental/endocrine factors). The initial hypothesis of dominant inheritance with incomplete penetrance in the Shetland Sheepdog (Mealey 2010) was not confirmed; Cullen (2014) proposes multifactorial or non-hereditary inheritance.)

Dilatation of the gallbladder due to accumulation of abnormal mucus (mucin) that distends the wall and predisposes to rupture and biliary peritonitis. It is a multifactorial disease, with marked breed predisposition (Shetland Sheepdog, Cocker Spaniel, Pomeranian, Cairn Terrier, Miniature Schnauzer) and familial aggr…

Vitamin D-Dependent Rickets (VDR) (Autosomal recessive (OMIA). Affected homozygotes; asymptomatic carrier heterozygotes.)

Vitamin D-dependent rickets type II caused by a mutation in the vitamin D receptor gene (VDR) in the Pomeranian. It produces resistance to the action of vitamin D, altering calcium and phosphorus homeostasis and causing defective bone mineralization. It causes skeletal deformities, growth retardation and lameness in…

crd1-PRA (Autosomal recessive)

Form of progressive retinal atrophy due to cone-rod dystrophy (crd1) described in the American Staffordshire Terrier. Its molecular basis is confirmed: an in-frame deletion of three base pairs in the PDE6B gene, which causes early and rapidly progressive degeneration of cones and rods and progresses to blindness.

Frequently asked questions

What does this pack include?

It includes 3 hereditary disease tests: Gallbladder Mucocele (GBM), Vitamin D-Dependent Rickets (VDR), crd1-PRA. 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.