DNA & genetic tests
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48.4

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40

Progressive retinal atrophy / rdy-PRA / rod-cone dysplasia (CRX-related) - Cat

DNA test for the CRX c.546del variant that causes rdy-PRA / rod-cone dysplasia in cats.

Turnaround time
10 workdays
test Methods
Sequencing
Test code
PVT-0804E983C67A
Species
Cat
Breeds
Abyssinian, Savannah, Somali
Matrices
Blood, Blood (EDTA), Blood (Heparin), Swab, Tissue

Overview

rdy-PRA / rod-cone dysplasia in cats

This DNA test assesses the CRX variant c.546del that causes rdy-PRA / rod-cone dysplasia. The disorder is also known as Rdy, rdy-PRA, rod-cone dysplasia, cone-rod dystrophy/dysplasia, progressive retinal dystrophy and progressive retinal atrophy. It is an inherited retinal disorder in which rod and cone development and function are disrupted.

Cats with one copy can show signs within the first weeks of life, including delayed pupil responses, nystagmus and early retinal changes. Two copies cause a more severe form with marked disruption of photoreceptor development.

How to read the result

  • Clear: the tested CRX deletion is not detected; the cat will not pass on this variant.
  • One copy: one copy causes rdy-PRA and is already genetically relevant for visual development and breeding plans.
  • Two copies: two copies cause a more severe form with marked disruption of photoreceptor development.

Practical value of this test

  • distinguishes clear cats, cats with one copy and cats with two copies;
  • provides clear information for matings where early retinal disease should be avoided;
  • helps breeders select more precisely in lines where rdy-PRA occurs.

Included subanalyses

This analysis includes the following subanalysis:

  • Progressive retinal atrophy / rdy-PRA / rod-cone dysplasia (CRX)

Allele combinations & result interpretations

Sampling and submission guidelines

References