DNA & genetic tests
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48.4

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40

Achromatopsia 3 / day blindness Pointer type (CNGB3-related) - German Shorthaired Pointer

DNA test for the CNGB3 c.784G>A variant that causes achromatopsia 3, cone degeneration and day blindness in the German Shorthaired Pointer.

Turnaround time
10 workdays
test Methods
Sequencing
Test code
PVT-4EB817398C18
Species
Dog
Breeds
German Shorthaired Pointer
Matrices
Blood, Blood (EDTA), Blood (Heparin), Swab, Tissue

Overview

What does this test examine?

This genetic test examines the CNGB3 c.784G>A variant. The variant is offered as Pointer-type achromatopsia 3 and is also known as cone degeneration, hemeralopia and day blindness.

What does this mean for the dog?

The variant disrupts cone function in the retina. Affected dogs therefore have the clearest problems in bright light: day blindness, photophobia, reduced colour vision and reduced visual acuity. Vision in dim light is often relatively well preserved because the rod system is less affected.

Practical value of this test

  • The result shows whether the dog is clear, a carrier or genetically affected for this CNGB3 variant.
  • For breeding plans, the test helps avoid unintentionally pairing two carriers.
  • In young dogs with light sensitivity or clearly reduced daytime vision, the test supports a targeted genetic explanation.

The condition is inherited as an autosomal recessive trait. One copy makes a dog a carrier; two copies cause the disorder.

Included subanalyses

This analysis includes the following subanalysis:

  • Achromatopsia 3 / day blindness Pointer type (CNGB3-related) - German Shorthaired Pointer

Allele combinations & result interpretations

Sampling and submission guidelines

References