Diagnostic DNA-tests

Tests developed and current research

When we find the genetic cause of a heritable disease in DNA, we make diagnostic tests available, even prior to scientific publication. These diagnostic tests are almost always based on the cause itself, and not on a DNA marker that is indirectly linked to the cause. A DNA test can occasionally confirm a diagnosis of a genetic disease, but it is more important to identify carriers of the disease. Preventing carriers to mix results in no animals being born with the disease.

Below is a list of diseases and the dog breeds for which we have developed DNA tests.

The links refer to the forms to use to request a test.

Relevance and screening

qualitative study for 38 dog breeds in the Netherlands examined which diseases are most relevant. DNA tests are available for some of these diseases. Below is an overview of the tests that may be relevant for each breed:


  • Cerebellar degeneration (abiotrophy)
  • Pyruvate kinase deficiency

Border collie

  • Collie eye anomaly (CEA)
  • Ivermectin hypersensitivity / MDR1 gene defect*
  • Primary lens luxation (PLL)

Bordeaux dog

  • Canine multifocal retinopathy 1 (CMR1)
  • Focal non-epidermolytic palmoplantar keratoderma (FNEPPK)

Cane corso

  • Focal non-epidermolytic palmoplantar keratoderma (FNEPPK)

Cavalier King Charles spaniel

  • Dry eye curly coat syndrome (CKCSID)
  • Macrothrombocytopenia

Great Dane

  • Centronuclear myopathy (CNM)

Drentsche patrijshound or Drent

  • Von Willebrand’s disease (VWD) type 1

German shepherd

  • Pituitary dwarfism
  • Ivermectin hypersensitivity / MDR1 gene defect*
  • Hereditary kidney and skin tumours (RCND)

English Cocker spaniel

  • Exercise induced collapse*
  • Familial nephropathy*
  • Progressive retina atrophy (prcd PRA)


  • Von Willebrand’s disease (VWD) type 1

Golden retriever

  • Golden retriever progressive retina atrophy (GR_PRA1)

Jack Russell terrier

  • Primary lens luxation (PLL)
  • Spinocerebellar ataxia with myokymia and seizures (SCA)

Kooikerhondje (Decoy dog)

  • Hereditary necrotising myelopathy / degenerative myelopathy
  • Von Willebrand’s disease (illness of Von Willebrand, VWD) type 3

Labrador retriever

  • Hereditary nasal parakeratosis*
  • Exercise induced collapse*

Belgian shepherd

  • Neonatal cerebellar cortex degeneration (abiotrophy, NCCD)

Saarloos wolfdog

  • Pituitary dwarfism

Schapendoes (Dutch sheepdog)

  • Progressive retina atrophy (CNGA1-PRA)

Staffordshire bull terrier

  • L-2-hydroxyglutaric aciduria (L2HGA)

Shetland sheepdog

  • Collie eye anomaly*
  • Ivermectin hypersensitivity / MDR1 gene defect*
  • Progressive retina atrophy (CNGA1-PRA)


  • Color dilution alopecia / Locus D (MLPH gene)*
  • Cone-Rod dystrophia (cord1-PRA/crd4)
  • Neuronal ceroid lipofuscinosis 1 (NCL1)

Wetterhoun (Frisian water dog)

  • Severe combined immunodeficiency (SCID)

White Swiss shepherd

  • Ivermectin hypersensitivity / MDR1 gene defect*

In addition to conducting the tests requested, MyDogDNA also performs a broad DNA screening for other conditions and external characteristics, as well as an evaluation of how the dog compares to the average for the breed. You will receive this information along with the test results.

For more information, please refer to the website of PennGen Section of Medical Genetics, School of Veterinary Medicine, University of Pennsylvania.

If you have not found what you are looking for, or if you have any further questions, please send an e-mail to: ecgg@uu.nl.


Note *

Tests for conditions that came forward as the result of the qualitative study, but that have not yet been conducted by the UVDL or MyDogDNA, may be requested from the following laboratories:

A literature study conducted by the Faculty of Veterinary Medicine has shown that these tests are proven for the selected breeds.