This test investigates if the dog carries the mutation in the BEST1 gene that has been described as cause for the disease Canine Multifocal Retinopathy 1 (cmr1) in mastiff-related breeds.The disease is inherited as an autosomal recessive characteristic and only occurs if the dog carries two mutated alleles.

Cone-Rod Dystrophy 1, also known as crd1, is a disease in which the cone and rod cells in the retina degenerate, leading to blindness. Clinical signs can be seen as early as 11 weeks of age, and full blindness results in early adulthood.

This DNA-profile identity contains additional markers for increased reliability in parentage testing and especially for determining genetic diversity.
IT IS NOT REQUIRED IN THIS FORM BY ANY BREEDING COMPANY - the basic ISAG marker set is sufficient (article GDI100)

With this ID-profile a requirement for breeding approval at various breeding clubs in Germany but also abroad is fulfilled (see DNA-programs, e.g. DTK, DNK, DRC, VND or KZG). The set is internationally distributed and consists of the 22 recommended markers.
The result is issued as an ATC certificate identity with electronic signature and can be securely communicated over the...

This test detects the c.102C>A mutation in GBE1 that causes Glycogen Branching Enzyme Deficiency in Quarter Horses and related breeds. The inheritance is autosomal recessive so only animals with two defective copies (gbed/gbed) will be affected

This test detects the c.115G>A mutation in the PPIB gene which causes Hereditary Equine Regional Dermal Asthenia (HERDA) in Quarter Horses and related breeds. The inheritance is autosomal recessive so only animals with two defective copies (herda/herda) are affected.

This test detects the c.4248C>G mutation in the SCN4A gene which causes Hyperkalemic Periodic Paralysis in Quarter Horses and related breeds (Impressive-bred). The inheritance is incomplete autosomal dominant. Animals with one (n/HYPP) or two (HYPP/HYPP) copies of the mutation will be affected.

Application of the test: (a) identification of carrier animals from a mating of carrier x free animal. b) Differential diagnosis in urinary stones and inflammation of the urogenital tract. It is investigated whether the dog carries the mutation in the gene SLC2A9, which has been described as a cause of hyperuricosuria. Hyperuricosuria is the presence of excessive amounts of...

Application: - Identification of carriers. This test examines whether the dog carries the mutation in the RYR1 gene that has been found to cause malignant hyperthermia (MH). In this disease, problems with the metabolism in the skeletal muscles occur after the administration of certain anaesthetics. This can lead to hyperthermia, heart palpitations, muscle paralysis or organ...

Malignant Hyperthermia is an autosomal dominant mutation where fever, muscle rigidity and respiratory distress and even death can be triggered by specific anaesthetics or other stress/exercise. It also worsens the symptoms of horses with PSSM1 and 2.

PSSM1 is a form of exercise intolerance in which a disorder of the sugar metabolism of the muscles causes muscle damage.
The test detects the mutation (c.926G>A) in the GYS1 gene which causes PSSM1. The inheritance is incomplete autosomal dominant. Horses with one or two copies of the genetic variant (n/P1 or P1/P1) are at risk to develop symptoms of PSSM1; those with two...

The package includes the MIM-6 variant test* for Muscle Integrity Myopathy and the test for PSSM1*** * = EquiSeq exclusive licence for Europe *** = testing by partner laboratory