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Dog DNA testing illustration

Ehlers-Danlos Syndrome (EDS, COL5A1-related) – Dog

Code: H689

74,72 €

Sample details

One test – one sample. Animal and owner details are optional.

Search by our number or the laboratory number. An unmatched number is saved as a previous / external reference. No new physical sample is needed.
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Short description

Ehlers-Danlos Syndromes (EDS) are a group of connective tissue disorders, causing loose skin and joint hypermobility.

General information

Ehlers-Danlos Syndromes (EDS) are a group of connective tissue disorders, causing loose skin and joint hypermobility. The variant analysed in this specific test is for a form of EDS caused by a dominant mutation to the gene COL5A1.

Specifications

Breeds

All Breeds
Gene

COL5A1
Chromosome

9
Mutation

c.4711G>A
Organ

Integumentary System
Specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue
Mode of Inheritance

Autosomal Dominant
Also known as

cEDS

Clinical features

Affected dogs present clinical symptoms within the first several months of life. Symptoms are primarily weak skin (prone to small cuts, breaks and swellings), skin hyperextensibility and joints with an extreme range of motion.

References

Pubmed ID: 31546637

Year published: 2019

Omia ID: 2165

Omia variant ID:

Turnaround information

  • 15 working days