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Cat DNA testing illustration

Ehlers-Danlos Syndrome Type 1 – Cat All Breeds

Code: K315

74,72 €

Sample details

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

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Short description

Ehlers-Danlos syndrome (EDS) Type I is most likely caused by a mutation in the COL5A1 gene.

General information

Ehlers-Danlos syndrome (EDS) Type I is most likely caused by a mutation in the COL5A1 gene. This results in defective collagen synthesis or impaired assembly of the collagen structure. Collagen is the main component of connective tissue, and it is the most abundant protein in mammals. It is mostly found in tendons, ligaments, and skin, but also in bones, blood vessels and many other tissues.

Specifications

Breeds

All Breeds
Gene

COL5A1
Chromosome

D4
Mutation

c.3420delG
Organ

Integumentary System
Specimen

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

Autosomal Dominant
Also known as

cEDS

Clinical features

Cats with Ehlers-Danlos syndrome (EDS) Type 1 show loose and stretchy skin that is very fragile, poor wound healing and abnormal scarring. Symptoms will develop at a young age. Within a few hours to a maximum of several weeks after birth, the characteristics that go with these genetic effects will become visible.

References

Pubmed ID: 30246406

Year published: 2018

Omia ID: 2165

Omia variant ID:

Turnaround information

  • 15 working days