Genetic Testing Available for Disorders in Samoyeds
The following disorders are inherited in Samoyeds and genetic testing is available. Links to several laboratories that offer genetic testing are listed. Listing is for information only and is not a SCARF endorsement of their services. Laboratory websites are included for their descriptions of the disorders and their inheritance.
Not all laboratory results are eligible for submission to OFA as part of CHIC certification. If CHIC certification is the goal, please verify which tests are required and whether results from a particular laboratory will be accepted. OFA-CHIC requirements for Samoyeds are listed on the OFA website and currently include genetic tests for X-linked Progressive Retinal Atrophy and Retinal Dysplasia/Oculoskeletal Dysplasia 2. Several laboratories offer DNA testing panels (Wisdom, Embark). At this time the panels do not include all the disorders listed here, or all the disorders required for CHIC certification. (Information current October 6, 2020).
Degenerative Myelopathy
Gene: SOD1, point mutation
Mode of inheritance: Autosomal recessive with incomplete penetrance
UC Davis Veterinary Genetics Laboratory
Familial Enamel Hypoplasia
Gene: SCL24A4
Mode of inheritance: Autosomal recessive
UC Davis Veterinary Genetics Laboratory
Article describing the genetics:
Pedersen NC, Shope B, Liu H. An autosomal recessive mutation in SCL24A4 causing enamel hypoplasia in Samoyed and its relationship to breed-wide genetic diversity. Canine Genet Epidemiol. 2017;4:11.
Letter to editor about previous article:
Nicholas FW, Mellersh C, Lewis T. Letter to the editor regarding an autosomal recessive mutation in SCL24A4 causing enamel hypoplasia in Samoyed and its relationship to breed-wide genetic diversity. Canine Genet Epidemiol. 2018;5:4.
X-Linked Hereditary Nephritis (Samoyed Hereditary Glomerulopathy)
Gene: COL4A5 (point mutation)
Mode of inheritance: X-linked Dominant
AnimaLabs (in Europe)
Progressive Retinal Atrophy, X-linked
Gene: RPGR (deletion)
Mode of inheritance: X-linked recessive
AnimaLabs (in Europe)
Retinal Dysplasia/Oculoskeletal Dysplasia 2 (RD/OSD2)
Gene: COL9A2, deletion
Mode of inheritance: Autosomal recessive with a heterozygous effect
AnimaLabs (in Europe)
Article describing the genetics:
Goldstein O, Guyon R, Kukekova A, et al. COL9A2 and COL9A3 mutations in canine autosomal recessive oculoskeletal dysplasia. Mamm Genome. 2010;21(7-8):398-408