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Combination Welsh Corgi

General description

includes (15 Euro patent fee for DM Exon2): Brachyuria (stumpy tail), Chondrodysplasia (CDPA) and -dystrophia (CDDY) (IVDD risk), Degenerative myelopathy (DM exon2), Progressive retinal atrophy (rcd3-PRA) and von Willebrand disease type I (vWD1)

Breeds

Cardigan Welsh Corgi, Pembroke Welsh Corgi, Welsh Corgi (Cardigan/Pembroke)

Order details
Test number8661
Sample material0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT)
Test duration7-14 working days

Degenerative myelopathy exon 2 (DM exon 2)

Test specifications
Symptom complexneuromuscular
Inheritanceautosomal recessive with age-dependent incomplete penetrance; a risk factor associated with DM is detected.
Age of onsetab 8 years
CausalityHigh-risk factor
GeneSOD1
MutationG-A
LiteratureOMIA:000263-9615

Brachyuria (stumpy tail)

Test specifications
Symptom complexskeletal
Inheritanceautosomal dominant
Age of onsetfrom birth
Causalitycausally
GeneTBXT
MutationG-C
LiteratureOMIA:000975-9615

Chondrodysplasia (CDPA) and -dystrophia (CDDY) (IVDD risk)

Test specifications
Symptom complexskeletal
Inheritancedominant for CDPA, semi-dominant for CDDY-related leg length, dominant for IVDD risk
Causalitycausally
GeneFGF4
MutationCOMPLEX
LiteratureOMIA:002542-9615

Progressive retinal atrophy (rcd3-PRA)

Test specifications
Symptom complexophthalmic
Inheritanceautosomal recessive
Age of onset6-16 weeks
Causalitycausally
GenePDE6A
MutationDEL
LiteratureOMIA:001314-9615

von-Willebrand disease type I (vWD1)

Test specifications
Symptom complexhematologic
Inheritanceautosomal dominant with incomplete penetrance
Causalitycausally
GeneVWF
MutationG-A
LiteratureOMIA:001057-9615