Combination Irish Soft-Coated Wheaten Terrier

General description

includes (15 Euro patent fee for DM Exon2): Degenerative myelopathy (DM exon2), Hyperurikosuria (SLC), Microphthalmia (rbp4), Paroxysmal dyskinesia (PxD), Protein losing nephropathy (PLN)

Breeds

Irish Soft Coated Wheaten Terrier

Order details
Test number8663
Sample material0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT)
Test duration7-14 working days

Hyperuricosuria (HUU/SLC)

Test specifications
Symptom complexurological
Inheritanceautosomal recessive
Causalitycausally
GeneSLC2A9
MutationG-T
LiteratureOMIA:001033-9615

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

Paroxysomal dyskinesia (PxD)

Test specifications
Symptom complexneurological
Inheritanceautosomal recessive
Age of onset2 years
Causalitycausally
GenePIGN
MutationC-T
LiteratureOMIA:002084-9615

Protein losing nephropathy (PLN)

Test specifications
Symptom complexnephrological
Age of onsetmiddle age
Causalitycausally
GeneKIRREL2, NPHS1
MutationG-C, G-A
LiteratureOMIA:001326-9615