General description
includes (15 Euro patent fee for DM Exon2): Canine multi-focal retinopathy (CMR1), Chondrodysplasia and -dystrophy (CDPA &CDDY, IVDD risk), Congenital hypothyroidism (CHG), Cystinuria, Degenerative myelopathy (DM) exon 2, Hereditary cataract (HSF4)
French Bulldog
Order details
| Test number | 8285 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Degenerative myelopathy exon 2 (DM exon 2)
Test specifications
| Symptom complex | neuromuscular |
| Inheritance | autosomal recessive with age-dependent incomplete penetrance; a risk factor associated with DM is detected. |
| Age of onset | ab 8 years |
| Causality | High-risk factor |
| Gene | SOD1 |
| Mutation | G-A |
| Literature | OMIA:000263-9615 |
Chondrodysplasia (CDPA) and -dystrophia (CDDY) (IVDD risk)
Test specifications
| Symptom complex | skeletal |
| Inheritance | dominant for CDPA, semi-dominant for CDDY-related leg length, dominant for IVDD risk |
| Causality | causally |
| Gene | FGF4 |
| Mutation | COMPLEX |
| Literature | OMIA:002542-9615 |
Hereditary cataract (HSF4) - Boston Terrier, French Bulldog, Staffordshire Bull Terrier
Test specifications
| Symptom complex | ophthalmic |
| Inheritance | autosomal recessive |
| Causality | causally |
| Gene | HSF4 |
| Mutation | INS |
| Literature | OMIA:001758-9615 |
