General description
includes (15 Euro patent fee for DM Exon2): Collie eye anomaly* (CEA), Degenerative myelopathy (DM exon2), MDR1-gene variant (Ivermectin hypersensibility), Progressive retinal atrophy (CNGA1-PRA),Progressive retinal atrophy (BBS2-PRA) and von-Willebrand disease type (vWD) III
Shetland Sheepdog (Sheltie)
Order details
| Test number | 8652 |
| 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 |
Progressive retinal atrophy (BBS2-PRA)
Test specifications
| Symptom complex | ophthalmic |
| Inheritance | autosomal recessive |
| Age of onset | 8-10 years |
| Causality | causally |
| Gene | BBS2 |
| Mutation | G-C |
| Literature | OMIA:002484-9615 |
Maxillary canine tooth mesioversion (MCM)
Test specifications
| Symptom complex | dental |
| Inheritance | autosomal dominant |
| Causality | risk factor |
| Gene | FTSJ3 |
| Mutation | T-C |
| Literature | OMIA:002291-9615 |
Collie eye anomaly (CEA)
Test specifications
| Symptom complex | ophthalmic |
| Inheritance | autosomal recessive |
| Age of onset | from birth |
| Causality | causally |
| Gene | NHEJ1 |
| Mutation | COMPLEX |
| Literature | OMIA:000218-9615 |
Progressive retinal atrophy (CNGA1-PRA)
Test specifications
| Symptom complex | ophthalmic |
| Inheritance | autosomal recessive |
| Age of onset | 2 years |
| Causality | causally |
| Gene | CNGA1 |
| Mutation | DEL |
| Literature | OMIA:001977-9615 |
MDR1 gene variant (Ivermectin hypersensitivity)
Test specifications
| Symptom complex | metabolic |
| Inheritance | autosomal recessive; however, carriers with hypersensitivity can also be expected |
| Causality | causally |
| Gene | ABCB1 |
| Mutation | DEL |
| Literature | OMIA:001402-9615 |
