General description
includes (15 Euro patent fee for DM Exon2): Collie eye anomaly (CEA)**, Degenerative myelopathy (DM exon 2), Dermatomyositis (DMS), Inflammatory pulmonary disease (IPD), MDR1-gene variant (MDR1) and Progressive retinal atrophy (rcd2-PRA)
Collie (rough/smooth)
Order details
| Test number | 8625 |
| 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 |
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 (rcd2-PRA)
Test specifications
| Symptom complex | ophthalmic |
| Inheritance | autosomal recessive |
| Age of onset | 6 weeks |
| Causality | causally |
| Gene | RD3 |
| Mutation | INS |
| Literature | OMIA:001260-9615 |
Inflammatory pulmonary disease (IPD)
Test specifications
| Symptom complex | respiratory |
| Inheritance | autosomal recessive |
| Age of onset | a few days after birth |
| Causality | causally |
| Gene | AKNA |
| Mutation | DEL |
| Literature | OMIA:002205-9615 |
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 |
Dermatomyositis (DMS)
Test specifications
| Symptom complex | immunological |
| Inheritance | polygen |
| Age of onset | 12 weeks |
| Causality | High-risk factor |
| Literature | OMIA:000270-9615 |
