General description
includes (15 Euro patent fee for DM Exon2): Degenerative myelopathy (exon 2), Hyperurikosuria (SLC), Malignant hyperthermia (MH), Postoperative haemorrhage (P2Y12) and D-locus d1 (dilution).
Great Swiss Mountain Dog
Order details
| Test number | 8678 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
D-locus d1 (dilution)
Test specifications
| Inheritance | Allelic series: D dominant over d1, d2 and d3 |
| Gene | MLPH |
| Mutation | G-A |
| Literature | OMIA:000031-9615 |
Hyperuricosuria (HUU/SLC)
Test specifications
| Symptom complex | urological |
| Inheritance | autosomal recessive |
| Causality | causally |
| Gene | SLC2A9 |
| Mutation | G-T |
| Literature | OMIA:001033-9615 |
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 |
Postoperative hemorrhage (P2Y12) - Great Swiss Mountain Dog
Test specifications
| Symptom complex | hematologic |
| Inheritance | autosomal dominant |
| Causality | causally |
| Gene | P2RY12 |
| Mutation | DEL |
| Literature | OMIA:001564-9615 |
Malignant hyperthermia (MH)
Test specifications
| Symptom complex | metabolic |
| Inheritance | autosomal dominant |
| Causality | causally |
| Gene | RYR1 |
| Mutation | A-G |
| Literature | OMIA:000621-9615 |
