General description
includes (15 Euro patent fee for DM Exon2): Degenerative myelopathy (DM exon 2), Malignant hyperthermia (MH), Necrotizing meningoencephalitis (NME/PDE), Pyruvate kinase deficiency (PK) and Primary lens luxation (PLL)
Pug
Order details
| Test number | 8623 |
| 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 |
Primary lens luxation (PLL)
Test specifications
| Symptom complex | ophthalmic |
| Inheritance | autosomal recessive; the literature describes that 2-20% of PLL carriers (N/PLL) develop PLL in the course of their lives. Carriers therefore have an (albeit low) risk of developing PLL. |
| Age of onset | 3-8 years |
| Causality | causally |
| Gene | ADAMTS17 |
| Mutation | G-A |
| Literature | OMIA:000588-9615 |
Necrotizing meningoencephalitis (NME/PDE)
Test specifications
| Symptom complex | neurological |
| Inheritance | autosomal recessive with incomplete penetrance; a risk factor associated with PDE is detected. |
| Age of onset | 6 months- 3 years |
| Causality | High-risk factor |
| Gene | DLA-DPB1 |
| Mutation | DEL |
| Literature | OMIA:001470-9615 |
Malignant hyperthermia (MH)
Test specifications
| Symptom complex | metabolic |
| Inheritance | autosomal dominant |
| Causality | causally |
| Gene | RYR1 |
| Mutation | A-G |
| Literature | OMIA:000621-9615 |
