General description
includes (15 Euro patent fee): Centronuclear myopathy (CNM), Degenerative myelopathy (DM exon 2), Dilated cardiomyopathy (DCM), Lethal akrodermatitis (LAD), Primary lens luxation (PLL)
Heideterrier
Order details
| Test number | 8930 |
| 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 |
Lethal acrodermatitis (LAD)
Test specifications
| Symptom complex | dermatologic |
| Inheritance | autosomal recessive |
| Age of onset | first week of life |
| Causality | causally |
| Gene | MKLN1 |
| Mutation | T-G |
| Literature | OMIA:002146-9615 |
Dilated cardiomyopathy (DCM) - Dobermann
Test specifications
| Symptom complex | cardiologisch |
| Causality | risk factor |
| Gene | PKD4 |
| Mutation | DEL |
| Literature | OMIA:000162-9615 |
