General description
includes: Juvenile brain disease (JBD), Late onset Ataxie (LOA), Spinocerebellar ataxia (SCA), Primary lens luxation (PLL) and Degenerative myelopathy (exon 2)
Jack Russell Terrier, Parson Russell Terrier
Order details
| Test number | 8571 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 3-5 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 |
Juvenile brain disease (JBD)
Test specifications
| Symptom complex | neurological |
| Inheritance | autosomal recessive |
| Age of onset | 6-12 weeks |
| Causality | causally |
| Gene | PITRM1 |
| Mutation | DEL |
| Literature | OMIA:002324-9615 |
Late onset ataxia (LOA)
Test specifications
| Symptom complex | neurological |
| Inheritance | autosomal recessive |
| Age of onset | 6-12 months |
| Causality | causally |
| Gene | CAPN1 |
| Mutation | C-T |
| Literature | OMIA:001820-9615 |
