General description
includes: Laryngeal paralysis (LP), Lethal acrodermatitis (LAD) and Primary lens luxation (PLL))
Bull Terrier, Miniature Bull Terrier
Order details
| Test number | 8474 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
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 |
Laryngeal paralysis (LP)
Test specifications
| Symptom complex | neurological |
| Inheritance | autosomal recessive with incomplete penetrance |
| Causality | High-risk factor |
| Gene | RAPGEF6 |
| Mutation | INS |
| Literature | OMIA:002222-9615 |
Polycystic kidney disease (PKD)
Test specifications
| Symptom complex | nephrological |
| Inheritance | autosomal dominant |
| Age of onset | middle age |
| Causality | causally |
| Gene | PKD1 |
| Mutation | G-A |
| Literature | OMIA:000807-9615 |
