General description
includes: Laryngeal paralysis with polyneuropathy type 3 (LPPN3), Leonberger polyneuropathy 1 (LPN1), Leonberger polyneuropathy 2 (LPN2), Leukoencephalomyelopathy (LEMP)
Leonberger
Order details
| Test number | 8286 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Larynxparalysis with polyneuropathy type 3 (LPPN3)
Test specifications
| Symptom complex | neurological |
| Inheritance | autosomal recessive |
| Causality | causally |
| Gene | CNTNAP1 |
| Mutation | C-T |
| Literature | OMIA:002301-9615 |
Leonberger polyneuropathy 1 (LPN1)
Test specifications
| Symptom complex | neurological |
| Inheritance | autosomal recessive |
| Age of onset | different |
| Causality | causally |
| Gene | ARHGEF10 |
| Mutation | DEL |
| Literature | OMIA:001917-9615 |
Leonberger polyneuropathy 2 (LPN2)
Test specifications
| Symptom complex | neurological |
| Inheritance | autosomal dominant with incomplete penetrance |
| Age of onset | 6 years |
| Causality | causally |
| Gene | GJA9 |
| Mutation | DEL |
| Literature | OMIA:002119-9615 |
