General description
includes (15 Euro patent fee for DM Exon2): Degenerative myelopathy (DM exon 2), Faktor VII deficiency, Neuroaxonal dystrophy (NAD), Progressive retinal atrophy (pap-PRA1) and von-Willebrand disease type I (vWD1)
Papillon, Phalène
Order details
| Test number | 8676 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 3-14 working days |
Factor VII deficiency (F7)
Test specifications
| Symptom complex | hematologic |
| Inheritance | autosomal recessive |
| Causality | causally |
| Gene | F7 |
| Mutation | G-A |
| Literature | OMIA:000361-9615 |
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 |
von-Willebrand disease type I (vWD1)
Test specifications
| Symptom complex | hematologic |
| Inheritance | autosomal dominant with incomplete penetrance |
| Causality | causally |
| Gene | VWF |
| Mutation | G-A |
| Literature | OMIA:001057-9615 |
Progressive retinal atrophy (pap-PRA1)
Test specifications
| Symptom complex | ophthalmic |
| Inheritance | autosomal recessive |
| Causality | causally |
| Gene | CNGB1 |
| Mutation | INS |
| Literature | OMIA:002723-9615 |
