General description
includes: Charcot-Marie-Tooth Neuropathy (CMT), Mycobacterium avium complex sensitivity (MAC), Myotonia congenita, Persistent Müllerian duct syndrome (PMDS), Progressive retinal atrophy (Type B1-PRA, HIVEP3) and Spondylocostal dysostosis (Comma defect).
Miniature Schnauzer
Order details
| Test number | 8619 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Spondylocostal dysostosis (Comma defect)
Test specifications
| Symptom complex | skeletal |
| Inheritance | autosomal recessive |
| Age of onset | from birth |
| Causality | causally |
| Gene | HES7 |
| Mutation | DEL |
| Literature | OMIA:001944-9615 |
Mycobacterium avium complex sensitivity (MAC)
Test specifications
| Symptom complex | immunological |
| Inheritance | autosomal recessive |
| Age of onset | 1-8 months |
| Causality | causally |
| Gene | CARD9 |
| Mutation | DEL |
Persistent Müllerian duct syndrome (PMDS)
Test specifications
| Symptom complex | urological |
| Inheritance | autosomal recessive |
| Age of onset | from birth |
| Causality | causally |
| Gene | AMHR2 |
| Mutation | G-A |
| Literature | OMIA:002775-9615 |
Progressive retinal atrophy (Type B1-PRA, HIVEP3)
Test specifications
| Symptom complex | ophthalmic |
| Inheritance | autosomal recessive |
| Causality | causally |
| Gene | HIVEP3 |
| Mutation | G-A |
| Literature | OMIA:001311-9615 |
