General description
includes (15 Euro patent fee for DM Exon2): Degenerative myelopathy (DM exon2)XXL, Haemophilia B (factor IX deficiency)XXL, Hereditary deafness (EOAD)XXL, Juvenile myoclonic epilepsy (JME)XXL, B-locus (brown, chocolate, liver(nose))XXL, D-locus d1 (dilution)XXL
Rhodesian Ridgeback
Order details
| Test number | 8647 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
D-locus d1 (dilution)
Test specifications
| Inheritance | Allelic series: D dominant over d1, d2 and d3 |
| Gene | MLPH |
| Mutation | G-A |
| Literature | OMIA:000031-9615 |
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 | from 8 years |
| Causality | High-risk factor |
| Gene | SOD1 |
| Mutation | G-A |
| Literature | OMIA:000263-9615 |
B-locus (alleles: bd, bc, bs) (brown, chocolate, liver(nose))
Test specifications
| Inheritance | Allelic series: B dominant over bd, bc, bs |
| Gene | TYRP1 |
| Literature | OMIA:001249-9615 |
Juvenile myoclonic epilepsy (JME)
Test specifications
| Symptom complex | neurological |
| Inheritance | autosomal recessive |
| Age of onset | 6 months |
| Causality | causally |
| Gene | DIRAS1 |
| Mutation | DEL |
| Literature | OMIA:002095-9615 |
