General description
includes (15 Euro patent fee for DM Exon2): Cerebellar abiotrophy (CA), Collie eye anomaly (CEA), Degenerative myelopathy (exon 2), E-locus (e1), D-locus (d1)
Australian Kelpie
Detailed description
The following tests are included in this combination: Cerebellar abiotrophy (CA), Collie eye anomaly (CEA), Degenerative myelopathy (exon 2), E-locus (e1), D-locus (d1)
D-locus d1 (dilution)
Order details
| Test number | 8995 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
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)
Order details
| Test number | 8995 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
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 |
Cerebellar abiotrophy (CA)
Order details
| Test number | 8995 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Test specifications
| Symptom complex | neurological |
| Inheritance | autosomal recessive with incomplete penetrance (LINGO3), autosomal recessive (VPM1) |
| Age of onset | 4-10 weeks (LINGO3), 4-6 months (VPM1) |
| Gene | LINGO3, VPM1 |
| Literature | OMIA:0002602-9615 |
Collie eye anomaly (CEA)
Order details
| Test number | 8995 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Test specifications
| Symptom complex | ophthalmic |
| Inheritance | autosomal recessive |
| Age of onset | from birth |
| Causality | causally |
| Gene | NHEJ1 |
| Mutation | COMPLEX |
| Literature | OMIA:000218-9615 |
E-locus e1 (apricot, cream, lemon, red, yellow)
Order details
| Test number | 8995 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Test specifications
| Inheritance | Allelic series: E dominant over e1 and e2 |
| Gene | MC1R |
| Mutation | G-A |
| Literature | OMIA:001199-9615 |
