General description
enthält (15 Euro Patentgebühr für DM Exon2): Degenerative Myelopathie (DM Exon2), Neonatale Enzephalopathie (NEWS), Progressive Retinaatrophie** (prcd-PRA) (Partnerlabor), Progressive Retinaatrophie (rcd4-PRA), von Willebrand Erkrankung Typ I (vWD 1), A-Lokus, B-Lokus, D-Lokus d1, E-Lokus e1, I-Lokus, K-Lokus, S-Lokus
Labradoodle, Miniature Poodle, Poodle, Toy Poodle
Order details
| Test number | 8857 |
| Sample material | 0,5 ml EDTA Blut, 2x Backenabstrich, 1x Spezialabstrich (eNAT) |
| Test duration | 7-14 Werktage |
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 |
K-locus (test for KB allele only)
Test specifications
| Inheritance | Allelic series: KB dominant over ky |
| Gene | CBD103 |
| Mutation | INS |
| Literature | OMIA:001416-9615 |
Neonatal encephalopathy with seizures (NEWS)
Test specifications
| Symptom complex | neurological |
| Inheritance | autosomal recessive |
| Age of onset | from birth |
| Causality | causally |
| Gene | ATF2 |
| Mutation | A-C |
| Literature | OMIA:001471-9615 |
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 |
I-locus (pheomelanin intensity)
Test specifications
| Inheritance | Allelic series: I dominant over i |
| Gene | MFSD12 |
| Mutation | C-T |
| Literature | OMIA:002197-9615 |
Progressive retinal atrophy (rcd4-PRA)
Test specifications
| Symptom complex | ophthalmic |
| Inheritance | autosomal recessive |
| Age of onset | 5-12 years |
| Causality | causally |
| Gene | PCARE |
| Mutation | INS |
| Literature | OMIA:001575-9615 |
S-locus (piebald, white spotting)
E-locus e1 (apricot, cream, lemon, red, yellow)
Test specifications
| Inheritance | Allelic series: E dominant over e1 and e2 |
| Gene | MC1R |
| Mutation | G-A |
| Literature | OMIA:001199-9615 |
B-locus (alleles: bd, bc, bs) (brown, chocolate, liver(nose))
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 (prcd-PRA)
Test specifications
| Symptom complex | ophthalmic |
| Inheritance | autosomal recessive |
| Causality | causally |
| Gene | PRCD |
| Mutation | C-T |
| Literature | OMIA:001298-9615 |
