General description
includes the following tests: genetic blood group, Pyruvate kinase deficiency (PK), Colourpoint, Dilution
Siberian
Order details
| Test number | 8840 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Colourpoint (siam/mink/burma)
Pyruvate kinase deficiency (PK)
Test specifications
| Symptom complex | hematologic |
| Inheritance | autosomal recessive |
| Causality | causally |
| Gene | PKLR |
| Mutation | G-A |
| Literature | OMIA:000844-9685 |
Dilution
Test specifications
| Inheritance | Allelic series: D dominant over d |
| Gene | MLPH |
| Mutation | DEL |
| Literature | OMIA:000031-9685 |
Genetic blood group
Test specifications
| Symptom complex | hematologic |
| Inheritance | Allelische Reihe nach Dominanz: N>c>b |
| Causality | causally |
| Gene | CMAH |
| Mutation | COMPLEX |
| Literature | OMIA:000119-9685 |
