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 |
Causality | causally |
Gene | PKLR |
Mutation | G-A |
Literature | OMIA:000844-9685 |
Genetic blood group
Test specifications
Symptom complex | hematologic |
Causality | causally |
Gene | CMAH |
Mutation | COMPLEX |
Literature | OMIA:000119-9685 |