Molecular diagnostic methods for thalassemia.
Mutation type | Method |
---|---|
Deletion | Gap PCR |
MLPAa,b) | |
Non-deletion | Allele-specific PCR |
Reverse dot blotting | |
Denaturing gradient gel electrophoresis | |
ARMS | |
Sanger sequencinga) | |
Next-generation sequencinga) |
a)Methods currently applied in clinical laboratories in Korea. b)Commercial kits available [SALSA MLPA Probemix P140 and P102 (MRC-Holland, Amsterdam, The Netherlands)].
Abbreviations: ARMS, amplification refractory mutation system; MLPA, multiplex ligation-dependent probe amplification; PCR, polymerase chain reaction.