| Reverse dot blot hybridization, ASO, allele specific PCR—ARMS PCR |
Known point mutations/deletions of α and β globin genes |
| GAP-PCR |
Known deletions/duplications of α and β globin genes. Note: amplification of GC-rich regions may be difficult, risk of allele drop out: not recommended in PND |
| Sanger Sequencing/NGS |
point mutations in the whole sequence of α and β globin genes |
| High Resolution Melt Analysis (HRMA) |
point mutations in the whole sequence of α and β globin genes |
| MLPA |
Deletions/duplications in the whole α and β globin gene locus |
| arrayCGH |
Deletions/duplications in the whole α and β globin gene locus |
