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Comparative thalassemia genotyping results of Kit and NGS in MCV-high-risk neonatal cord blood samples, Guiyang, China, 2015 (N = 95).
| Mutation type | Cases detected by kit(n) | Cases detected by NGS(n) | Missed cases by kit(n) |
|---|---|---|---|
| --SEA/αα | 9 | 13 | 4 |
| –α3·7/αα | 2 | 3 | 1 |
| -α4·2/--SEA | 1 | 1 | 0 |
| –α4·2/αα | 0 | 1 | 1 |
| CD17 (A>T) heterozygous β0 | 5 | 8 | 3 |
| CD41-42 (-TTCT) heterozygous β | 0 | 2 | 2 |
| −28 heterozygous β | 1 | 0 | 0 |
| Compound heterozygote (--SEA + IVS-II-654) | 1 | 1 | 0 |
| Total | 19 | 29 | 11 |
