Table 2.
Genetic screening (MLPA multiplex ligation dependent probe amplification, N/A not applicable)
| Gene | Location | Method of choice for mutation screening | Number of exons | Frequency in aHUS (%) |
|---|---|---|---|---|
| CFH | RCA gene Chr 1 | Direct sequencing analysis | 22 | 15–30 |
| CFI | Chr 4 | Direct sequencing analysis | 13 | 5–10 |
| MCP | RCA gene Chr 1 | Direct sequencing analysis | 14 | 10–15 |
| C3 | Chr 19 | Direct sequencing analysis | 42 | N/A |
| CFB | Chr 6 | Direct sequencing analysis | 18 | 2 |
| CFH-CFH R1 hybrid | RCA gene Chr 1 | MLPA | Lack of exons 21 and 22 of SCR20 in CFH gene | N/A |