Table 2.
Outcomes of PH2 and PH3 step 1 and step 2 testing
| Allele 1 | Allele 2 | No. of patients |
|---|---|---|
| (A) PH2 testing | ||
| c.103delG | c.103delG | 4 |
| c.494G>A | c.494G>A | 3 |
| 403_404+2delAAGT | 403_404+2delAAGT | 3 |
| 84-8_84-5delCCCC; 84-13_84-12delCC | 84-8_84-5delCCCC; 84-13_84-12delCC | 1 |
| c.103delG | c.288-2delAGT | 1 |
| c.102G>A | c.965T>C | 1 |
| c.295C>T | c.493+2T>A | 1 |
| c.494G>A | c.203T>C | 1 |
| c.743T>A | c.743T>A | 1 |
| (B) PH3 testing | ||
| c.700+5G>T | c.700+5G>T | 8 |
| c.107C>T | c.700+5G>T | 1 |
| c.107C>T | c.860G>T | 1 |
| c.110G>T | c.953G>A | 1 |
| c.700+5G>T | c.907C>T | 1 |
| c.700+5G>T | c.944_946delAGG | 1 |
| c.860G>T | c.944_946del AGG | 1 |
| c.875T>C | c.875T>C | 1 |
| c.208C>T | c.700+5G>T | 1 |
All patients who tested negative for PH1 progressed to PH2 and PH3 Step 1 testing. PH2 step 2 and PH3 step 2 testing was performed in 43 and 32 patients, respectively, as requested by the referring clinicians. Novel variants are shown in bold. PH, primary hyperoxaluria.