Table 1 Genotypes of 20 patients with PCD detected by the iPLEX assay
From: Increased detection of primary carnitine deficiency through second-tier newborn genetic screening
| No | Genotype | iPLEX NICCD assay | Targeted NGS |
|---|---|---|---|
| 1 | c.760C > T/c.1400C > G | 6 | 6 |
| 2 | c.760C > T/c.760C > T | 3 | 3 |
| 3 | c.51C > G/c.760C > T | 2 | 2 |
| 4 | c.51C > G/c.51C > G | 2 | 2 |
| 5 | c.760C > T/c.797C > T | 2 | 2 |
| 6 | c.695C > T/c.1139C > T | 2 | 2 |
| 7 | c.51C > G/c.338G > A | 1 | 1 |
| 8 | c.51C > G/c.1195C > T | 1 | 1 |
| 9 | c.517delC/c.797C > T | 1 | 1 |
| Total | 20 | 20 | |