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 | |