Table 4 Distribution of variant types and molecular genetic testing in PKU
From: Identification of phenylketonuria patient genotypes using single-gene full-length sequencing
Variant types | Proportion of Probands | Molecular Genetic Testing |
|---|---|---|
SNV/Indel | 94.4% (645/683) | Sequence analysis |
In exons and flanking intron regions | 89.6% (612/683) | sanger sequencing, gene panel, WES, WGS, single-gene full-length sequencing |
In deep introns | 4.8% (33/683) | WGS, single-gene full-length sequencing |
PAH deletion/duplication | 5.6% (38/683) | Gene-targeted deletion/duplication analysis: quantitative PCR, long-range PCR, MLPA, WGS, single-gene full-length sequencing |