Table 1.
Gene panel name | Capture method | Number of target genes | Probes (or amplicons) | Probe coverage size | Average number of probes per exon | Clinical use | Number of samples |
---|---|---|---|---|---|---|---|
IMD_HYB | Hybridization (HiSeq) |
259 | 19210 | 982,657 bps | 5.7 | Newborn screening | 30a (cell line) 36 (clinical) |
IMD_PCR | PCR (Ion S5) |
259 | 9072 (3 pools) |
1,216,913 bps | 2.7 | Newborn screening | 14 (cell line) 20 (clinical) |
IMD_V1 | PCR (Ion PGM) |
97 | 2054 (2 pools) |
338,961 bps | 1.8 | Newborn screening | 178 (clinical) |
IMD inherited metabolism disorder, HYB hybridization-based capture approach, PCR polymerase chain reaction-based capture approach, bps base pairs
a27 unique cell line. Total 30 samples were sequenced because two cell lines were generated 3 times respectively