Table 2.
Comparison of ES to a targeted gene panel (<25 kb) and a comprehensive panel in all patients with a final diagnosis
| Patient ID | Gene | Selected targeted panel (<25 kb) | Selected comprehensive panel | Conclusion |
|---|---|---|---|---|
| 3 | CHRNE | CMS (13 genes) | NMD (344 genes) | Targeted and comprehensive |
| 4 | SGCA | LGMD (14 genes) | NMD (344 genes) | Targeted and comprehensive |
| 6 | RBCK1 | LGMD (14 genes) | NMD (344 genes) | Comprehensive only |
| 8 | SPG7 | HSP (9 genes) | HSP (56 genes) | Targeted and comprehensive |
| 9 | DMD, SCN4A | LGMD (14 genes) | NMD (344 genes) | Comprehensive only |
| 11 | MFN2 | HSP (9 genes) | HSP (56 genes) | None |
| 12 | SPAST | HSP (9 genes) | HSP (56 genes) | Targeted and comprehensive |
| 13 | CHRNE | CPEO (17 genes) | NMD (344 genes) | Comprehensive only |
| 17 | BICD2 | Infantile SMA (10 genes) | NMD (344 genes) | Targeted and comprehensive |
| 19 | CAPN3 | LGMD (14 genes) | NMD (344 genes) | Targeted and comprehensive |
| 22 | SPG7 | HSP (9 genes) | HSP (56 genes) | Targeted and comprehensive |
| 25 | SPG7 | HSP (9 genes) | HSP (56 genes) | Targeted and comprehensive |
| 27 | PABPN1 | Adult SMA (14 genes) | NMD (344 genes) | Comprehensive only |
| 32 | TTN | Distal myopathies (10 genes) | NMD (344 genes) | Comprehensive only |
| 35 | FA2H | HSP (9 genes) | HSP (56 genes) | Targeted and comprehensive |
| 38 | TRPV4 | Adult SMA (14 genes) | NMD (344 genes) | Comprehensive only |
| 39 | RYR1 | Congenital myopathies (7 genes) | NMD (344 genes) | Targeted and comprehensive |
| 40 | MYOT | IBM (4 genes) | NMD (344 genes) | Comprehensive only |
| 50 | KIF1A | HSP (9 genes) | HSP (56 genes) | Comprehensive only |
| 52 | PMP22 | Inherited neuropathies (14 genes) | NMD (344 genes) | Targeted and comprehensive |
| 53 | SPAST | HSP (9 genes) | NMD (344 genes) | Targeted and comprehensive |
| 54 | CPT2 | Metabolic myopathies (17 genes) | NMD (344 genes) | Targeted and comprehensive |
| 56 | CYP7B1 | HSP (9 genes) | HSP (56 genes) | Targeted and comprehensive |
| 59 | SCARB2 | Inherited neuropathies (14 genes) | NMD (344 genes) | None |
| 68 | SPG11 | HSP (9 genes) | HSP (56 genes) | Targeted and comprehensive |
| 69 | GDAP1 | Inherited neuropathies (14 genes) | NMD (344 genes) | Targeted and comprehensive |
| 70 | DYSF | Adult SMA (14 genes) | NMD (344 genes) | Comprehensive only |
CMS, congenital myasthenic syndrome; CPEO, chronic progressive external ophthalmoplegia; HSP, hereditary spastic paraplegia; IBM, inclusion body myopathy; LGMD, limb girdle muscular dystrophy; NMD, neuromuscular disorder; SMA, spinal muscular atrophy.