121 GENES Quality A: 44 genes coverage 100%, Quality C: 77 gene coverage >95% (30x). Del/dup analyses for PMP22 (additional MLPA P405) is recommended.
| Genes | AARS, ABHD12, AIFM1, ARHGEF10, ARSA, ATL1, ATL3, ATM, ATP1A1, ATP7A, BICD2, BSCL2, CCT5, COX6A1, CTDP1, DCAF8, DCTN1, DCTN2, DGAT2, DHTKD1, DNAH10, DNAJB2, DNAJB5, DNAJC3, DNM2, DNMT1, DRP2, DST, DYNC1H1, EGR2, ELP1, FAM134B, FBLN5, FBXO38, FGD4, FIG4, FLVCR1, GALC, GAN, GARS, GDAP1, GJB1, GJB3, GNB4, HARS, HINT1, HK1, HSPB1, HSPB3, HSPB8, IFRD1, IGHMBP2, INF2, KARS, KIF1A, KIF1B, KIF5A, LAS1L, LITAF, LMNA, LRIG3, LRSAM1, LRSAM1(exon 25), MARS, MED25, MFN2, MME, MORC2, MPZ, MTMR2, MYH14, MYO1A, NAGLU, NDRG1, NEFH, NEFL, NGF, NTRK1, PDK3, PEX1, PEX16, PEX7, PHYH, PLA2G6, PLEKHG5, PMP2, PMP22, PRDM12, PRPS1, PRX, RAB7A, REEP1, SBF1, SBF2, SCN10A, SCN11A, SCN9A, SEPT9, SETX, SH3TC2, SIGMAR1, SLC12A6, SLC25A46, SLC52A2, SLC52A3, SLC5A7, SOX10, SPG11, SPTLC1, SPTLC2, SPTLC3, SURF1, TBCE, TDP1, TFG, TRIM2, TRPV4, TUBB3, VCP, VRK1, WNK1, YARS |
|---|---|
| Lab method | NGS Sequencing |
| Turnaround time | 4 months |
| Location | Location AMC |
| Price | € 1.095,00 |
