Ziektebeelden
Perifere neuropathie (PN)
Materiaal
Hoeveelheid
Afnamerecipiënt
Aanvraagformulieren
Acceptatie criteria
Duidelijke vraagstelling en indicatie + WES-toestemmingsformulier
Analyse van index en (indien mogelijk) aangedane familieleden
Resultaattermijn
6 mnd
Methode
Whole exome sequencing (WES) gevolgd door filtering op genenpanel voor perifere neuropathie (WESPN) ism UMC Radboud (sequenering)
Accreditering
Aanvullende informatie
Samenstelling genenpanel (panel perifere neuropathie v4):
AARS1, ABCA1, ABHD12, ADPRS (ADPRHL2), AGTPBP1, AIFM1, ARHGEF10, ARSA, ATL1, ATL3, ATM, ATP1A1, ATP7A, B4GALNT1, BAG3, BICD2, BSCL2, C1orf194 (CFAP276), CADM3, CD59, CHCHD10, CLTCL1, CNTNAP1, COA7, COQ7, COX20, COX6A1, CTDP1, CTNNB1, CYP27A1, DARS2, DCAF8, DCTN1, DGAT2, DGUOK, DHTKD1, DHX9, DNAJB2, DNAJC3, DNM2, DNMT1, DRP2, DST, DYNC1H1, EGR2, ELP1, ETFDH, FBLN5, FBXO38, FGD4, FIG4, FLVCR1, FXN, GALC, GAN, GARS1, GBA2, GBE1, GBF1, GDAP1, GJB1, GJB3, GJC2, GLA, GNB4, GSN, HADHA, HADHB, HARS1, HINT1, HK1, HNRNPA1, HOXD10, HSPB1, HSPB3, HSPB8, IARS2, IFRD1, IGHMBP2, INF2, ITPR3, JAG1, KIF1A, KIF5A, LITAF, LMNA, LRSAM1, LYST, MCM3AP, MFN2, MMACHC, MME, MORC2, MPV17, MPZ, MTMR2, MTRFR, MYH14, MYO9B, NAGA, NAGLU, NARS1, NDRG1, NEFH, NEFL, NGF, NTRK1, PCYT2, PDK3, PEX7, PHYH, PIEZO2, PLD3, PLEKHG5, PLP1, PMM2, PMP2, PMP22, PNKP, PNPLA6, POLG, POLR3B, PPOX, PRDM12, PRKCG, PRNP, PRPS1, PRX, PTEN, PTPN11, PTRH2, RAB7A, REEP1, RETREG1, RFC1, SACS, SBF1, SBF2, SCARB2, SCN10A, SCN11A, SCN9A, SCO2, SCYL1, SEPT9, SETX, SH3TC2, SIGMAR1, SLC12A6, SLC25A19, SLC25A46, SLC52A2, SLC52A3, SLC5A7, SORD, SOX10, SPAST, SPG11, SPG7, SPTAN1, SPTBN4, SPTLC1, SPTLC2, SPTLC3, SURF1, SYT2, TBCE, TBCK, TECPR2, TFG, TRIM2, TRPV4, TTPA, TTR, TUBB3, TWNK, UCHL1, VAPB, VCP, VPS13A, VRK1, VWA1, WARS1, WNK1, XRCC1, YARS1, ZFHX2, ZFYVE26