Ziektebeelden
Perifere neuropathie (PN)
Materiaal
Hoeveelheid
Afnamerecipient
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 v3):
AARS1, ABCA1, ABHD12, ADPRS, AGTPBP1, AIFM1, ARHGEF10, ARSA, ATL1, ATL3, ATM, ATP1A1, ATP7A, B4GALNT1, BAG3, BICD2, BSCL2, CADM3, CD59, CFAP276, CHCHD10, CLTCL1, CNTNAP1, COA7, COX20, COX6A1, CTDP1, CTNNB1, CYP27A1, DARS2, DCAF8, DCTN1, DGAT2, DGUOK, DHTKD1, 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, MT-ATP6, MTMR2, MTRFR, MYH14, 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, SEPTIN9, 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