TARGETED PANELS PORTOFLIO / Neurologia
Neuropatias hereditárias (inclui charcot-marie-tooth)
GENES
- AARS
- ABCA1
- ABHD12
- AGTPBP1
- AGXT
- AIFM1
- AP1S1
- APOA1
- APTX
- ARHGEF10
- ARSA
- ATL1
- ATL3
- ATM
- ATP1A1
- ATP7A
- B4GALNT1
- BAG3
- BCKDHB
- BICD2
- BSCL2
- CD59
- CHCHD10
- CNTNAP1
- COA7
- COX6A1
- CPOX
- CTDP1
- CYP27A1
- DARS2
- DCTN1
- DEGS1
- DNAJB2
- DNAJC3
- DNM2
- DNMT1
- DRP2
- DST
- DYNC1H1
- EGR2
- ELP1
- ERCC6
- ERCC8
- ETFDH
- FAH
- FAM126A
- FBLN5
- FBXO38
- FGD4
- FIG4
- FLVCR1
- FXN
- GALC
- GAN
- GARS
- GBA2
- GDAP1
- GJB1
- GJC2
- GLA
- GNB4
- HADHA
- HADHB
- HARS
- HINT1
- HK1
- HMBS
- HSPB1
- HSPB8
- IARS2
- IGHMBP2
- INF2
- KCNA2
- KIF1A
- KIF5A
- LITAF
- LMNA
- LRSAM1
- LYST
- MCM3AP
- MFN2
- MMACHC
- MME
- MORC2
- MPV17
- MPZ
- MT-ATP6
- MTMR2
- MTRFR
- MT-RNR1
- MT-TL1
- MTTP
- MYH14
- NAGA
- NDRG1
- NEFH
- NEFL
- NGF
- NTRK1
- OPA1
- OPA3
- PDHA1
- PDYN
- PEX10
- PEX7
- PHYH
- PLEKHG5
- PLP1
- PMM2
- PMP2
- PMP22
- PNKP
- PNPLA6
- POLG
- POLR3A
- PPOX
- PRDM12
- PRKCG
- PRNP
- PRPS1
- PRX
- PTEN
- PTPN11
- PTRH2
- RAB7A
- REEP1
- RETREG1
- SACS
- SBF1
- SBF2
- SCARB2
- SCN10A
- SCN11A
- SCN9A
- SCYL1
- SEPTIN9
- SETX
- SH3TC2
- SIGMAR1
- SLC12A6
- SLC25A19
- SLC25A46
- SLC52A2
- SLC52A3
- SLC5A7
- SMN1*
- SOX10
- SPAST
- SPG11
- SPG7
- SPTLC1
- SPTLC2
- SUCLA2
- SURF1
- SYT2
- TFG
- TRIM2
- TRPA1
- TRPV4
- TTPA
- TTR
- TUBB3
- TWNK
- TYMP
- VCP
- VPS13A
- VRK1
- WARS
- WNK1
- XK
- XPA
- XRCC1
- YARS
- ZFYVE26