- Genetic tests
- Neuropathy (gene panel)
Neuropathy (gene panel)
Full name: |
Neuropathy (gene panel)
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Test type: |
Clinical
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Test specialty: |
Molecular Genetics
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Test purpose: |
Post-natal Diagnosis
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Specimen: |
Peripheral (whole) blood on EDTA
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Method category: | |
Method technique: | |
Laboratory: | |
RIZIV code: | |
Turnaround time (maximum): |
6 months
|
Document(s): | |
Created: |
15 Dec 2021 - 21:40
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Changed: |
21 Dec 2022 - 13:19
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URL: |
- AARS1
- ABCA1
- ABHD12
- AGTPBP1
- AGXT
- AHNAK2
- AIFM1
- AMACR
- AP1S1
- APOA1
- APTX
- AR
- ARHGEF10
- ARSA
- ASAH1
- ASCC1
- ATAD3A
- ATL1
- ATL3
- ATM
- ATP1A1
- ATP7A
- B4GALNT1
- BAG3
- BCKDHB
- BICD2
- BSCL2
- CCT5
- CD59
- CFAP276
- CHCHD10
- CNTNAP1
- COA7
- COX6A1
- CPOX
- CTDP1
- CYP27A1
- DARS2
- DCAF8
- DCTN1
- DEGS1
- DGAT2
- DGUOK
- DHTKD1
- DNAJB2
- DNAJC3
- DNM2
- DNMT1
- DRP2
- DST
- DYNC1H1
- EGR2
- ELP1
- ERCC6
- ERCC8
- ETFDH
- EXOSC3
- EXOSC8
- EXOSC9
- FANCA
- FBLN5
- FBXO38
- FGD4
- FIG4
- FLVCR1
- FXN
- GALC
- GAN
- GARS1
- GBA2
- GBF1
- GDAP1
- GJB1
- GJC2
- GLA
- GNB4
- GNE
- GSN
- HADHA
- HADHB
- HARS1
- HCRT
- HINT1
- HK1
- HMBS
- HSPB1
- HSPB3
- HSPB8
- HYCC1
- IARS2
- IGHMBP2
- INF2
- ITPR3
- JAG1
- KARS1
- KCNA2
- KIF1A
- KIF1B
- KIF26B
- KIF5A
- LITAF
- LMNA
- LRSAM1
- LYST
- MARS1
- MCM3AP
- MED12
- MFN2
- MICAL1
- MMACHC
- MME
- MORC2
- MPV17
- MPZ
- MTMR2
- MTRFR
- MTTP
- MYH7B
- NAGA
- NAGLU
- NDRG1
- NEFH
- NEFL
- NGF
- NMNAT2
- NTRK1
- OPA3
- PDHA1
- PDK3
- PDYN
- PEX10
- PEX7
- PHYH
- PLEKHG5
- PLP1
- PMM2
- PMP2
- PMP22
- PNKP
- PNPLA6
- POLG
- POLG2
- POLR3A
- PRDM12
- PRKCG
- PRPS1
- PRUNE1
- PRX
- PTEN
- PTPN11
- PTRH2
- RAB7A
- RBM7
- REEP1
- RETREG1
- SACS
- SBF1
- SBF2
- SCARB2
- SCN10A
- SCN11A
- SCN9A
- SCO2
- SCYL1
- SEPTIN9
- SETX
- SGPL1
- SH3TC2
- SIGMAR1
- SLC12A6
- SLC25A19
- SLC25A21
- SLC25A46
- SLC52A2
- SLC52A3
- SLC5A7
- SMN1
- SMN2
- SORD
- SOX10
- SPAST
- SPG11
- SPG7
- SPTAN1
- SPTBN4
- SPTLC1
- SPTLC2
- SUCLA2
- SURF1
- TFG
- TRIM2
- TRIP4
- TRPA1
- TRPV4
- TTPA
- TTR
- TUBB3
- TWNK
- TYMP
- UBA1
- VAPB
- VCP
- VPS13A
- VRK1
- WARS1
- WNK1
- XK
- XPA
- XRCC1
- YARS1
- ZFYVE26
-
Neuropathy panel - UGent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AARS1 99.99 1 ABCA1 99.92 1 ABHD12 99.98 1 AGTPBP1 99.68 1 AGXT 100.00 1 AHNAK2 97.58 1 AIFM1 99.92 1 AMACR 100.00 1 AP1S1 99.49 1 APOA1 100.00 1 APTX 99.92 1 AR 99.76 1 ARHGEF10 100.00 1 ARSA 99.99 1 ASAH1 99.90 1 ASCC1 90.99 1 ATAD3A 99.62 1 ATL1 99.95 1 ATL3 99.75 1 ATM 99.83 1 ATP1A1 98.41 1 ATP7A 99.87 1 B4GALNT1 99.97 1 BAG3 100.00 1 BCKDHB 99.73 1 BICD2 99.99 1 BSCL2 99.99 1 CFAP276 98.35 1 CCT5 99.99 1 CD59 100.00 1 CHCHD10 100.00 1 CNTNAP1 99.98 1 COA7 99.91 1 COX6A1 99.98 1 CPOX 99.99 1 CTDP1 99.97 1 CYP27A1 100.00 1 DARS2 98.31 1 DCAF8 99.83 1 DCTN1 99.98 1 DEGS1 99.99 1 DGAT2 99.99 1 DGUOK 99.93 1 DHTKD1 99.95 1 DNAJB2 99.97 1 DNAJC3 99.92 1 DNM2 99.99 1 DNMT1 99.13 1 DRP2 99.94 1 DST 99.52 1 DYNC1H1 99.99 1 EGR2 100.00 1 ELP1 99.96 1 ERCC6 99.60 1 ERCC8 99.79 1 ETFDH 99.82 1 EXOSC3 100.00 1 EXOSC8 99.91 1 EXOSC9 94.91 1 FANCA 99.98 1 HYCC1 99.81 1 FBLN5 100.00 1 FBXO38 99.96 1 FGD4 99.87 1 FIG4 99.83 1 FLVCR1 99.91 1 FXN 99.96 1 GALC 99.92 1 GAN 99.98 1 GARS1 99.93 1 GBA2 99.99 1 GBF1 99.97 1 GDAP1 99.98 1 GJB1 100.00 1 GJC2 100.00 1 GLA 99.90 1 GNB4 99.96 1 GNE 99.99 1 GSN 99.93 1 HADHA 99.98 1 HADHB 99.82 1 HARS1 99.96 1 HINT1 99.86 1 HK1 99.97 1 HMBS 99.97 1 HSPB1 99.97 1 HSPB3 99.97 1 HSPB8 100.00 1 IARS2 99.77 1 IGHMBP2 99.92 1 INF2 99.99 1 ITPR3 99.98 1 JAG1 100.00 1 KARS1 99.98 1 KCNA2 99.99 1 KIF1A 99.96 1 KIF1B 99.97 1 KIF26B 100.00 1 KIF5A 99.91 1 LITAF 83.22 1 LMNA 99.96 1 LRSAM1 99.99 1 LYST 99.87 1 MARS1 99.97 1 MCM3AP 99.98 1 MFN2 99.98 1 MICAL1 99.99 1 MMACHC 99.98 1 MME 97.17 1 MORC2 100.00 1 MPV17 99.98 1 MPZ 99.99 1 MTMR2 99.94 1 MTRFR 99.87 1 MTTP 99.92 1 MYH7B 99.98 1 NAGA 100.00 1 NAGLU 100.00 1 NDRG1 99.99 1 NEFH 100.00 1 NEFL 100.00 1 NGF 100.00 1 NMNAT2 99.79 1 NTRK1 99.86 1 MED12 99.95 1 OPA3 100.00 1 PDHA1 99.04 1 PDK3 99.49 1 PDYN 100.00 1 PEX10 100.00 1 PEX7 99.72 1 PHYH 100.00 1 PLEKHG5 99.99 1 PLP1 99.98 1 PMM2 99.93 1 PMP2 99.93 1 PMP22 100.00 1 PNKP 100.00 1 PNPLA6 99.99 1 POLG 100.00 1 POLG2 99.51 1 POLR3A 99.97 1 HCRT 99.85 1 PRDM12 100.00 1 PRKCG 99.99 1 PRPS1 99.95 1 PRUNE1 99.85 1 PRX 99.99 1 PTEN 99.89 1 PTPN11 99.98 1 PTRH2 99.99 1 RAB7A 100.00 1 RBM7 99.99 1 REEP1 99.97 1 RETREG1 99.99 1 SACS 99.97 1 SBF1 99.99 1 SBF2 99.77 1 SCARB2 99.99 1 SCN10A 99.99 1 SCN11A 99.94 1 SCN9A 99.83 1 SCO2 100.00 1 SCYL1 100.00 1 SEPTIN9 99.99 1 SETX 99.97 1 SGPL1 99.95 1 SH3TC2 100.00 1 SIGMAR1 99.99 1 SLC12A6 99.98 1 SLC25A19 99.99 1 SLC25A21 99.98 1 SLC25A46 99.88 1 SLC52A2 100.00 1 SLC52A3 99.94 1 SLC5A7 99.57 1 SMN1 7.60 1 SMN2 6.68 1 SORD 85.52 1 SOX10 100.00 1 SPAST 99.77 1 SPG11 99.89 1 SPG7 99.99 1 SPTAN1 99.96 1 SPTBN4 99.91 1 SPTLC1 99.74 1 SPTLC2 99.95 1 SUCLA2 99.96 1 SURF1 100.00 1 TFG 98.68 1 TRIM2 99.98 1 TRIP4 99.97 1 TRPA1 99.67 1 TRPV4 100.00 1 TTPA 99.88 1 TTR 100.00 1 TUBB3 100.00 1 TWNK 100.00 1 TYMP 99.87 1 UBA1 99.93 1 VAPB 100.00 1 VCP 99.99 1 VPS13A 99.68 1 VRK1 99.98 1 WARS1 99.97 1 WNK1 99.98 1 XK 99.98 1 XPA 99.68 1 XRCC1 99.96 1 YARS1 99.29 1 ZFYVE26 100.00 1