- Genetic tests
- Peripheral neuropathy (gene panel)
Peripheral neuropathy (gene panel)
Full name: |
Peripheral neuropathy (gene panel)
|
Test type: |
Clinical
|
Test specialty: |
Molecular Genetics
|
Test purpose: |
Post-natal Diagnosis
|
Specimen: |
Peripheral (whole) blood on EDTA,
DNA
|
Method category: | |
Method technique: | |
Laboratory: | |
RIZIV code: | |
Accreditation (ISO 15189): |
2023-11-09 / 2024-05-08
|
Turnaround time (maximum): |
6 months
|
Document(s): | |
Created: |
11 Dec 2020 - 09:59
|
Changed: |
22 Jan 2024 - 14:20
|
URL: |
- Autosomal dominant Charcot-Marie-Tooth disease type 2D
- Autosomal dominant Charcot-Marie-Tooth disease type 2DD
- Autosomal dominant Charcot-Marie-Tooth disease type 2F
- Autosomal dominant Charcot-Marie-Tooth disease type 2K
- Autosomal dominant Charcot-Marie-Tooth disease type 2L
- Autosomal dominant Charcot-Marie-Tooth disease type 2N
- Autosomal dominant Charcot-Marie-Tooth disease type 2W
- Autosomal dominant intermediate Charcot-Marie-Tooth disease type F
- Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
- Autosomal recessive axonal neuropathy with neuromyotonia
- Autosomal recessive intermediate Charcot-Marie-Tooth disease type A
- Autosomal recessive intermediate Charcot-Marie-Tooth disease type D
- Charcot-Marie-Tooth disease type 1D
- Charcot-Marie-Tooth disease type 2H
- Charcot-Marie-Tooth disease type 4A
- Charcot-Marie-Tooth disease type 4E
- Charcot-Marie-Tooth disease type 4G
- Charcot-Marie-Tooth disease type 4H
- Charcot-Marie-Tooth disease type 4J
- Dejerine-Sottas syndrome
- Distal hereditary motor neuropathy type 2
- Distal hereditary motor neuropathy type 5
- Muscular dystrophy, Selcen type
- Neuropathy with hearing impairment
- Severe neurodegenerative syndrome with lipodystrophy
- X-linked Charcot-Marie-Tooth disease type 1
- X-linked Charcot-Marie-Tooth disease type 4
- 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
- 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
-
Neuropathy (genepanel) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AARS1 99.94 1 ABCA1 99.92 1 ABHD12 99.11 1 ADPRS 100.00 1 AGTPBP1 99.40 1 AIFM1 99.43 1 ARHGEF10 100.00 1 ARSA 100.00 1 ATL1 99.95 1 ATL3 99.86 1 ATM 99.83 1 ATP1A1 99.94 1 ATP7A 99.35 1 B4GALNT1 99.95 1 BAG3 100.00 1 BICD2 100.00 1 BSCL2 100.00 1 CADM3 99.94 1 CD59 99.97 1 CFAP276 99.73 1 CHCHD10 97.06 1 CLTCL1 99.98 1 CNTNAP1 99.80 1 COA7 100.00 1 COX20 99.40 1 COX6A1 99.99 1 CTDP1 98.02 1 CTNNB1 99.98 1 CYP27A1 99.96 1 DARS2 99.86 1 DCAF8 99.98 1 DCTN1 99.95 1 DGAT2 99.99 1 DGUOK 99.76 1 DHTKD1 99.88 1 DNAJB2 100.00 1 DNAJC3 99.58 1 DNM2 99.96 1 DNMT1 99.88 1 DRP2 99.45 1 DST 99.92 1 DYNC1H1 99.97 1 EGR2 100.00 1 ELP1 99.96 1 ETFDH 99.76 1 FBLN5 92.79 1 FBXO38 99.93 1 FGD4 99.89 1 FIG4 99.94 1 FLVCR1 99.93 1 FXN 97.92 1 GALC 99.88 1 GAN 99.84 1 GARS1 99.86 1 GBA2 99.97 1 GBE1 99.84 1 GBF1 99.95 1 GDAP1 99.93 1 GJB1 99.99 1 GJB3 100.00 1 GJC2 96.12 1 GLA 99.64 1 GNB4 99.95 1 GSN 97.83 1 HADHA 99.96 1 HADHB 99.97 1 HARS1 99.99 1 HINT1 99.96 1 HK1 96.86 1 HNRNPA1 100.00 1 HOXD10 100.00 1 HSPB1 99.83 1 HSPB3 100.00 1 HSPB8 99.90 1 IARS2 99.96 1 IFRD1 99.96 1 IGHMBP2 99.99 1 INF2 97.15 1 ITPR3 99.88 1 JAG1 99.92 1 KIF1A 99.96 1 KIF5A 99.93 1 LITAF 100.00 1 LMNA 99.98 1 LRSAM1 99.97 1 LYST 99.92 1 MCM3AP 99.96 1 MFN2 99.96 1 MMACHC 99.99 1 MME 97.69 1 MORC2 99.98 1 MPV17 100.00 1 MPZ 99.97 1 MTMR2 99.98 1 MTRFR 99.85 1 MYH14 99.79 1 NAGA 99.99 1 NAGLU 98.00 1 NARS1 99.74 1 NDRG1 100.00 1 NEFH 98.77 1 NEFL 99.99 1 NGF 99.99 1 NTRK1 99.67 1 PCYT2 97.60 1 PDK3 98.86 1 PEX7 99.87 1 PHYH 99.65 1 PIEZO2 99.88 1 PLD3 99.99 1 PLEKHG5 99.66 1 PLP1 99.93 1 PMM2 99.94 1 PMP2 99.95 1 PMP22 100.00 1 PNKP 100.00 1 PNPLA6 99.88 1 POLG 99.98 1 POLR3B 99.88 1 PPOX 99.94 1 PRDM12 99.60 1 PRKCG 99.90 1 PRNP 100.00 1 PRPS1 99.79 1 PRX 99.94 1 PTEN 99.15 1 PTPN11 99.91 1 PTRH2 99.97 1 RAB7A 99.94 1 REEP1 99.99 1 RETREG1 99.92 1 RFC1 99.44 1 SACS 99.98 1 SBF1 99.97 1 SBF2 99.92 1 SCARB2 99.94 1 SCN10A 99.97 1 SCN11A 99.77 1 SCN9A 99.96 1 SCO2 100.00 1 SCYL1 99.64 1 SEPTIN9 99.94 1 SETX 99.96 1 SH3TC2 99.98 1 SIGMAR1 99.99 1 SLC12A6 99.88 1 SLC25A19 99.99 1 SLC25A46 99.93 1 SLC52A2 100.00 1 SLC52A3 100.00 1 SLC5A7 99.97 1 SORD 92.86 1 SOX10 100.00 1 SPAST 99.83 1 SPG11 99.94 1 SPG7 99.99 1 SPTAN1 99.97 1 SPTBN4 99.19 1 SPTLC1 99.98 1 SPTLC2 99.94 1 SPTLC3 99.94 1 SURF1 97.64 1 SYT2 99.89 1 TBCE 99.69 1 TBCK 99.76 1 TECPR2 99.90 1 TFG 99.34 1 TRIM2 99.99 1 TRPV4 99.96 1 TTPA 99.97 1 TTR 100.00 1 TUBB3 100.00 1 TWNK 100.00 1 UCHL1 99.99 1 VAPB 99.94 1 VCP 99.92 1 VPS13A 99.60 1 VRK1 99.94 1 VWA1 91.35 1 WARS1 99.79 1 WNK1 99.94 1 XRCC1 99.94 1 YARS1 99.96 1 ZFHX2 99.98 1 ZFYVE26 99.96 1