- Genetic tests
- Movement Disorders (gene panel)
Movement Disorders (gene panel)
Full name: |
Movement Disorders (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,
DNA
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Method category: | |
Method technique: | |
Laboratory: | |
RIZIV code: | |
EQA: |
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Turnaround time (maximum): |
6 months
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Document(s): |
Descriptif_Technique.pdf32.59 KB
Formulaire clinique_1.pdf178.95 KB
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Created: |
13 Dec 2022 - 16:39
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Changed: |
18 Jan 2024 - 16:11
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- AARS1
- ABAT
- ACTB
- ACTL6B
- ADAR
- ADCY5
- ADPRS
- AFG3L2
- AGTPBP1
- AIMP1
- ALDH5A1
- ALG13
- ALG6
- ALS2
- AMT
- ANO3
- AOPEP
- AP3D1
- AP4M1
- AP5Z1
- APTX
- ARG1
- ARHGEF9
- ARSA
- ARV1
- ARX
- ASAH1
- ASNS
- ASS1
- ATAD1
- ATCAY
- ATM
- ATN1
- ATP13A2
- ATP1A2
- ATP1A3
- ATP6AP2
- ATP7B
- ATP8A2
- ATXN2
- AUH
- BCAP31
- BCKDHA
- BCKDHB
- BCS1L
- BSCL2
- BTK
- C19ORF12
- C9ORF72
- CA8
- CACNA1A
- CACNA1B
- CACNA1E
- CACNA1G
- CACNB4
- CARS2
- CBS
- CDKL5
- CEP290
- CHCHD2
- CHMP2B
- CHRNA2
- CHRNA4
- CHRNB2
- CIZ1
- CLCN2
- CLCN3
- CLCN6
- CLPB
- CLTC
- CNTNAP1
- COASY
- COL6A3
- COQ8A
- COQ9
- COX10
- COX15
- COX20
- CP
- CRAT
- CRH
- CRLF1
- CSF1R
- CSTB
- CTC1
- CTDP1
- CTNNB1
- CTSA
- CTSD
- CTSF
- CUL4B
- CWF19L1
- CYB5R3
- CYFIP2
- CYP27A1
- DARS1
- DBT
- DCAF17
- DCC
- DCTN1
- DDC
- DEGS1
- DEPDC5
- DHDDS
- DHX30
- DLAT
- DLD
- DMXL2
- DNAJB2
- DNAJC12
- DNAJC13
- DNAJC19
- DNAJC5
- DNAJC6
- DNAL4
- DNM1L
- DNMT1
- EARS2
- ECHS1
- EEF1A2
- ELOVL4
- EPRS1
- ETHE1
- FA2H
- FARS2
- FASTKD2
- FBXL4
- FBXO7
- FGF14
- FITM2
- FOLR1
- FOXG1
- FOXRED1
- FRRS1L
- FTL
- FUCA1
- FUS
- FXN
- GABRA2
- GABRB2
- GALT
- GAMT
- GBA1
- GBE1
- GCDH
- GCH1
- GFAP
- GFM1
- GFM2
- GJC2
- GLB1
- GLDC
- GLRA1
- GLRB
- GM2A
- GNAL
- GNAO1
- GNB1
- GOSR2
- GPHN
- GPR88
- GRID2
- GRIN1
- GRIN2B
- GRN
- GSX2
- GTPBP2
- HECW2
- HEXA
- HEXB
- HIBCH
- HPRT1
- HSD17B10
- HTT
- IFIH1
- IREB2
- IRF2BPL
- IVD
- JAM2
- JPH3
- KCNA1
- KCNA2
- KCNA4
- KCNC3
- KCND3
- KCNMA1
- KCNQ2
- KCNT1
- KCTD17
- KCTD7
- KIF1C
- KIF5A
- KMT2B
- L2HGDH
- LIAS
- LIPT1
- LIPT2
- LMNB1
- LRPPRC
- LRRK2
- LYST
- MAPT
- MARS2
- MCEE
- MCOLN1
- MDH2
- MECP2
- MECR
- MED12
- MED20
- MEF2C
- MFSD8
- MICU1
- MMAA
- MMAB
- MMADHC
- MMUT
- MPV17
- MRE11
- MRPS34
- MTHFR
- MTR
- MTRFR
- MTRR
- MYBPC1
- MYORG
- NALCN
- NAXD
- NDUFA1
- NDUFA10
- NDUFA12
- NDUFA2
- NDUFA9
- NDUFAF2
- NDUFAF4
- NDUFAF5
- NDUFAF6
- NDUFS1
- NDUFS3
- NDUFS4
- NDUFS7
- NDUFS8
- NDUFV1
- NEU1
- NGLY1
- NHLRC2
- NKX2-1
- NKX6-2
- NPC1
- NPC2
- NTN1
- NTNG2
- NUP62
- OPA3
- PAH
- PANK2
- PARK7
- PCBD1
- PCCA
- PCCB
- PCDH12
- PCDH19
- PDE10A
- PDE2A
- PDE8B
- PDGFB
- PDGFRB
- PDHA1
- PDHB
- PDHX
- PDYN
- PEX16
- PGK1
- PIGP
- PINK1
- PLA2G6
- PLEKHG2
- PLP1
- PMM2
- PMPCB
- PNKD
- PNKP
- PNPLA8
- PNPT1
- PODXL
- POLG
- POLR1C
- POLR3A
- PPT1
- PRICKLE1
- PRKCG
- PRKN
- PRKRA
- PRNP
- PRRT2
- PTRHD1
- PTS
- PUM1
- PURA
- QDPR
- RAB11B
- RAB39B
- RAD51
- RELN
- REPS1
- RHOBTB2
- RNF216
- SACS
- SCARB2
- SCN11A
- SCN1A
- SCN2A
- SCN4A
- SCN8A
- SCP2
- SCYL1
- SDHA
- SDHAF1
- SDHD
- SEPSECS
- SERAC1
- SETD5
- SETX
- SGCE
- SLC16A2
- SLC18A2
- SLC19A3
- SLC1A3
- SLC20A2
- SLC25A19
- SLC25A42
- SLC2A1
- SLC30A10
- SLC30A9
- SLC39A14
- SLC39A8
- SLC44A1
- SLC6A1
- SLC6A3
- SLC6A5
- SLC6A8
- SLC9A6
- SMPD1
- SNCA
- SPG11
- SPOP
- SPR
- SPTBN2
- SQSTM1
- SRD5A3
- ST3GAL5
- STUB1
- STXBP1
- SUCLA2
- SUCLG1
- SUMF1
- SUOX
- SURF1
- SYNE1
- SYNJ1
- SYT1
- TACO1
- TAF1
- TANGO2
- TARDBP
- TBC1D24
- TBK1
- TBL1XR1
- TENM4
- TGM6
- TH
- THAP1
- TIMM8A
- TMEM240
- TOR1A
- TPI1
- TPK1
- TRAK1
- TRAPPC11
- TRAPPC12
- TREM2
- TRIT1
- TSC1
- TSC2
- TSEN2
- TSEN54
- TSFM
- TTPA
- TUBB4A
- TXN2
- TYROBP
- UBA5
- UBQLN2
- UBR4
- UBTF
- UFM1
- UGDH
- UNC13A
- UQCRQ
- VAC14
- VAMP1
- VAMP2
- VCP
- VPS13A
- VPS13C
- VPS13D
- VPS16
- VPS35
- VPS41
- VPS4A
- VWA3B
- WARS2
- WDR45
- WDR73
- WDR81
- WWOX
- XK
- XPA
- XPC
- XPR1
- YY1
- ZC4H2
- ZFYVE26
- ZNF142
-
Movement Disorders - ULG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AARS1 100.00 0 ABAT 100.00 0 ACTB 100.00 0 ACTL6B 100.00 0 ADAR 100.00 0 ADCY5 94.82 0 ADPRS 97.19 0 AFG3L2 95.73 0 AGTPBP1 97.48 0 AIMP1 100.00 0 ALDH5A1 91.82 0 ALG13 99.52 0 ALG6 100.00 0 ALS2 100.00 0 AMT 100.00 0 ANO3 99.99 0 AOPEP 98.17 0 AP3D1 100.00 0 AP4M1 100.00 0 AP5Z1 100.00 0 APTX 100.00 0 ARG1 100.00 0 ARHGEF9 100.00 0 ARSA 100.00 0 ARV1 100.00 0 ARX 76.27 0 ASAH1 100.00 0 ASNS 100.00 0 ASS1 100.00 0 ATAD1 100.00 0 ATCAY 100.00 0 ATM 100.00 0 ATN1 100.00 0 ATP13A2 99.13 0 ATP1A2 99.91 0 ATP1A3 100.00 0 ATP6AP2 98.93 0 ATP7B 100.00 0 ATP8A2 100.00 0 ATXN2 97.08 0 AUH 98.84 0 BCAP31 100.00 0 BCKDHA 100.00 0 BCKDHB 100.00 0 BCS1L 100.00 0 BSCL2 100.00 0 BTK 100.00 0 C19ORF12 100.00 0 C9ORF72 100.00 0 CA8 100.00 0 CACNA1A 100.00 0 CACNA1B 95.99 0 CACNA1E 99.97 0 CACNA1G 100.00 0 CACNB4 100.00 0 CARS2 95.22 0 CBS 100.00 0 CDKL5 99.33 0 CEP290 99.99 0 CHCHD2 100.00 0 CHMP2B 100.00 0 CHRNA2 99.97 0 CHRNA4 99.98 0 CHRNB2 100.00 0 CIZ1 99.96 0 CLCN2 100.00 0 CLCN3 100.00 0 CLCN6 100.00 0 CLPB 100.00 0 CLTC 100.00 0 CNTNAP1 100.00 0 COASY 100.00 0 COL6A3 100.00 0 COQ8A 100.00 0 COQ9 100.00 0 COX10 100.00 0 COX15 100.00 0 COX20 100.00 0 CP 99.98 0 CRAT 100.00 0 CRH 100.00 0 CRLF1 89.13 0 CSF1R 100.00 0 CSTB 100.00 0 CTC1 100.00 0 CTDP1 90.20 0 CTNNB1 100.00 0 CTSA 100.00 0 CTSD 100.00 0 CTSF 89.18 0 CUL4B 98.64 0 CWF19L1 100.00 0 CYB5R3 95.77 0 CYFIP2 100.00 0 CYP27A1 99.38 0 DARS1 100.00 0 DBT 100.00 0 DCAF17 99.11 0 DCC 100.00 0 DCTN1 100.00 0 DDC 100.00 0 DEGS1 100.00 0 DEPDC5 100.00 0 DHDDS 100.00 0 DHX30 100.00 0 DLAT 100.00 0 DLD 100.00 0 DMXL2 99.99 0 DNAJB2 100.00 0 DNAJC12 100.00 0 DNAJC13 100.00 0 DNAJC19 100.00 0 DNAJC5 100.00 0 DNAJC6 100.00 0 DNAL4 100.00 0 DNM1L 100.00 0 DNMT1 99.83 0 EARS2 100.00 0 ECHS1 100.00 0 EEF1A2 98.47 0 ELOVL4 100.00 0 EPRS1 100.00 0 ETHE1 100.00 0 FA2H 92.84 0 FARS2 100.00 0 FASTKD2 100.00 0 FBXL4 100.00 0 FBXO7 100.00 0 FGF14 100.00 0 FITM2 100.00 0 FOLR1 100.00 0 FOXG1 87.63 0 FOXRED1 100.00 0 FRRS1L 87.33 0 FTL 100.00 0 FUCA1 99.67 0 FUS 100.00 0 FXN 96.07 0 GABRA2 100.00 0 GABRB2 100.00 0 GALT 100.00 0 GAMT 98.07 0 GBA1 100.00 0 GBE1 100.00 0 GCDH 100.00 0 GCH1 98.16 0 GFAP 100.00 0 GFM1 100.00 0 GFM2 99.99 0 GJC2 88.27 0 GLB1 100.00 0 GLDC 97.21 0 GLRA1 100.00 0 GLRB 100.00 0 GM2A 100.00 0 GNAL 100.00 0 GNAO1 100.00 0 GNB1 100.00 0 GOSR2 100.00 0 GPHN 100.00 0 GPR88 77.04 0 GRID2 100.00 0 GRIN1 100.00 0 GRIN2B 100.00 0 GRN 100.00 0 GSX2 100.00 0 GTPBP2 99.48 0 HECW2 100.00 0 HEXA 100.00 0 HEXB 99.87 0 HIBCH 100.00 0 HPRT1 97.15 0 HSD17B10 100.00 0 HTT 99.18 0 IFIH1 100.00 0 IREB2 100.00 0 IRF2BPL 99.88 0 IVD 100.00 0 JAM2 100.00 0 JPH3 100.00 0 KCNA1 100.00 0 KCNA2 100.00 0 KCNA4 100.00 0 KCNC3 78.67 0 KCND3 100.00 0 KCNMA1 100.00 0 KCNQ2 100.00 0 KCNT1 99.92 0 KCTD17 95.63 0 KCTD7 99.64 0 KIF1C 100.00 0 KIF5A 100.00 0 KMT2B 96.75 0 L2HGDH 100.00 0 LIAS 100.00 0 LIPT1 100.00 0 LIPT2 92.08 0 LMNB1 98.51 0 LRPPRC 100.00 0 LRRK2 100.00 0 LYST 100.00 0 MAPT 100.00 0 MARS2 100.00 0 MCEE 100.00 0 MCOLN1 98.10 0 MDH2 100.00 0 MECP2 100.00 0 MECR 100.00 0 MED20 100.00 0 MEF2C 100.00 0 MFSD8 100.00 0 MICU1 100.00 0 MMAA 100.00 0 MMAB 100.00 0 MMADHC 100.00 0 MMUT 100.00 0 MPV17 100.00 0 MRE11 100.00 0 MRPS34 99.28 0 MTHFR 100.00 0 MTR 100.00 0 MTRFR 100.00 0 MTRR 100.00 0 MYBPC1 100.00 0 MYORG 100.00 0 NALCN 100.00 0 NAXD 100.00 0 NDUFA1 100.00 0 NDUFA10 99.52 0 NDUFA12 100.00 0 NDUFA2 100.00 0 NDUFA9 100.00 0 NDUFAF2 100.00 0 NDUFAF4 100.00 0 NDUFAF5 100.00 0 NDUFAF6 95.34 0 NDUFS1 100.00 0 NDUFS3 100.00 0 NDUFS4 100.00 0 NDUFS7 100.00 0 NDUFS8 100.00 0 NDUFV1 100.00 0 NEU1 100.00 0 NGLY1 100.00 0 NHLRC2 100.00 0 NKX2-1 89.99 0 NKX6-2 70.62 0 NPC1 100.00 0 NPC2 100.00 0 NTN1 94.10 0 NTNG2 91.87 0 NUP62 100.00 0 MED12 100.00 0 OPA3 100.00 0 PAH 100.00 0 PANK2 95.70 0 PARK7 100.00 0 PODXL 96.85 0 PCBD1 92.74 0 PCCA 100.00 0 PCCB 100.00 0 PCDH12 100.00 0 PCDH19 100.00 0 PDE10A 100.00 0 PDE2A 100.00 0 PDE8B 97.56 0 PDGFB 100.00 0 PDGFRB 100.00 0 PDHA1 100.00 0 PDHB 100.00 0 PDHX 100.00 0 PDYN 100.00 0 PEX16 100.00 0 PGK1 100.00 0 PIGP 100.00 0 PINK1 91.10 0 PLA2G6 100.00 0 PLEKHG2 100.00 0 PLP1 100.00 0 PMM2 100.00 0 PMPCB 100.00 0 PNKD 100.00 0 PNKP 100.00 0 PNPLA8 100.00 0 PNPT1 100.00 0 POLG 100.00 0 POLR1C 100.00 0 POLR3A 100.00 0 PPT1 100.00 0 PRICKLE1 100.00 0 PRKCG 100.00 0 PRKN 100.00 0 PRKRA 100.00 0 PRNP 100.00 0 PRRT2 100.00 0 PTRHD1 100.00 0 PTS 100.00 0 PUM1 100.00 0 PURA 88.25 0 QDPR 99.38 0 RAB11B 100.00 0 RAB39B 100.00 0 RAD51 100.00 0 RELN 100.00 0 REPS1 100.00 0 RHOBTB2 100.00 0 RNF216 100.00 0 SACS 100.00 0 SCARB2 100.00 0 SCN11A 99.99 0 SCN1A 100.00 0 SCN2A 100.00 0 SCN4A 100.00 0 SCN8A 100.00 0 SCP2 100.00 0 SCYL1 100.00 0 SDHA 98.70 0 SDHAF1 96.31 0 SDHD 100.00 0 SEPSECS 100.00 0 SERAC1 100.00 0 SETD5 100.00 0 SETX 100.00 0 SGCE 100.00 0 SLC16A2 100.00 0 SLC18A2 100.00 0 SLC19A3 99.96 0 SLC1A3 100.00 0 SLC20A2 100.00 0 SLC25A19 100.00 0 SLC25A42 99.96 0 SLC2A1 100.00 0 SLC30A10 100.00 0 SLC30A9 100.00 0 SLC39A14 99.95 0 SLC39A8 99.72 0 SLC44A1 97.36 0 SLC6A1 100.00 0 SLC6A3 100.00 0 SLC6A5 100.00 0 SLC6A8 96.54 0 SLC9A6 97.84 0 SMPD1 100.00 0 SNCA 100.00 0 SPG11 100.00 0 SPOP 100.00 0 SPR 97.94 0 SPTBN2 100.00 0 SQSTM1 95.44 0 SRD5A3 98.74 0 ST3GAL5 92.43 0 STUB1 99.46 0 STXBP1 100.00 0 SUCLA2 100.00 0 SUCLG1 99.97 0 SUMF1 100.00 0 SUOX 100.00 0 SURF1 92.90 0 SYNE1 100.00 0 SYNJ1 100.00 0 SYT1 100.00 0 TACO1 99.96 0 TAF1 100.00 0 TANGO2 100.00 0 TARDBP 100.00 0 TBC1D24 100.00 0 TBK1 100.00 0 TBL1XR1 100.00 0 TENM4 100.00 0 TGM6 100.00 0 TH 100.00 0 THAP1 100.00 0 TIMM8A 100.00 0 TMEM240 100.00 0 TOR1A 100.00 0 TPI1 100.00 0 TPK1 100.00 0 TRAK1 100.00 0 TRAPPC11 100.00 0 TRAPPC12 100.00 0 TREM2 100.00 0 TRIT1 100.00 0 TSC1 100.00 0 TSC2 100.00 0 TSEN2 100.00 0 TSEN54 94.95 0 TSFM 92.64 0 TTPA 87.42 0 TUBB4A 100.00 0 TXN2 100.00 0 TYROBP 100.00 0 UBA5 100.00 0 UBQLN2 99.91 0 UBR4 99.78 0 UBTF 100.00 0 UFM1 100.00 0 UGDH 100.00 0 UNC13A 99.92 0 UQCRQ 100.00 0 VAC14 100.00 0 VAMP1 100.00 0 VAMP2 100.00 0 VCP 98.45 0 VPS13A 100.00 0 VPS13C 100.00 0 VPS13D 100.00 0 VPS16 100.00 0 VPS35 100.00 0 VPS41 100.00 0 VPS4A 100.00 0 VWA3B 100.00 0 WARS2 100.00 0 WDR45 100.00 0 WDR73 100.00 0 WDR81 100.00 0 WWOX 100.00 0 XK 99.86 0 XPA 99.77 0 XPC 100.00 0 XPR1 100.00 0 YY1 100.00 0 ZC4H2 100.00 0 ZFYVE26 100.00 0 ZNF142 100.00 0