- Genetic tests
- Ataxia Spasticity (gene panel)
Ataxia Spasticity (gene panel)
Full name: |
Ataxia Spasticity (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
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Document(s): | |
Created: |
26 Jul 2019 - 16:13
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Changed: |
16 Dec 2022 - 10:27
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- AAAS
- AARS1
- ABCA2
- ABCB7
- ABCD1
- ABHD12
- ACD
- ACO2
- ADAR
- ADGRG1
- ADPRS
- AFG3L2
- AGTPBP1
- AHI1
- AIFM1
- AIMP1
- ALDH18A1
- ALDH5A1
- ALG6
- ALS2
- AMPD2
- ANO10
- AP4B1
- AP4E1
- AP4M1
- AP4S1
- AP5Z1
- APOB
- APTX
- ARG1
- ARL13B
- ARL6IP1
- ARSA
- ARSI
- ARX
- ASPA
- ATCAY
- ATG5
- ATL1
- ATM
- ATP13A2
- ATP1A3
- ATP2B3
- ATP7B
- ATP8A2
- AUH
- B4GALNT1
- BCKDHA
- BCKDHB
- BCL11B
- BCS1L
- BICD2
- BSCL2
- BTD
- C19ORF12
- CA8
- CACNA1A
- CACNA1E
- CACNA1G
- CACNB4
- CAMTA1
- CAPN1
- CC2D2A
- CCDC88C
- CCT5
- CDK16
- CEP290
- CHP1
- CLCN2
- CNTNAP1
- COA7
- COQ2
- COQ4
- COQ8A
- COQ9
- COX10
- COX15
- COX20
- CP
- CPT1C
- CSTB
- CTBP1
- CWF19L1
- CYP27A1
- CYP2U1
- CYP7B1
- DAB1
- DARS1
- DARS2
- DBT
- DDHD1
- DDHD2
- DDX3X
- DEGS1
- DLAT
- DLD
- DNAJC19
- DNAJC3
- DNAJC5
- DNMT1
- DOCK3
- EARS2
- EBF3
- ECHS1
- EEF2
- EIF2AK1
- ELOVL1
- ELOVL4
- ELOVL5
- EMC1
- ENTPD1
- EPM2A
- ERCC1
- ERCC2
- ERCC4
- ERCC8
- ERLIN1
- ERLIN2
- EXOSC3
- FA2H
- FARS2
- FASTKD2
- FAT2
- FGF14
- FITM2
- FLRT1
- FLVCR1
- FOLR1
- FRMD4A
- FRMD7
- GALC
- GAN
- GBA2
- GBE1
- GDAP2
- GFAP
- GFM2
- GJC2
- GLB1
- GLRX5
- GLS
- GM2A
- GOSR2
- GPR143
- GRID2
- GRIN1
- GRM1
- GRN
- GSX2
- HACE1
- HEXA
- HEXB
- HSD17B10
- HSD17B4
- HSPD1
- IBA57
- IFIH1
- IFRD1
- IFT140
- INTS8
- IRF2BPL
- ISCA1
- ITM2B
- ITPR1
- JAM2
- KANK1
- KCNA1
- KCNA2
- KCNA4
- KCNC3
- KCND3
- KCNJ10
- KCNJ6
- KCNMA1
- KCNQ2
- KCTD7
- KIDINS220
- KIF1A
- KIF1C
- KIF5A
- KLC2
- L1CAM
- L2HGDH
- LAMA1
- LAMB1
- LIPT2
- LYRM7
- LYST
- MAN2B1
- MARS1
- MARS2
- MCOLN1
- MECP2
- MED12
- MLC1
- MMADHC
- MME
- MPV17
- MRE11
- MRPS34
- MSTO1
- MTCL1
- MTPAP
- MTRFR
- MTTP
- MYORG
- NANS
- NDUFA9
- NDUFAF4
- NDUFAF6
- NDUFS1
- NDUFS3
- NDUFS7
- NEFL
- NEU1
- NEXMIF
- NF2
- NHLRC1
- NIPA1
- NKX6-2
- NOL3
- NPC1
- NPC2
- NT5C2
- NTNG2
- NUP93
- NUS1
- OCLN
- OFD1
- OPA3
- OPHN1
- OTC
- PARS2
- PCDH12
- PCYT2
- PDHA1
- PDHX
- PDYN
- PEX10
- PEX16
- PEX7
- PGAP1
- PHYH
- PIK3R5
- PLA2G6
- PLAA
- PLD3
- PLP1
- PMM2
- PMPCA
- PMPCB
- PNKP
- PNPLA6
- PODXL
- POLG
- POLR3A
- POLR3B
- PRF1
- PRKCG
- PRNP
- PRPS1
- PRRT2
- PSAP
- PSEN1
- PTPN23
- PTRH2
- PUM1
- RAB11B
- RAB18
- RAB3GAP1
- RAB3GAP2
- REEP1
- REEP2
- RETREG1
- RNASEH2A
- RNASEH2B
- RNASEH2C
- RNF168
- RNF170
- RNF216
- RORA
- RPGRIP1L
- RTN2
- RTN4IP1
- RUBCN
- SACS
- SAMD9L
- SAMHD1
- SARS1
- SCN8A
- SCYL1
- SDHA
- SDHAF1
- SDHD
- SEPSECS
- SETX
- SIL1
- SLC13A5
- SLC16A2
- SLC17A5
- SLC19A3
- SLC1A3
- SLC1A4
- SLC25A15
- SLC25A46
- SLC2A1
- SLC33A1
- SLC44A1
- SLC52A2
- SLC52A3
- SLC6A8
- SLC9A1
- SLC9A6
- SMPD1
- SNAP25
- SNX14
- SOX10
- SPART
- SPAST
- SPG11
- SPG21
- SPG7
- SPR
- SPTAN1
- SPTBN2
- SQSTM1
- SRD5A3
- STUB1
- SUCLA2
- SUOX
- SURF1
- SVBP
- SYNE1
- SYT14
- TANGO2
- TBC1D20
- TDP1
- TDP2
- TECPR2
- TENM3
- TFG
- TGM6
- THG1L
- TMEM216
- TMEM231
- TMEM240
- TMEM67
- TMX2
- TRAK1
- TRAPPC12
- TRAPPC4
- TRIT1
- TRPC3
- TSEN2
- TSEN54
- TTBK2
- TTC19
- TTPA
- TUBA1A
- TUBB4A
- TUBG1
- TWNK
- UBA5
- UBAP1
- UBTF
- UCHL1
- UFC1
- UFM1
- UGP2
- USP8
- VAMP1
- VCP
- VLDLR
- VPS13B
- VPS13D
- VPS37A
- VRK1
- VWA3B
- WARS2
- WASHC5
- WDR45B
- WDR48
- WDR73
- WDR81
- WWOX
- XRCC1
- ZC4H2
- ZFR
- ZFYVE26
- ZFYVE27
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Ataxia Spasticity - UGent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AAAS 99.88 1 AARS1 99.99 1 ABCA2 100.00 1 ABCB7 99.58 1 ABCD1 99.98 1 ABHD12 99.98 1 ACO2 99.99 1 ADAR 99.84 1 ADGRG1 99.90 1 ADPRS 99.94 1 AFG3L2 99.97 1 AGTPBP1 99.68 1 AHI1 99.86 1 AIFM1 99.92 1 AIMP1 99.97 1 ALDH18A1 99.96 1 ALDH5A1 96.19 1 ALG6 93.37 1 ALS2 99.87 1 AMPD2 99.91 1 ANO10 99.93 1 AP4B1 96.92 1 AP4E1 99.94 1 AP4M1 99.98 1 AP4S1 87.89 1 AP5Z1 100.00 1 APOB 99.99 1 APTX 99.92 1 ARG1 99.95 1 ARL13B 99.53 1 ARL6IP1 99.51 1 ARSA 99.99 1 ARSI 100.00 1 ARX 95.36 1 ASPA 99.98 1 ATCAY 100.00 1 ATG5 99.81 1 ATL1 99.95 1 ATM 99.83 1 ATP13A2 99.96 1 ATP1A3 99.98 1 ATP2B3 99.98 1 ATP7B 100.00 1 ATP8A2 100.00 1 AUH 99.95 1 B4GALNT1 99.97 1 BCKDHA 99.97 1 BCKDHB 99.73 1 BCL11B 100.00 1 BCS1L 99.99 1 BICD2 99.99 1 BSCL2 99.99 1 BTD 100.00 1 C19ORF12 99.99 1 CA8 99.71 1 CACNA1A 98.16 1 CACNA1E 99.82 1 CACNA1G 99.95 1 CACNB4 99.20 1 CAMTA1 99.97 1 CAPN1 99.99 1 CC2D2A 99.95 1 CCDC88C 100.00 1 CCT5 99.99 1 CDK16 99.99 1 CEP290 98.10 1 CHP1 99.90 1 CLCN2 100.00 1 CNTNAP1 99.98 1 COA7 99.91 1 COQ2 99.90 1 COQ4 100.00 1 COQ8A 100.00 1 COQ9 99.62 1 COX10 99.99 1 COX15 100.00 1 COX20 99.67 1 CP 99.95 1 CPT1C 99.99 1 CSTB 100.00 1 CTBP1 99.98 1 CWF19L1 99.91 1 CYP27A1 100.00 1 CYP2U1 99.99 1 CYP7B1 99.82 1 DAB1 97.87 1 DARS1 98.85 1 DARS2 98.31 1 DBT 94.51 1 DDHD1 99.93 1 DDHD2 99.97 1 DDX3X 99.01 1 DEGS1 99.99 1 DLAT 99.65 1 DLD 99.89 1 DNAJC19 99.76 1 DNAJC3 99.92 1 DNAJC5 99.99 1 DNMT1 99.13 1 DOCK3 99.96 1 EARS2 99.96 1 EBF3 99.99 1 ECHS1 100.00 1 EEF2 99.95 1 EIF2AK1 99.90 1 ELOVL1 100.00 1 ELOVL4 99.91 1 ELOVL5 99.87 1 EMC1 99.85 1 ENTPD1 99.98 1 EPM2A 99.99 1 ERCC1 99.96 1 ERCC4 99.92 1 ERCC8 99.79 1 ERLIN1 99.98 1 ERLIN2 99.94 1 EXOSC3 100.00 1 FA2H 99.98 1 FARS2 100.00 1 FASTKD2 99.93 1 FAT2 99.99 1 FGF14 99.99 1 FITM2 99.99 1 FLRT1 100.00 1 FLVCR1 99.91 1 FOLR1 100.00 1 FRMD4A 100.00 1 FRMD7 99.97 1 GALC 99.92 1 GAN 99.98 1 GBA2 99.99 1 GBE1 99.73 1 GDAP2 95.02 1 GFAP 99.99 1 GFM2 99.87 1 GJC2 100.00 1 GLB1 100.00 1 GLRX5 100.00 1 GLS 99.78 1 GM2A 100.00 1 GOSR2 98.92 1 GPR143 99.60 1 GRID2 99.97 1 GRIN1 100.00 1 GRM1 100.00 1 GRN 100.00 1 GSX2 100.00 1 HACE1 99.76 1 HEXA 99.99 1 HEXB 99.91 1 HSD17B10 99.98 1 HSD17B4 99.71 1 HSPD1 83.42 1 IBA57 100.00 1 IFIH1 99.84 1 IFRD1 99.67 1 IFT140 100.00 1 INTS8 99.89 1 IRF2BPL 99.21 1 ISCA1 99.79 1 ITM2B 99.85 1 ITPR1 99.98 1 JAM2 91.82 1 KANK1 99.99 1 KCNA1 100.00 1 KCNA2 99.99 1 KCNA4 100.00 1 KCNC3 99.98 1 KCND3 99.98 1 KCNJ10 99.98 1 KCNJ6 100.00 1 KCNMA1 99.89 1 KCNQ2 100.00 1 KCTD7 99.98 1 KIDINS220 99.94 1 KIF1A 99.96 1 KIF1C 99.99 1 KIF5A 99.91 1 KLC2 100.00 1 L1CAM 99.98 1 L2HGDH 99.92 1 LAMA1 99.98 1 LAMB1 99.87 1 LIPT2 99.99 1 LYRM7 99.98 1 LYST 99.87 1 ERCC2 99.99 1 MAN2B1 99.99 1 MARS1 99.97 1 MARS2 100.00 1 MCOLN1 100.00 1 MECP2 99.95 1 MLC1 99.99 1 MMADHC 99.76 1 MME 97.17 1 MPV17 99.98 1 MRE11 99.93 1 MRPS34 100.00 1 MSTO1 76.34 1 MTCL1 100.00 1 MTPAP 99.97 1 MTRFR 99.87 1 MTTP 99.92 1 MYORG 99.99 1 NANS 100.00 1 NDUFA9 100.00 1 NDUFAF4 99.95 1 NDUFAF6 99.86 1 NDUFS1 99.79 1 NDUFS3 100.00 1 NDUFS7 99.99 1 NEFL 100.00 1 NEU1 99.98 1 NEXMIF 99.99 1 NF2 100.00 1 NHLRC1 100.00 1 NIPA1 99.91 1 NKX6-2 100.00 1 NOL3 100.00 1 NPC1 99.99 1 NPC2 100.00 1 NT5C2 99.96 1 NTNG2 99.98 1 NUP93 99.87 1 NUS1 99.90 1 OCLN 82.91 1 OFD1 99.68 1 MED12 99.95 1 OPA3 100.00 1 OPHN1 99.92 1 OTC 99.42 1 PARS2 99.99 1 PODXL 99.99 1 PCDH12 100.00 1 PCYT2 100.00 1 PDHA1 99.04 1 PDHX 99.64 1 PDYN 100.00 1 PEX10 100.00 1 PEX16 99.94 1 PEX7 99.72 1 PGAP1 99.56 1 PHYH 100.00 1 PIK3R5 99.99 1 PLA2G6 99.98 1 PLAA 99.79 1 PLD3 99.99 1 PLP1 99.98 1 PMM2 99.93 1 PMPCA 99.99 1 PMPCB 99.94 1 PNKP 100.00 1 PNPLA6 99.99 1 POLG 100.00 1 POLR3A 99.97 1 POLR3B 99.94 1 PRF1 100.00 1 PRKCG 99.99 1 PRNP 100.00 1 PRPS1 99.95 1 PRRT2 99.97 1 PSAP 99.94 1 PSEN1 100.00 1 PTPN23 100.00 1 PTRH2 99.99 1 PUM1 98.14 1 RAB11B 100.00 1 RAB18 99.76 1 RAB3GAP1 99.73 1 RAB3GAP2 99.69 1 REEP1 99.97 1 REEP2 99.99 1 RETREG1 99.99 1 RNASEH2A 99.95 1 RNASEH2B 99.94 1 RNASEH2C 99.99 1 RNF168 99.97 1 RNF170 99.90 1 RNF216 99.99 1 RORA 99.97 1 RPGRIP1L 96.35 1 RTN2 99.98 1 RTN4IP1 99.98 1 RUBCN 100.00 1 SACS 99.97 1 SAMD9L 99.95 1 SAMHD1 99.98 1 SARS1 98.53 1 SCN8A 99.77 1 SCYL1 100.00 1 SDHA 99.98 1 SDHAF1 99.99 1 SDHD 82.93 1 SEPSECS 99.78 1 SETX 99.97 1 SIL1 99.95 1 SLC13A5 99.99 1 SLC16A2 99.97 1 SLC17A5 99.71 1 SLC19A3 99.95 1 SLC1A3 99.98 1 SLC1A4 99.97 1 SLC25A15 100.00 1 SLC25A46 99.88 1 SLC2A1 99.93 1 SLC33A1 99.67 1 SLC44A1 99.90 1 SLC52A2 100.00 1 SLC52A3 99.94 1 SLC6A8 99.99 1 SLC9A1 99.96 1 SLC9A6 99.42 1 SMPD1 100.00 1 SNAP25 99.89 1 SNX14 99.73 1 SOX10 100.00 1 SPART 99.98 1 SPAST 99.77 1 SPG11 99.89 1 SPG21 99.97 1 SPG7 99.99 1 SPR 99.99 1 SPTAN1 99.96 1 SPTBN2 99.98 1 SQSTM1 100.00 1 SRD5A3 99.94 1 STUB1 99.99 1 SUCLA2 99.96 1 SUOX 100.00 1 SURF1 100.00 1 SVBP 99.04 1 SYNE1 99.95 1 SYT14 99.94 1 TANGO2 99.85 1 TBC1D20 100.00 1 TDP1 99.97 1 TDP2 99.97 1 TECPR2 99.96 1 TENM3 99.99 1 TFG 98.68 1 TGM6 99.99 1 THG1L 99.99 1 TMEM216 99.98 1 TMEM231 88.88 1 TMEM240 99.99 1 TMEM67 99.69 1 TMX2 99.99 1 ACD 99.99 1 TRAK1 99.98 1 TRAPPC12 99.96 1 TRAPPC4 100.00 1 TRIT1 99.25 1 TRPC3 99.97 1 TSEN2 99.98 1 TSEN54 100.00 1 TTBK2 99.93 1 TTC19 99.99 1 TTPA 99.88 1 TUBA1A 99.97 1 TUBB4A 100.00 1 TUBG1 99.95 1 TWNK 100.00 1 UBA5 99.95 1 UBAP1 99.51 1 UBTF 99.99 1 UCHL1 99.99 1 UFC1 99.35 1 UFM1 99.25 1 UGP2 99.85 1 USP8 99.67 1 VAMP1 100.00 1 VCP 99.99 1 VLDLR 99.99 1 VPS13B 99.90 1 VPS13D 99.96 1 VPS37A 99.96 1 VRK1 99.98 1 VWA3B 98.82 1 WARS2 97.72 1 WASHC5 99.98 1 WDR45B 100.00 1 WDR48 99.42 1 WDR73 99.92 1 WDR81 100.00 1 WWOX 100.00 1 XRCC1 99.96 1 ZC4H2 99.98 1 ZFR 99.94 1 ZFYVE26 100.00 1 ZFYVE27 99.99 1