- Genetic tests
- Ataxia (autosomic dominant and recessive / except expansion of triplets) (gene panel - 722 genes)
Ataxia (autosomic dominant and recessive / except expansion of triplets) (gene panel - 722 genes)
Full name: |
Ataxia (autosomic dominant and recessive / except expansion of triplets) (gene panel - 722 genes)
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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: | |
EQA: |
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Accreditation (ISO 15189): |
2021-03-25 / 2024-09-09
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Turnaround time (maximum): |
6 months
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Document(s): |
Demande-postnat_0723_V9_FR.pdf424.89 KB
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Created: |
22 Aug 2019 - 09:23
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Changed: |
19 Jan 2024 - 09:06
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URL: |
- AAAS
- ABCB7
- ABCD1
- ABHD12
- ABHD5
- ACADVL
- ACD
- ACO2
- ADGRG1
- AFG3L2
- AHI1
- ALAS2
- ALDH18A1
- ALDH5A1
- ALG6
- ALS2
- AMACR
- AMPD2
- AMT
- ANO10
- AP1S2
- APTX
- ARL13B
- ARL6
- ARSA
- ARX
- ASPA
- ATCAY
- ATG5
- ATL1
- ATM
- ATP1A3
- ATP2B2
- ATP2B3
- ATP7B
- ATP8A2
- ATXN1
- ATXN10
- ATXN2
- ATXN3
- ATXN7
- B9D1
- BBS1
- BBS10
- BBS12
- BBS2
- BBS4
- BBS5
- BBS7
- BBS9
- BEAN1
- BIVM
- BSCL2
- BTD
- C19ORF12
- CA8
- CACNA1A
- CACNA1G
- CACNB4
- CAMTA1
- CAPN1
- CASK
- CC2D2A
- CCDC88C
- CEP290
- CEP41
- CHMP1A
- CLCN2
- CLN5
- CLN6
- CLPP
- COA7
- COASY
- COG5
- COQ2
- COQ6
- COQ8A
- COQ9
- COX20
- CP
- CPLANE1
- CRAT
- CSTB
- CWF19L1
- CYP27A1
- CYP2U1
- CYP7B1
- DARS1
- DARS2
- DDB2
- DDHD2
- DLAT
- DMXL2
- DNAJC19
- DNAJC3
- DNAJC5
- DNMT1
- EBF3
- EEF2
- EIF2B1
- EIF2B2
- EIF2B3
- EIF2B4
- EIF2B5
- ELOVL4
- ELOVL5
- EPM2A
- ERCC2
- ERCC3
- ERCC4
- ERCC5
- ETFA
- ETFB
- ETFDH
- EXOSC3
- FA2H
- FARS2
- FBXL4
- FDXR
- FGF14
- FLVCR1
- FMR1
- FOLR1
- FRMD7
- FXN
- GALC
- GBA1
- GBA2
- GBE1
- GCDH
- GCLC
- GCSH
- GFAP
- GJC2
- GLB1
- GLDC
- GLRX5
- GM2A
- GOSR2
- GPAA1
- GPR143
- GRID2
- GRM1
- GSS
- HARS2
- HEPACAM
- HERC1
- HEXA
- HEXB
- HIBCH
- HPRT1
- HTRA1
- IFRD1
- IGDCC3
- INPP5E
- IRF2BPL
- ITM2B
- ITPR1
- KCNA1
- KCNC3
- KCND3
- KCNJ10
- KCNJ6
- KCNMA1
- KIF1A
- KIF1C
- KIF5A
- KIF5C
- KIF7
- L2HGDH
- LAMA1
- LAMB1
- LARS2
- LMNB1
- LRPPRC
- LYST
- MED12
- MFSD8
- MKKS
- MKS1
- MLC1
- MMACHC
- MME
- MRE11
- MSTO1
- MTFMT
- MTPAP
- MTRFR
- MTRR
- MTTP
- MVK
- NANS
- NDUFAF6
- NDUFS1
- NDUFS2
- NDUFS4
- NDUFS7
- NDUFS8
- NDUFV1
- NEFL
- NEU1
- NEXMIF
- NHLRC1
- NKX6-2
- NOL3
- NOP56
- NOTCH3
- NPC1
- NPC2
- NPHP1
- NUBPL
- OCLN
- OFD1
- OPA3
- OPHN1
- OTUD4
- PAX6
- PDGFRB
- PDHX
- PDSS1
- PDSS2
- PDYN
- PEX10
- PEX16
- PEX2
- PEX7
- PHYH
- PIK3R5
- PLA2G6
- PLEKHG4
- PLP1
- PMM2
- PMPCA
- PNKD
- PNKP
- PNPLA6
- POLG
- POLH
- POLR3A
- POLR3B
- PPP2R2B
- PRICKLE1
- PRKCG
- PRNP
- PRPS1
- PRRT2
- PTEN
- PUM1
- RAB18
- RAB3A
- RAB3GAP1
- RARS2
- RELN
- RNASEH2A
- RNASEH2C
- RNF170
- RNF216
- RPGRIP1L
- RRM2B
- RUBCN
- SACS
- SAMD9L
- SAMHD1
- SAR1B
- SCN8A
- SEC16A
- SEPSECS
- SERAC1
- SETX
- SIL1
- SKOR1
- SLC16A2
- SLC17A5
- SLC19A3
- SLC1A3
- SLC20A2
- SLC25A15
- SLC25A46
- SLC2A1
- SLC39A8
- SLC52A2
- SLC52A3
- SLC9A1
- SLC9A6
- SMPD1
- SNX14
- SPAST
- SPG11
- SPG7
- SPR
- SPTBN2
- SRD5A3
- STUB1
- SYNE1
- SYT14
- TANGO2
- TBC1D20
- TBCC
- TBP
- TCTN1
- TCTN2
- TCTN3
- TDP1
- TDP2
- TGM6
- TK2
- TMEM138
- TMEM216
- TMEM231
- TMEM237
- TMEM240
- TMEM67
- TRIM32
- TRPC3
- TSEN2
- TSEN34
- TSEN54
- TSFM
- TTBK2
- TTC19
- TTC8
- TTPA
- TUBB4A
- TUBG1
- TWNK
- TYMP
- UBA5
- VAMP1
- VLDLR
- VPS13A
- VPS13B
- VPS13D
- VRK1
- VWA3B
- WASHC5
- WDPCP
- WDR73
- WDR81
- WFS1
- WWOX
- XPA
- XPC
- XPR1
- XRCC1
- ZC4H2
- ZFYVE26
- ZNF423
- ZNF592
-
Ataxia (348 genes) - ULB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AAAS 100.00 0 No comment ABCB7 99.99 0 No comment ABCD1 97.56 0 No comment ABHD12 88.30 0 No comment ABHD5 99.85 0 No comment ACADVL 98.04 0 No comment ACO2 100.00 0 No comment COQ8A 99.92 0 No comment AFG3L2 94.80 0 No comment AHI1 100.00 0 No comment ALAS2 100.00 0 No comment ALDH18A1 100.00 0 No comment ALDH5A1 84.13 0 No comment ALG6 100.00 0 No comment ALS2 100.00 0 No comment AMACR 96.78 0 No comment AMPD2 99.90 0 No comment AMT 100.00 0 No comment ANO10 100.00 0 No comment AP1S2 100.00 0 No comment APTX 99.96 0 No comment ARL13B 99.98 0 No comment ARL6 100.00 0 No comment ARSA 100.00 0 No comment ARX 100.00 0 No comment ASPA 100.00 0 No comment ATCAY 100.00 0 No comment ATG5 100.00 0 No comment ATL1 99.89 0 No comment ATM 100.00 0 No comment ATP1A3 100.00 0 No comment ATP2B2 100.00 0 No comment ATP2B3 99.89 0 No comment ATP7B 100.00 0 No comment ATP8A2 99.91 0 No comment ATXN1 100.00 0 No comment ATXN10 98.19 0 No comment ATXN2 93.25 0 No comment ATXN3 99.47 0 No comment ATXN7 98.67 0 No comment B9D1 99.89 0 No comment BBS1 100.00 0 No comment BBS10 100.00 0 No comment BBS12 100.00 0 No comment BBS2 100.00 0 No comment BBS4 99.97 0 No comment BBS5 100.00 0 No comment BBS7 99.99 0 No comment BBS9 99.93 0 No comment BEAN1 100.00 0 No comment BIVM 100.00 0 No comment BSCL2 100.00 0 No comment BTD 100.00 0 No comment TWNK 100.00 0 No comment MTRFR 100.00 0 No comment C19ORF12 100.00 0 No comment CPLANE1 100.00 0 No comment CA8 100.00 0 No comment CACNA1A 99.53 0 No comment CACNA1G 99.97 0 No comment CACNB4 99.95 0 No comment CAMTA1 99.98 0 No comment CAPN1 99.97 0 No comment CASK 99.99 0 No comment CC2D2A 100.00 0 No comment CCDC88C 99.64 0 No comment CEP290 100.00 0 No comment CEP41 100.00 0 No comment CHMP1A 100.00 0 No comment CLCN2 100.00 0 No comment CLN5 98.80 0 No comment CLN6 90.40 0 No comment CLPP 97.95 0 No comment COA7 100.00 0 No comment COASY 100.00 0 No comment COG5 99.95 0 No comment COQ2 99.66 0 No comment COQ6 100.00 0 No comment COQ9 100.00 0 No comment COX20 95.39 0 No comment CP 100.00 0 No comment CRAT 99.29 0 No comment CSTB 98.75 0 No comment CWF19L1 100.00 0 No comment CYP27A1 99.38 0 No comment CYP2U1 93.20 0 No comment CYP7B1 95.41 0 No comment DARS1 100.00 0 No comment DARS2 100.00 0 No comment DDB2 100.00 0 No comment DDHD2 100.00 0 No comment DLAT 100.00 0 No comment DMXL2 100.00 0 No comment DNAJC19 99.65 0 No comment DNAJC3 99.99 0 No comment DNAJC5 100.00 0 No comment DNMT1 99.54 0 No comment EBF3 99.94 0 No comment EEF2 100.00 0 No comment EIF2B1 100.00 0 No comment EIF2B2 99.61 0 No comment EIF2B3 98.87 0 No comment EIF2B4 100.00 0 No comment EIF2B5 100.00 0 No comment ELOVL4 100.00 0 No comment ELOVL5 100.00 0 No comment EPM2A 97.21 0 No comment ERCC2 99.22 0 No comment ERCC3 100.00 0 No comment ERCC4 99.99 0 No comment ERCC5 100.00 0 No comment ETFA 100.00 0 No comment ETFB 100.00 0 No comment ETFDH 100.00 0 No comment EXOSC3 100.00 0 No comment FA2H 95.71 0 No comment FARS2 100.00 0 No comment FBXL4 100.00 0 No comment FDXR 100.00 0 No comment FGF14 100.00 0 No comment FLVCR1 100.00 0 No comment FMR1 99.99 0 No comment FOLR1 100.00 0 No comment FRMD7 99.98 0 No comment FXN 100.00 0 No comment GALC 98.98 0 No comment GBA1 100.00 0 No comment GBA2 100.00 0 No comment GBE1 100.00 0 No comment GCDH 100.00 0 No comment GCLC 99.98 0 No comment GCSH 73.97 0 No comment GFAP 100.00 0 No comment GJC2 96.72 0 No comment GLB1 100.00 0 No comment GLDC 97.39 0 No comment GLRX5 100.00 0 No comment GM2A 100.00 0 No comment GOSR2 100.00 0 No comment GPAA1 95.08 0 No comment GPR143 89.09 0 No comment ADGRG1 99.99 0 No comment GRID2 100.00 0 No comment GRM1 99.99 0 No comment GSS 100.00 0 No comment HARS2 100.00 0 No comment HEPACAM 99.85 0 No comment HERC1 100.00 0 No comment HEXA 100.00 0 No comment HEXB 99.19 0 No comment HIBCH 100.00 0 No comment HPRT1 92.71 0 No comment HTRA1 75.65 0 No comment IFRD1 98.86 0 No comment IGDCC3 95.07 0 No comment INPP5E 99.14 0 No comment IRF2BPL 97.56 0 No comment ITM2B 100.00 0 No comment ITPR1 99.99 0 No comment KCNA1 100.00 0 No comment KCNC3 76.20 0 No comment KCND3 100.00 0 No comment KCNJ10 100.00 0 No comment KCNJ6 100.00 0 No comment KCNMA1 99.93 0 No comment WASHC5 100.00 0 No comment RUBCN 96.60 0 No comment NEXMIF 100.00 0 No comment KIF1A 98.74 0 No comment KIF1C 100.00 0 No comment KIF5A 100.00 0 No comment KIF5C 100.00 0 No comment KIF7 99.64 0 No comment L2HGDH 99.75 0 No comment LAMA1 99.79 0 No comment LAMB1 100.00 0 No comment LARS2 100.00 0 No comment LMNB1 97.00 0 No comment LRPPRC 98.80 0 No comment LYST 100.00 0 No comment MFSD8 100.00 0 No comment MKKS 100.00 0 No comment MKS1 100.00 0 No comment MLC1 98.57 0 No comment MMACHC 100.00 0 No comment MME 100.00 0 No comment MRE11 99.05 0 No comment MSTO1 99.96 0 No comment MTFMT 97.83 0 No comment MTPAP 99.98 0 No comment MTRR 100.00 0 No comment MTTP 100.00 0 No comment MVK 100.00 0 No comment NANS 100.00 0 No comment NDUFAF6 95.61 0 No comment NDUFS1 100.00 0 No comment NDUFS2 100.00 0 No comment NDUFS4 99.96 0 No comment NDUFS7 93.34 0 No comment NDUFS8 100.00 0 No comment NDUFV1 99.62 0 No comment NEFL 99.62 0 No comment NEU1 100.00 0 No comment NHLRC1 96.01 0 No comment NKX6-2 94.10 0 No comment NOL3 100.00 0 No comment NOP56 99.99 0 No comment NOTCH3 93.46 0 No comment NPC1 97.50 0 No comment NPC2 100.00 0 No comment NPHP1 100.00 0 No comment NUBPL 99.92 0 No comment OCLN 100.00 0 No comment OFD1 97.13 0 No comment MED12 99.98 0 No comment OPA3 100.00 0 No comment OPHN1 99.94 0 No comment OTUD4 100.00 0 No comment PAX6 100.00 0 No comment PDGFRB 99.98 0 No comment PDHX 100.00 0 No comment PDSS1 85.11 0 No comment PDSS2 100.00 0 No comment PDYN 100.00 0 No comment PEX10 87.10 0 No comment PEX16 99.97 0 No comment PEX2 100.00 0 No comment PEX7 95.60 0 No comment PHYH 99.81 0 No comment PIK3R5 100.00 0 No comment PLA2G6 100.00 0 No comment PLEKHG4 100.00 0 No comment PLP1 100.00 0 No comment PMM2 100.00 0 No comment PMPCA 100.00 0 No comment PNKD 99.93 0 No comment PNKP 99.84 0 No comment PNPLA6 99.95 0 No comment POLG 100.00 0 No comment POLH 100.00 0 No comment POLR3A 100.00 0 No comment POLR3B 100.00 0 No comment PPP2R2B 100.00 0 No comment PRICKLE1 100.00 0 No comment PRKCG 100.00 0 No comment PRNP 99.92 0 No comment PRPS1 99.91 0 No comment PRRT2 100.00 0 No comment PTEN 99.45 0 No comment PUM1 100.00 0 No comment RAB18 99.99 0 No comment RAB3A 100.00 0 No comment RAB3GAP1 100.00 0 No comment RARS2 100.00 0 No comment RELN 100.00 0 No comment RNASEH2A 100.00 0 No comment RNASEH2C 100.00 0 No comment RNF170 100.00 0 No comment RNF216 100.00 0 No comment RPGRIP1L 96.40 0 No comment RRM2B 100.00 0 No comment SACS 99.95 0 No comment SAMD9L 100.00 0 No comment SAMHD1 100.00 0 No comment SAR1B 100.00 0 No comment SCN8A 100.00 0 No comment SEC16A 99.98 0 No comment SEPSECS 99.57 0 No comment SERAC1 100.00 0 No comment SETX 100.00 0 No comment SIL1 99.95 0 No comment SKOR1 98.57 0 No comment SLC16A2 99.97 0 No comment SLC17A5 100.00 0 No comment SLC19A3 99.90 0 No comment SLC1A3 100.00 0 No comment SLC20A2 100.00 0 No comment SLC25A15 100.00 0 No comment SLC25A46 100.00 0 No comment SLC2A1 100.00 0 No comment SLC39A8 98.92 0 No comment SLC52A2 100.00 0 No comment SLC52A3 99.86 0 No comment SLC9A1 100.00 0 No comment SLC9A6 99.66 0 No comment SMPD1 100.00 0 No comment SNX14 99.98 0 No comment SPAST 99.83 0 No comment SPG11 100.00 0 No comment SPG7 95.78 0 No comment SPR 99.98 0 No comment SPTBN2 99.93 0 No comment SRD5A3 98.61 0 No comment STUB1 99.69 0 No comment SYNE1 100.00 0 No comment SYT14 92.28 0 No comment TANGO2 99.94 0 No comment TBC1D20 95.06 0 No comment TBCC 100.00 0 No comment TBP 100.00 0 No comment TCTN1 100.00 0 No comment TCTN2 100.00 0 No comment TCTN3 100.00 0 No comment TDP1 100.00 0 No comment TDP2 100.00 0 No comment TGM6 100.00 0 No comment TK2 100.00 0 No comment TMEM138 100.00 0 No comment TMEM216 99.87 0 No comment TMEM231 100.00 0 No comment TMEM237 99.85 0 No comment TMEM240 96.75 0 No comment TMEM67 99.95 0 No comment ACD 99.99 0 No comment TRIM32 100.00 0 No comment TRPC3 99.48 0 No comment TSEN2 100.00 0 No comment TSEN34 100.00 0 No comment TSEN54 91.60 0 No comment TSFM 100.00 0 No comment TTBK2 100.00 0 No comment TTC19 100.00 0 No comment TTC8 99.73 0 No comment TTPA 96.80 0 No comment TUBB4A 100.00 0 No comment TUBG1 100.00 0 No comment TYMP 100.00 0 No comment UBA5 100.00 0 No comment VAMP1 100.00 0 No comment VLDLR 96.00 0 No comment VPS13A 100.00 0 No comment VPS13B 100.00 0 No comment VPS13D 100.00 0 No comment VRK1 100.00 0 No comment VWA3B 100.00 0 No comment WDPCP 99.11 0 No comment WDR73 100.00 0 No comment WDR81 99.63 0 No comment WFS1 100.00 0 No comment WWOX 100.00 0 No comment XPA 98.10 0 No comment XPC 100.00 0 No comment XPR1 99.91 0 No comment XRCC1 99.95 0 No comment ZC4H2 100.00 0 No comment ZFYVE26 100.00 0 No comment ZNF423 100.00 0 No comment ZNF592 100.00 0 No comment