- Genetic tests
- Leukodystrophy (gene panel)
Leukodystrophy (gene panel)
Full name: |
Leukodystrophy (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: |
30 Jul 2019 - 13:33
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Changed: |
16 Dec 2022 - 11:27
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- AARS2
- ABAT
- ABCD1
- ACBD5
- ACD
- ACER3
- ACOX1
- ACP5
- ACTL6B
- ADAR
- ADGRG1
- ADSL
- AGA
- AIFM1
- AIMP1
- AIMP2
- ALDH3A2
- ALDH5A1
- APP
- ARSA
- ASAH1
- ASPA
- ATAD3A
- ATP7A
- ATP7B
- AUH
- B3GALNT2
- BCAP31
- BCS1L
- BOLA3
- BTD
- CBS
- CFH
- CIC
- CLCN2
- CLN3
- CLN5
- CLN6
- CLN8
- CNP
- CNTNAP1
- COA8
- COL4A1
- COL4A2
- COX10
- COX15
- CSF1R
- CTC1
- CTSA
- CTSD
- CTSF
- CYP21A2
- CYP27A1
- DAG1
- DARS1
- DARS2
- DCAF17
- DDHD2
- DEGS1
- DGUOK
- DLAT
- DLD
- DMXL2
- DNAJC5
- EARS2
- ECHS1
- EIF2AK1
- EIF2AK2
- EIF2B1
- EIF2B2
- EIF2B3
- EIF2B4
- EIF2B5
- EPRS1
- ERCC2
- ERCC3
- ERCC6
- ERCC8
- FA2H
- FAR1
- FARS2
- FASTKD2
- FBXL4
- FDX2
- FIG4
- FKTN
- FLVCR2
- FOLR1
- FUCA1
- GALC
- GALT
- GAN
- GBE1
- GFAP
- GFM1
- GFM2
- GJA1
- GJB1
- GJC2
- GLA
- GLB1
- GM2A
- GNAS
- GPHN
- GRN
- GTF2H5
- HEPACAM
- HEXA
- HEXB
- HIKESHI
- HLCS
- HMGCL
- HSD17B4
- HSPD1
- HTRA1
- HYCC1
- IBA57
- IFIH1
- IKBKG
- ISCA2
- IVD
- JAM3
- KARS1
- L2HGDH
- LAMA2
- LARGE1
- LARS2
- LIPT1
- LIPT2
- LMNB1
- LYRM7
- MAN2B1
- MANBA
- MARS2
- MCOLN1
- MFSD8
- MLC1
- MMUT
- MOCS1
- MOCS2
- MPLKIP
- MPV17
- MRPS34
- MTFMT
- MTHFR
- MTO1
- NAXD
- NAXE
- NDUFA2
- NDUFA9
- NDUFAF1
- NDUFAF3
- NDUFAF4
- NDUFAF6
- NDUFS1
- NDUFS2
- NDUFS4
- NDUFS7
- NDUFS8
- NDUFV1
- NEU1
- NKX6-2
- NOTCH3
- NPC1
- NPC2
- NTNG2
- NUBPL
- OCLN
- OCRL
- PAH
- PARS2
- PCCA
- PCCB
- PDGFB
- PDGFRB
- PDHA1
- PDHB
- PDHX
- PDP1
- PEX1
- PEX10
- PEX11B
- PEX12
- PEX13
- PEX14
- PEX16
- PEX19
- PEX2
- PEX26
- PEX3
- PEX5
- PEX6
- PEX7
- PLEKHG2
- PLP1
- PLPBP
- PMPCB
- PNPT1
- POLG
- POLR1C
- POLR3A
- POLR3B
- POLR3K
- POMGNT1
- POMT1
- POMT2
- PPT1
- PRF1
- PSAP
- PSAT1
- PSPH
- PYCR2
- QDPR
- RARS1
- RNASEH2A
- RNASEH2B
- RNASEH2C
- RNASET2
- SAMHD1
- SCP2
- SDHA
- SDHAF1
- SDHAF2
- SDHB
- SDHD
- SEPSECS
- SGO1
- SHANK3
- SLC13A3
- SLC16A2
- SLC17A5
- SLC20A2
- SLC25A12
- SLC44A1
- SLC7A2
- SNAP29
- SNORD118
- SOX10
- SPG11
- STN1
- STX11
- STXBP2
- SUCLA2
- SUMF1
- SUOX
- SURF1
- TACO1
- TMEM106B
- TMEM63A
- TREM2
- TREX1
- TSEN54
- TTR
- TUBB4A
- TWNK
- TYMP
- TYROBP
- UBTF
- UFM1
- UNC13D
- VPS11
- WARS2
- WT1
- XPR1
- ZFYVE26
-
Leukodystrophy - UGent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AARS2 99.98 1 ABAT 99.98 1 ABCD1 99.98 1 ACBD5 99.97 1 ACER3 99.76 1 ACOX1 99.98 1 ACP5 100.00 1 ACTL6B 99.90 1 ADAR 99.84 1 ADGRG1 99.90 1 ADSL 99.93 1 AGA 99.92 1 AIFM1 99.92 1 AIMP1 99.97 1 AIMP2 99.99 1 ALDH3A2 99.95 1 ALDH5A1 96.19 1 APP 99.92 1 ARSA 99.99 1 ASAH1 99.90 1 ASPA 99.98 1 ATAD3A 99.62 1 ATP7A 99.87 1 ATP7B 100.00 1 AUH 99.95 1 B3GALNT2 92.79 1 BCAP31 99.95 1 BCS1L 99.99 1 BOLA3 99.22 1 BTD 100.00 1 CBS 17.79 1 CIC 98.32 1 CLCN2 100.00 1 CLN3 99.92 1 CLN5 100.00 1 CLN6 100.00 1 CLN8 100.00 1 CNP 99.98 1 CNTNAP1 99.98 1 COA8 99.94 1 COL4A1 99.99 1 COL4A2 99.98 1 COX10 99.99 1 COX15 100.00 1 CYP21A2 99.91 1 CSF1R 99.92 1 CTC1 100.00 1 CTSA 99.98 1 CTSD 100.00 1 CTSF 99.96 1 CYP27A1 100.00 1 DAG1 100.00 1 DARS1 98.85 1 DARS2 98.31 1 DCAF17 99.84 1 DDHD2 99.97 1 DEGS1 99.99 1 DGUOK 99.93 1 DLAT 99.65 1 DLD 99.89 1 DMXL2 99.86 1 DNAJC5 99.99 1 EARS2 99.96 1 ECHS1 100.00 1 EIF2AK1 99.90 1 EIF2AK2 99.70 1 EIF2B1 99.98 1 EIF2B2 99.90 1 EIF2B3 97.26 1 EIF2B4 99.96 1 EIF2B5 99.98 1 EPRS1 99.53 1 ERCC2 99.98 1 ERCC3 99.90 1 ERCC6 99.60 1 ERCC8 99.79 1 FA2H 99.98 1 HYCC1 99.81 1 FAR1 99.82 1 FARS2 100.00 1 FASTKD2 99.93 1 FBXL4 100.00 1 FDX2 99.99 1 CFH 99.97 1 FIG4 99.83 1 FKTN 99.94 1 FLVCR2 100.00 1 FOLR1 100.00 1 FUCA1 98.72 1 GALC 99.92 1 GALT 100.00 1 GAN 99.98 1 GBE1 99.73 1 GFAP 99.99 1 GFM1 99.95 1 GFM2 99.87 1 GJA1 100.00 1 GJB1 100.00 1 GJC2 100.00 1 GLA 99.90 1 GLB1 100.00 1 GM2A 100.00 1 GNAS 100.00 1 GPHN 99.94 1 GRN 100.00 1 GTF2H5 100.00 1 HEPACAM 100.00 1 HEXA 99.99 1 HEXB 99.91 1 HIKESHI 99.78 1 HLCS 99.97 1 HMGCL 99.31 1 HSD17B4 99.71 1 HSPD1 83.42 1 HTRA1 100.00 1 IBA57 100.00 1 IFIH1 99.84 1 IKBKG 57.34 1 ISCA2 100.00 1 IVD 100.00 1 JAM3 100.00 1 KARS1 99.98 1 L2HGDH 99.92 1 LAMA2 99.95 1 LARGE1 100.00 1 LARS2 99.96 1 LIPT1 99.89 1 LIPT2 99.99 1 LMNB1 99.73 1 LYRM7 99.98 1 MAN2B1 99.99 1 MANBA 99.81 1 MARS2 100.00 1 MCOLN1 100.00 1 MFSD8 99.70 1 MLC1 99.99 1 MMUT 99.68 1 MOCS1 99.95 1 MOCS2 99.96 1 MPLKIP 99.99 1 MPV17 99.98 1 MRPS34 100.00 1 MTFMT 99.98 1 MTHFR 99.97 1 MTO1 90.25 1 NAXD 99.99 1 NAXE 99.99 1 NDUFA2 99.95 1 NDUFA9 100.00 1 NDUFAF1 100.00 1 NDUFAF3 100.00 1 NDUFAF4 99.95 1 NDUFAF6 99.86 1 NDUFS1 99.79 1 NDUFS2 99.66 1 NDUFS4 99.99 1 NDUFS7 99.99 1 NDUFS8 100.00 1 NDUFV1 99.99 1 NEU1 99.98 1 NKX6-2 100.00 1 NOTCH3 99.99 1 NPC1 99.99 1 NPC2 100.00 1 NTNG2 99.98 1 NUBPL 99.62 1 OCLN 82.91 1 OCRL 99.89 1 PAH 99.96 1 PARS2 99.99 1 PCCA 99.90 1 PCCB 99.97 1 PDGFB 99.99 1 PDGFRB 99.99 1 PDHA1 99.04 1 PDHB 99.94 1 PDHX 99.64 1 PDP1 100.00 1 PEX1 98.80 1 PEX10 100.00 1 PEX11B 99.62 1 PEX12 100.00 1 PEX13 99.36 1 PEX14 100.00 1 PEX16 99.94 1 PEX19 99.25 1 PEX2 100.00 1 PEX26 100.00 1 PEX3 99.85 1 PEX5 99.89 1 PEX6 99.99 1 PEX7 99.72 1 PLEKHG2 99.99 1 PLP1 99.98 1 PLPBP 99.99 1 PMPCB 99.94 1 PNPT1 99.56 1 POLG 100.00 1 POLR1C 100.00 1 POLR3A 99.97 1 POLR3B 99.94 1 POLR3K 100.00 1 POMGNT1 99.69 1 POMT1 99.96 1 POMT2 99.98 1 PPT1 97.48 1 PRF1 100.00 1 PSAP 99.94 1 PSAT1 99.98 1 PSPH 99.09 1 PYCR2 99.95 1 QDPR 99.92 1 RARS1 99.76 1 RNASEH2A 99.95 1 RNASEH2B 99.94 1 RNASEH2C 99.99 1 RNASET2 99.99 1 SAMHD1 99.98 1 SCP2 94.94 1 SDHA 99.98 1 SDHAF1 99.99 1 SDHAF2 99.96 1 SDHB 97.32 1 SDHD 82.93 1 SEPSECS 99.78 1 SGO1 99.90 1 SHANK3 98.45 1 SLC13A3 99.98 1 SLC16A2 99.97 1 SLC17A5 99.71 1 SLC20A2 99.95 1 SLC25A12 99.72 1 SLC44A1 99.90 1 SLC7A2 99.97 1 SNAP29 99.85 1 SNORD118 100.00 1 SOX10 100.00 1 SPG11 99.89 1 STN1 99.88 1 STX11 100.00 1 STXBP2 100.00 1 SUCLA2 99.96 1 SUMF1 99.95 1 SUOX 100.00 1 SURF1 100.00 1 TACO1 100.00 1 TMEM106B 99.92 1 TMEM63A 99.91 1 ACD 99.99 1 TREM2 100.00 1 TREX1 100.00 1 TSEN54 100.00 1 TTR 100.00 1 TUBB4A 100.00 1 TWNK 100.00 1 TYMP 99.87 1 TYROBP 99.95 1 UBTF 99.99 1 UFM1 99.25 1 UNC13D 100.00 1 VPS11 99.99 1 WARS2 97.72 1 WT1 99.99 1 XPR1 99.13 1 ZFYVE26 100.00 1