- Genetic tests
- Malformations of cortical development (235 genes)
Malformations of cortical development (235 genes)
Full name: |
Malformations of cortical development (235 genes)
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Test type: |
Clinical
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Test specialty: |
Molecular Genetics
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Test purpose: |
Carrier diagnosis,
Mutation confirmation,
Post-natal Diagnosis,
Pre-implantation genetic diagnosis,
Prenatal diagnosis
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Specimen: |
Peripheral (whole) blood on EDTA,
Amniotic fluid,
Chorionic villi,
Cell culture
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Method category: | |
Method technique: | |
Laboratory: | |
RIZIV code: | |
EQA: |
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Accreditation (ISO 15189): |
2021-10-07 / 2026-06-14
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Turnaround time (maximum): |
6 months (2 months for prenatal testing)
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Document(s): | |
Created: |
26 Aug 2019 - 12:45
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Changed: |
09 Mar 2023 - 16:05
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URL: |
- Bilateral perisylvian polymicrogyria
- Cobblestone lissencephaly without muscular or ocular involvement
- Lissencephaly due to LIS1 mutation
- Lissencephaly due to TUBA1A mutation
- Lissencephaly syndrome, Norman-Roberts type
- Lissencephaly type 1 due to doublecortin gene mutation
- Microlissencephaly
- Polymicrogyria due to TUBB2B mutation
- Subcortical band heterotopia
- X-linked lissencephaly with abnormal genitalia
- ACTB
- ACTG1
- ADGRG1
- AFG2A
- AGBL2
- AHI1
- AKT1
- AKT3
- ANTXR1
- AP1S2
- AP4E1
- AP4M1
- AP4S1
- ARFGEF2
- ARHGAP31
- ARID1B
- ARL13B
- ARX
- ASNS
- ASPM
- ASXL1
- ATP6V0A2
- B3GALNT2
- B3GNT2
- B4GAT1
- BICD2
- C2CD3
- CACNA1E
- CASK
- CCND2
- CDK5
- CDK5RAP2
- CDK6
- CDON
- CENPE
- CENPJ
- CEP135
- CEP152
- CEP55
- CHD7
- CHD8
- CIT
- CKAP2L
- CNOT1
- CNTNAP2
- COL18A1
- COL3A1
- COL4A1
- COL4A2
- CRADD
- CRPPA
- CSPP1
- CUL4B
- DAB1
- DAG1
- DCHS1
- DCLK2
- DCX
- DDX3X
- DEPDC5
- DHCR7
- DISP1
- DKC1
- DOCK6
- DYNC1H1
- EIF2AK3
- EIF2S3
- EMG1
- EML1
- EMX2
- EOMES
- EPG5
- ERCC1
- ERCC2
- ERCC5
- ERCC6
- ERMARD
- EZH2
- FAT4
- FGF8
- FH
- FIG4
- FKRP
- FKTN
- FLNA
- FOXC1
- FOXG1
- FOXH1
- FUBP1
- GAS1
- GLI2
- GMPPB
- GNAQ
- GPC3
- GPSM2
- GRIN1
- GRIN2B
- HEPACAM
- HERC1
- HNRNPU
- HSD17B4
- HYLS1
- IER3IP1
- INTS8
- JAM3
- KAT6A
- KAT6B
- KATNB1
- KDM5C
- KIF11
- KIF21B
- KIF2A
- KIF5C
- KIF7
- KIFBP
- KNL1
- L1CAM
- LAMA1
- LAMA2
- LAMB1
- LAMC3
- LARGE1
- MACF1
- MAN2C1
- MAP1B
- MAPK8IP3
- MCPH1
- MECP2
- MED12
- MED17
- MEF2C
- MFSD2A
- MID1
- MPDZ
- MTOR
- MYCN
- MYH10
- NBN
- NDE1
- NEDD4L
- NFIB
- NHEJ1
- NIPBL
- NODAL
- NPRL2
- NPRL3
- NR2F1
- NSD1
- NSDHL
- OCLN
- OFD1
- PAFAH1B1
- PAX6
- PCNT
- PEX1
- PI4KA
- PIGA
- PIK3CA
- PIK3R2
- PITX2
- PLK4
- PNKP
- POMGNT1
- POMGNT2
- POMK
- POMT1
- POMT2
- PRRX1
- PSAT1
- PTCH1
- PTEN
- PYCR2
- QARS1
- RAB18
- RAB3GAP1
- RAB3GAP2
- RELN
- RNASEH2A
- RNASEH2B
- RNASEH2C
- RNASET2
- RNU4ATAC
- RTTN
- RXYLT1
- SAMHD1
- SCN3A
- SETD5
- SF3B4
- SHH
- SIN3A
- SIX3
- SLC25A19
- SLC35A2
- SLC9A6
- SMPD4
- SNAP29
- SOX9
- SRD5A3
- SRPX2
- STAMBP
- STIL
- STRADA
- TBC1D20
- TBC1D24
- TBC1D7
- TCF4
- TCTN1
- TGIF1
- TMEM216
- TMEM67
- TMX2
- TREX1
- TSC1
- TSC2
- TSEN54
- TUBA1A
- TUBA8
- TUBB
- TUBB2A
- TUBB2B
- TUBB3
- TUBB4A
- TUBG1
- TUBGCP4
- TUBGCP6
- UBE3A
- VLDLR
- VPS13B
- WDR62
- WDR73
- YWHAE
- ZEB2
- ZIC2
- ZNF335
- ZSWIM6
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Malformations of cortical development (235 genes) - VUB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ACTB 100.00 0 No comment ACTG1 100.00 0 No comment ADGRG1 100.00 0 No comment AGBL2 96.33 0 No comment AHI1 100.00 0 No comment AKT1 100.00 0 No comment AKT3 100.00 0 No comment AP1S2 100.00 0 No comment AP4E1 100.00 0 No comment AP4M1 100.00 0 No comment AP4S1 87.40 0 No comment ARFGEF2 100.00 0 No comment ARHGAP31 100.00 0 No comment ARID1B 92.99 0 No comment ARL13B 100.00 0 No comment ARX 78.98 0 No comment ASNS 100.00 0 No comment ASPM 100.00 0 No comment ASXL1 99.91 0 No comment ATP6V0A2 100.00 0 No comment ANTXR1 100.00 0 No comment B3GALNT2 85.88 0 No comment B3GNT2 100.00 0 No comment B4GAT1 100.00 0 No comment BICD2 100.00 0 No comment C2CD3 100.00 0 No comment CACNA1E 100.00 0 No comment CASK 100.00 0 No comment CCND2 100.00 0 No comment CDK5 100.00 0 No comment CDK5RAP2 100.00 0 No comment CDK6 100.00 0 No comment CDON 100.00 0 No comment CENPE 100.00 0 No comment CENPJ 100.00 0 No comment CEP135 100.00 0 No comment CEP152 100.00 0 No comment CEP55 100.00 0 No comment CHD7 100.00 0 No comment CHD8 100.00 0 No comment CIT 100.00 0 No comment CKAP2L 100.00 0 No comment CNOT1 100.00 0 No comment CNTNAP2 99.85 0 No comment COL18A1 97.80 0 No comment COL3A1 100.00 0 No comment COL4A1 98.71 0 No comment COL4A2 100.00 0 No comment CRADD 100.00 0 No comment CRPPA 95.75 0 No comment CSPP1 100.00 0 No comment CUL4B 100.00 0 No comment DAB1 100.00 0 No comment DAG1 100.00 0 No comment DCHS1 99.64 0 No comment DCLK2 100.00 0 No comment DCX 100.00 0 No comment DDX3X 100.00 0 No comment DEPDC5 99.62 0 No comment DHCR7 100.00 0 No comment DISP1 100.00 0 No comment DKC1 100.00 0 No comment DOCK6 99.12 0 No comment DYNC1H1 100.00 0 No comment EIF2AK3 95.52 0 No comment EIF2S3 100.00 0 No comment EMG1 100.00 0 No comment EML1 97.08 0 No comment EMX2 100.00 0 No comment EOMES 98.56 0 No comment EPG5 100.00 0 No comment ERCC1 100.00 0 No comment ERCC2 100.00 0 No comment ERCC5 100.00 0 No comment ERCC6 100.00 0 No comment ERMARD 100.00 0 No comment EZH2 100.00 0 No comment FAT4 100.00 0 No comment FGF8 94.82 0 No comment FH 100.00 0 No comment FIG4 100.00 0 No comment FKRP 98.68 0 No comment FKTN 100.00 0 No comment FLNA 100.00 0 No comment FOXC1 62.57 0 No comment FOXG1 85.88 0 No comment FOXH1 100.00 0 No comment FUBP1 100.00 0 No comment GAS1 62.99 0 No comment GLI2 95.11 0 No comment GMPPB 100.00 0 No comment GNAQ 100.00 0 No comment GPC3 100.00 0 No comment GPSM2 100.00 0 No comment GRIN1 99.97 0 No comment GRIN2B 100.00 0 No comment HEPACAM 96.82 0 No comment HERC1 100.00 0 No comment HNRNPU 99.54 0 No comment HSD17B4 100.00 0 No comment HYLS1 100.00 0 No comment IER3IP1 99.93 0 No comment INTS8 100.00 0 No comment JAM3 100.00 0 No comment KAT6A 100.00 0 No comment KAT6B 100.00 0 No comment KATNB1 100.00 0 No comment KDM5C 100.00 0 No comment KIF11 100.00 0 No comment KIFBP 100.00 0 No comment KIF21B 100.00 0 No comment KIF2A 98.88 0 No comment KIF5C 100.00 0 No comment KIF7 96.94 0 No comment KNL1 98.62 0 No comment L1CAM 100.00 0 No comment LAMA1 99.93 0 No comment LAMA2 100.00 0 No comment LAMB1 100.00 0 No comment LAMC3 97.51 0 No comment LARGE1 100.00 0 No comment MACF1 100.00 0 No comment MAN2C1 100.00 0 No comment MAP1B 100.00 0 No comment MAPK8IP3 99.25 0 No comment MCPH1 100.00 0 No comment MECP2 98.28 0 No comment MED12 99.96 0 No comment MED17 100.00 0 No comment MEF2C 100.00 0 No comment MFSD2A 100.00 0 No comment MID1 100.00 0 No comment MPDZ 100.00 0 No comment MTOR 100.00 0 No comment MYCN 86.70 0 No comment MYH10 100.00 0 No comment NBN 100.00 0 No comment NDE1 100.00 0 No comment NEDD4L 100.00 0 No comment NFIB 100.00 0 No comment NHEJ1 100.00 0 No comment NIPBL 99.98 0 No comment NODAL 99.99 0 No comment NPRL2 100.00 0 No comment NPRL3 100.00 0 No comment NR2F1 92.00 0 No comment NSD1 100.00 0 No comment NSDHL 100.00 0 No comment OCLN 100.00 0 No comment OFD1 99.88 0 No comment PAFAH1B1 100.00 0 No comment PAX6 100.00 0 No comment PCNT 100.00 0 No comment PEX1 100.00 0 No comment PI4KA 99.44 0 No comment PIGA 100.00 0 No comment PIK3CA 100.00 0 No comment PIK3R2 89.19 0 No comment PITX2 100.00 0 No comment PLK4 100.00 0 No comment PNKP 100.00 0 No comment POMGNT1 100.00 0 No comment POMGNT2 100.00 0 No comment POMK 100.00 0 No comment POMT1 100.00 0 No comment POMT2 99.90 0 No comment PRRX1 100.00 0 No comment PSAT1 100.00 0 No comment PTCH1 98.48 0 No comment PTEN 98.86 0 No comment PYCR2 100.00 0 No comment QARS1 100.00 0 No comment RAB18 100.00 0 No comment RAB3GAP1 100.00 0 No comment RAB3GAP2 100.00 0 No comment RELN 99.96 0 No comment RNASEH2A 100.00 0 No comment RNASEH2B 95.67 0 No comment RNASEH2C 100.00 0 No comment RNASET2 99.98 0 No comment RNU4ATAC 100.00 0 No comment RTTN 100.00 0 No comment RXYLT1 99.84 0 No comment SAMHD1 100.00 0 No comment SCN3A 100.00 0 No comment SETD5 100.00 0 No comment SF3B4 100.00 0 No comment SHH 92.83 0 No comment SIN3A 99.82 0 No comment SIX3 99.59 0 No comment SLC25A19 100.00 0 No comment SLC35A2 100.00 0 No comment SLC9A6 99.96 0 No comment SMPD4 99.97 0 No comment SNAP29 100.00 0 No comment SOX9 97.88 0 No comment AFG2A 100.00 0 No comment SRD5A3 99.42 0 No comment SRPX2 100.00 0 No comment STAMBP 100.00 0 No comment STIL 100.00 0 No comment STRADA 100.00 0 No comment TBC1D20 93.59 0 No comment TBC1D24 100.00 0 No comment TBC1D7 100.00 0 No comment TCF4 100.00 0 No comment TCTN1 93.78 0 No comment TGIF1 100.00 0 No comment TMEM216 100.00 0 No comment TMEM67 100.00 0 No comment TMX2 100.00 0 No comment TREX1 100.00 0 No comment TSC1 100.00 0 No comment TSC2 100.00 0 No comment TSEN54 94.23 0 No comment TUBA1A 100.00 0 No comment TUBA8 100.00 0 No comment TUBB 99.87 0 No comment TUBB2A 99.99 0 No comment TUBB2B 100.00 0 No comment TUBB3 98.24 0 No comment TUBB4A 99.85 0 No comment TUBG1 100.00 0 No comment TUBGCP4 99.99 0 No comment TUBGCP6 100.00 0 No comment UBE3A 100.00 0 No comment VLDLR 96.53 0 No comment VPS13B 99.25 0 No comment WDR62 100.00 0 No comment WDR73 100.00 0 No comment YWHAE 98.69 0 No comment ZEB2 100.00 0 No comment ZIC2 80.54 0 No comment ZNF335 100.00 0 No comment ZSWIM6 88.87 0 No comment