- Genetic tests
- Cerebral palsy (gene panel)
Cerebral palsy (gene panel)
Full name: |
Cerebral palsy (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: | |
EQA: |
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Accreditation (ISO 15189): |
2023-11-09 / 2024-05-08
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Turnaround time (maximum): |
6 months
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Document(s): | |
Created: |
20 Aug 2019 - 11:13
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Changed: |
22 Jan 2024 - 13:37
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URL: |
- ACOX1
- ACTA2
- ADA2
- ADCY5
- ADD3
- AFG3L2
- AHI1
- AIMP1
- AKT3
- ALDH3A2
- ALDH5A1
- ALS2
- AMPD2
- AMT
- AP4B1
- AP4E1
- AP4M1
- AP4S1
- ARG1
- ARSA
- ARX
- ASPA
- ATAD3A
- ATL1
- ATM
- ATP7B
- AUTS2
- BCKDHA
- BCKDHB
- BSCL2
- BTD
- CACNA1A
- CDKL5
- CEP290
- CLN3
- COL4A1
- COL4A2
- COQ8A
- CTNNB1
- CYP2U1
- CYP7B1
- DARS1
- DBT
- DDC
- DDHD1
- DDHD2
- DGUOK
- DLD
- DYRK1A
- EIF2B1
- EIF2B2
- EIF2B3
- EIF2B4
- EIF2B5
- ELP2
- EPHB4
- ERLIN2
- F10
- FBXO31
- FH
- FLVCR2
- FOXC1
- FOXG1
- GAD1
- GALC
- GALT
- GAMT
- GBA1
- GCH1
- GCSH
- GFAP
- GJC2
- GLB1
- GLDC
- GLRA1
- GM2A
- GNAO1
- GNB1
- GPHN
- GRID2
- GRIN1
- GRIN2B
- HESX1
- HEXA
- HIKESHI
- HPRT1
- HSPD1
- HYCC1
- IFIH1
- ISG15
- ITPR1
- JAM3
- KANK1
- KCNC3
- KCNQ2
- KDM5C
- KIDINS220
- KIF1A
- KIF1C
- KIF5A
- L1CAM
- L2HGDH
- LAMA2
- MARS2
- MCPH1
- MECP2
- MMUT
- MOCS1
- MOCS2
- MTHFR
- MTOR
- MTPAP
- MTRFR
- MTTP
- NIPA1
- NKX2-1
- NKX6-2
- NOTCH3
- NPC1
- NPC2
- NPHP1
- NT5C2
- PAFAH1B1
- PAK3
- PANK2
- PCCA
- PCCB
- PCYT2
- PDHA1
- PDHX
- PHYH
- PIK3CA
- PLA2G6
- PLAA
- PLP1
- PMM2
- PNP
- POLG
- POLR1C
- POLR3A
- POLR3B
- PPT1
- PYCR2
- QDPR
- RARS1
- RASA1
- REEP1
- RNASEH2A
- RNASEH2B
- RNASEH2C
- RNASET2
- RTN2
- SACS
- SAMHD1
- SCN8A
- SELENOI
- SEPSECS
- SHH
- SIX3
- SLC16A2
- SLC17A5
- SLC19A3
- SLC2A1
- SLC5A6
- SLC6A1
- SLC6A5
- SPAST
- SPG11
- SPG7
- SPR
- SPTBN2
- ST3GAL5
- STAT2
- STING1
- STXBP1
- SUOX
- SURF1
- TAF2
- TECPR2
- TGIF1
- TH
- TPP1
- TRAPPC12
- TREX1
- TSEN15
- TSEN2
- TSEN54
- TTPA
- TUBA1A
- TUBA8
- TUBB
- TUBB2A
- TUBB2B
- TUBB3
- TUBB4A
- TUBG1
- UBE3A
- USP18
- VPS11
- VPS37A
- VPS53
- YY1AP1
- ZBTB18
- ZC4H2
- ZFYVE26
- ZIC2
-
Cerebral palsy (212 genes) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ACOX1 ADA2 ADCY5 ADD3 AFG3L2 AHI1 AIMP1 AKT3 ALDH3A2 ALDH5A1 AMT AP4B1 AP4E1 AP4M1 AP4S1 ARG1 ARSA ARX ASPA ATL1 ATM ATP7B AUTS2 BCKDHA BCKDHB BSCL2 BTD MTRFR CDKL5 CEP290 CLN3 COL4A1 COL4A2 COQ8A CYP2U1 CYP7B1 DARS1 DBT DDC DDHD1 DDHD2 DLD DYRK1A EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 ELP2 ERLIN2 F10 HYCC1 FH FOXC1 FOXG1 GAD1 GALC GALT GAMT GBA1 GCH1 GCSH GFAP GJC2 GLB1 GLDC GLRA1 GM2A GPHN GRID2 GRIN1 GRIN2B HESX1 HEXA HIKESHI HPRT1 HSPD1 IFIH1 ISG15 ITPR1 KANK1 KCNC3 KDM5C KIF1A KIF1C KIF5A L1CAM L2HGDH LAMA2 MARS2 MCPH1 MECP2 MOCS1 MOCS2 MTHFR MTOR MTPAP MTTP MMUT NIPA1 NKX2-1 NKX6-2 NOTCH3 NPC1 NPC2 NPHP1 PAFAH1B1 PAK3 PANK2 PCCA PCCB PDHA1 PDHX PHYH PIK3CA PLA2G6 PLAA PLP1 PMM2 PNP POLG POLR1C POLR3A POLR3B PPT1 PYCR2 QDPR RARS1 REEP1 RNASEH2A RNASEH2B RNASEH2C RNASET2 RTN2 SACS SAMHD1 SCN8A SEPSECS SHH SIX3 SLC16A2 SLC17A5 SLC19A3 SLC2A1 SLC5A6 SLC6A1 SLC6A5 SPAST SPG11 SPG7 SPR SPTBN2 SUOX SURF1 TECPR2 TGIF1 TH TPP1 TRAPPC12 TREX1 TSEN15 TSEN2 TSEN54 TTPA TUBA1A TUBA8 TUBB TUBB2A TUBB2B TUBB3 TUBB4A TUBG1 UBE3A USP18 VPS11 VPS37A VPS53 ZFYVE26 ZIC2 ACTA2 ALS2 AMPD2 ATAD3A CACNA1A CTNNB1 DGUOK EPHB4 FBXO31 FLVCR2 GNAO1 GNB1 JAM3 KCNQ2 KIDINS220 NT5C2 PCYT2 RASA1 SELENOI ST3GAL5 STAT2 STING1 STXBP1 TAF2 YY1AP1 ZBTB18 ZC4H2