- 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): |
2024-02-15 / 2028-11-08
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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: |
13 Mar 2024 - 11:53
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URL: |
- ACOX1
- ACTA2
- ADA2
- ADAR
- ADCY5
- ADD3
- ADGRG1
- AFG3L2
- AGAP1
- AHI1
- AIMP1
- AKT3
- ALDH3A2
- ALDH5A1
- ALS2
- AMFR
- AMPD2
- AMT
- AP1S2
- AP4B1
- AP4E1
- AP4M1
- AP4S1
- ARFGEF2
- ARG1
- ARL13B
- ARSA
- ARX
- ASPA
- ATAD3A
- ATG5
- ATG7
- ATL1
- ATM
- ATP1A3
- ATP7B
- AUTS2
- BCKDHA
- BCKDHB
- BSCL2
- BTD
- CACNA1A
- CAMK4
- CAMSAP1
- CCDC82
- CCND2
- CDC40
- CDKL5
- CEP290
- CHKA
- CLN3
- CNTNAP2
- COL4A1
- COL4A2
- COLGALT1
- COPB2
- COQ8A
- CRADD
- CTNNB1
- CYP2U1
- CYP7B1
- DARS1
- DBT
- DCX
- DDC
- DDHD1
- DDHD2
- DGUOK
- DLD
- DSTYK
- DYNC1H1
- DYRK1A
- EIF2B1
- EIF2B2
- EIF2B3
- EIF2B4
- EIF2B5
- EIF4A2
- ELP2
- EML1
- EPHB4
- ERLIN2
- ERMARD
- ESAM
- F10
- FARS2
- FBXO31
- FH
- FLVCR2
- FOXC1
- FOXG1
- FRMD5
- GAD1
- GALC
- GALT
- GAMT
- GBA1
- GCH1
- GCSH
- GEMIN5
- GFAP
- GJC2
- GLB1
- GLDC
- GLRA1
- GM2A
- GNAO1
- GNB1
- GPHN
- GRID2
- GRIN1
- GRIN2B
- HECTD4
- HEPACAM
- HESX1
- HEXA
- HIKESHI
- HPRT1
- HSPD1
- HYCC1
- IFIH1
- INTS8
- ISG15
- ITPR1
- JAM3
- KANK1
- KATNB1
- KCNC3
- KCNQ2
- KDM5C
- KIDINS220
- KIF1A
- KIF1C
- KIF2A
- KIF5A
- KIF5C
- KPNA3
- L1CAM
- L2HGDH
- LAMA2
- LAMC3
- LMBRD2
- MACF1
- MARS1
- MARS2
- MCPH1
- MECP2
- MINPP1
- MMUT
- MOCS1
- MOCS2
- MRPS25
- MTHFR
- MTOR
- MTPAP
- MTRFR
- MTTP
- NDE1
- NIPA1
- NKX2-1
- NKX6-2
- NOTCH3
- NPC1
- NPC2
- NPHP1
- NSRP1
- NT5C2
- PAFAH1B1
- PAK3
- PANK2
- PCCA
- PCCB
- PCYT2
- PDHA1
- PDHX
- PHYH
- PIK3CA
- PITRM1
- PLA2G6
- PLAA
- PLP1
- PMM2
- PNP
- POLG
- POLR1C
- POLR3A
- POLR3B
- PPIL1
- PPT1
- PRDM13
- PYCR2
- QDPR
- RAB11B
- RARS1
- RASA1
- REEP1
- RELN
- RHOB
- RNASEH2A
- RNASEH2B
- RNASEH2C
- RNASET2
- RNU7-1
- RTN2
- SACS
- SAMHD1
- SCN3A
- SCN8A
- SELENOI
- SEPSECS
- SHH
- SHQ1
- SIX3
- SLC16A2
- SLC17A5
- SLC18A2
- SLC19A3
- SLC2A1
- SLC5A6
- SLC6A1
- SLC6A5
- SPAST
- SPG11
- SPG7
- SPR
- SPTBN2
- ST3GAL5
- STAT2
- STING1
- STXBP1
- SUOX
- SURF1
- TAF2
- TCTN1
- TECPR2
- TFG
- TGIF1
- TH
- THG1L
- TMEM63C
- TMX2
- TNR
- TPP1
- TRAPPC12
- TREX1
- TSEN15
- TSEN2
- TSEN54
- TTI1
- TTPA
- TUBA1A
- TUBA8
- TUBB
- TUBB2A
- TUBB2B
- TUBB3
- TUBB4A
- TUBG1
- UBE3A
- USP18
- VLDLR
- VPS11
- VPS37A
- VPS53
- WDR62
- YY1AP1
- ZBTB18
- ZC4H2
- ZFYVE26
- ZIC2
-
Cerebral palsy (genepanel) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ACOX1 100.00 1 ACTA2 100.00 1 ADA2 100.00 1 ADAR 99.98 1 ADCY5 100.00 1 ADD3 100.00 1 ADGRG1 100.00 1 AFG3L2 100.00 1 AGAP1 100.00 1 AHI1 99.95 1 AIMP1 99.99 1 AKT3 99.95 1 ALDH3A2 99.99 1 ALDH5A1 100.00 1 ALS2 99.99 1 AMFR 95.21 1 AMPD2 100.00 1 AMT 100.00 1 AP1S2 99.98 1 AP4B1 99.99 1 AP4E1 99.98 1 AP4M1 100.00 1 AP4S1 87.79 1 ARFGEF2 100.00 1 ARG1 100.00 1 ARL13B 93.63 1 ARSA 100.00 1 ARX 99.93 1 ASPA 99.97 1 ATAD3A 100.00 1 ATG5 99.98 1 ATG7 100.00 1 ATL1 100.00 1 ATM 99.97 1 ATP1A3 100.00 1 ATP7B 100.00 1 AUTS2 99.99 1 BCKDHA 100.00 1 BCKDHB 100.00 1 BSCL2 100.00 1 BTD 100.00 1 CACNA1A 100.00 1 CAMK4 100.00 1 CAMSAP1 99.97 1 CCDC82 99.98 1 CCND2 100.00 1 CDC40 99.99 1 CDKL5 100.00 1 CEP290 99.84 1 CHKA 97.23 1 CLN3 100.00 1 CNTNAP2 100.00 1 COL4A1 100.00 1 COL4A2 100.00 1 COLGALT1 98.45 1 COPB2 100.00 1 COQ8A 100.00 1 CRADD 100.00 1 CTNNB1 100.00 1 CYP2U1 99.27 1 CYP7B1 99.95 1 DARS1 100.00 1 DBT 100.00 1 DCX 100.00 1 DDC 100.00 1 DDHD1 100.00 1 DDHD2 99.97 1 DGUOK 100.00 1 DLD 100.00 1 DSTYK 100.00 1 DYNC1H1 100.00 1 DYRK1A 100.00 1 EIF2B1 100.00 1 EIF2B2 100.00 1 EIF2B3 100.00 1 EIF2B4 100.00 1 EIF2B5 100.00 1 EIF4A2 99.97 1 ELP2 99.99 1 EML1 100.00 1 EPHB4 99.99 1 ERLIN2 100.00 1 ERMARD 100.00 1 ESAM 100.00 1 F10 100.00 1 HYCC1 99.98 1 FARS2 100.00 1 FBXO31 99.94 1 FH 100.00 1 FLVCR2 100.00 1 FOXC1 99.89 1 FOXG1 100.00 1 FRMD5 100.00 1 GAD1 100.00 1 GALC 99.99 1 GALT 100.00 1 GAMT 100.00 1 GBA1 100.00 1 GCH1 100.00 1 GCSH 99.93 1 GEMIN5 100.00 1 GFAP 100.00 1 GJC2 99.67 1 GLB1 100.00 1 GLDC 99.96 1 GLRA1 100.00 1 GM2A 100.00 1 GNAO1 100.00 1 GNB1 99.98 1 GPHN 100.00 1 GRID2 100.00 1 GRIN1 100.00 1 GRIN2B 100.00 1 HECTD4 99.98 1 HEPACAM 100.00 1 HESX1 99.97 1 HEXA 100.00 1 HIKESHI 100.00 1 HPRT1 100.00 1 HSPD1 100.00 1 IFIH1 99.99 1 INTS8 99.98 1 ISG15 100.00 1 ITPR1 100.00 1 JAM3 100.00 1 KANK1 100.00 1 KATNB1 100.00 1 KCNC3 99.10 1 KCNQ2 100.00 1 KDM5C 99.07 1 KIDINS220 100.00 1 KIF1A 100.00 1 KIF1C 100.00 1 KIF2A 99.98 1 KIF5A 100.00 1 KIF5C 100.00 1 KPNA3 100.00 1 L1CAM 100.00 1 L2HGDH 99.97 1 LAMA2 100.00 1 LAMC3 99.77 1 LMBRD2 99.96 1 MACF1 100.00 1 MARS1 100.00 1 MARS2 100.00 1 MCPH1 94.71 1 MECP2 100.00 1 MINPP1 99.99 1 MMUT 99.96 1 MOCS1 100.00 1 MOCS2 100.00 1 MRPS25 100.00 1 MTHFR 100.00 1 MTOR 99.99 1 MTPAP 99.99 1 MTRFR 100.00 1 MTTP 100.00 1 NDE1 100.00 1 NIPA1 99.99 1 NKX2-1 100.00 1 NKX6-2 100.00 1 NOTCH3 99.79 1 NPC1 99.99 1 NPC2 100.00 1 NPHP1 99.98 1 NSRP1 99.99 1 NT5C2 100.00 1 PAFAH1B1 99.97 1 PAK3 99.99 1 PANK2 100.00 1 PCCA 99.99 1 PCCB 100.00 1 PCYT2 99.91 1 PDHA1 100.00 1 PDHX 100.00 1 PHYH 100.00 1 PIK3CA 99.97 1 PITRM1 99.99 1 PLA2G6 100.00 1 PLAA 100.00 1 PLP1 100.00 1 PMM2 100.00 1 PNP 100.00 1 POLG 99.99 1 POLR1C 97.57 1 POLR3A 100.00 1 POLR3B 99.98 1 PPIL1 100.00 1 PPT1 100.00 1 PRDM13 100.00 1 PYCR2 100.00 1 QDPR 100.00 1 RAB11B 100.00 1 RARS1 99.68 1 RASA1 99.86 1 REEP1 100.00 1 RELN 100.00 1 RHOB 100.00 1 RNASEH2A 100.00 1 RNASEH2B 99.96 1 RNASEH2C 100.00 1 RNASET2 100.00 1 RNU7-1 0.29 1 RTN2 100.00 1 SACS 99.99 1 SAMHD1 100.00 1 SCN3A 99.98 1 SCN8A 99.99 1 SELENOI 100.00 1 SEPSECS 99.96 1 SHH 100.00 1 SHQ1 100.00 1 SIX3 100.00 1 SLC16A2 100.00 1 SLC17A5 99.99 1 SLC18A2 100.00 1 SLC19A3 99.98 1 SLC2A1 100.00 1 SLC5A6 100.00 1 SLC6A1 100.00 1 SLC6A5 100.00 1 SPAST 100.00 1 SPG11 100.00 1 SPG7 100.00 1 SPR 100.00 1 SPTBN2 100.00 1 ST3GAL5 99.94 1 STAT2 100.00 1 STING1 100.00 1 STXBP1 100.00 1 SUOX 100.00 1 SURF1 99.77 1 TAF2 99.98 1 TCTN1 94.52 1 TECPR2 100.00 1 TFG 99.73 1 TGIF1 100.00 1 TH 100.00 1 THG1L 100.00 1 TMEM63C 100.00 1 TMX2 100.00 1 TNR 100.00 1 TPP1 100.00 1 TRAPPC12 100.00 1 TREX1 100.00 1 TSEN15 100.00 1 TSEN2 86.92 1 TSEN54 99.54 1 TTI1 100.00 1 TTPA 100.00 1 TUBA1A 100.00 1 TUBA8 100.00 1 TUBB 100.00 1 TUBB2A 100.00 1 TUBB2B 100.00 1 TUBB3 100.00 1 TUBB4A 99.87 1 TUBG1 100.00 1 UBE3A 99.98 1 USP18 100.00 1 VLDLR 100.00 1 VPS11 100.00 1 VPS37A 99.99 1 VPS53 99.98 1 WDR62 100.00 1 YY1AP1 100.00 1 ZBTB18 99.88 1 ZC4H2 100.00 1 ZFYVE26 100.00 1 ZIC2 100.00 1