- Genetic tests
- Epilepsy (gene panel)
Epilepsy (gene panel)
Full name: |
Epilepsy (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: |
29 Nov 2019 - 15:33
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Changed: |
22 Jan 2024 - 11:38
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URL: |
- 17q11 microdeletion syndrome
- 9q33.3q34.11 microdeletion syndrome
- Action myoclonus-renal failure syndrome
- Atypical Rett syndrome
- Autosomal dominant epilepsy with auditory features
- Autosomal dominant nocturnal frontal lobe epilepsy
- Autosomal dominant non-syndromic intellectual disability
- Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency
- Autosomal recessive non-syndromic intellectual disability
- Baraitser-Winter cerebrofrontofacial syndrome
- Benign familial infantile epilepsy
- Benign familial neonatal epilepsy
- Benign familial neonatal-infantile seizures
- Bilateral generalized polymicrogyria
- CDKL5-deficiency disorder
- CLN1 disease
- CLN10 disease
- CLN2 disease
- CLN3 disease
- CLN4A disease
- CLN5 disease
- CLN6 disease
- CLN7 disease
- CLN8 disease
- CNTNAP2-related developmental and epileptic encephalopathy
- Childhood absence epilepsy
- Christianson syndrome
- Continuous spikes and waves during sleep
- Corpus callosum agenesis-abnormal genitalia syndrome
- Craniosynostosis-microretrognathia-severe intellectual disability syndrome
- Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome
- Dravet syndrome
- EAST syndrome
- Early infantile epileptic encephalopathy
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome
- Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
- Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome
- Epileptic encephalopathy with global cerebral demyelination
- FOXG1 syndrome
- Familial encephalopathy with neuroserpin inclusion bodies
- Familial focal epilepsy with variable foci
- Familial infantile myoclonic epilepsy
- Familial porencephaly
- Familial schizencephaly
- Female restricted epilepsy with intellectual disability
- Focal epilepsy-intellectual disability-cerebro-cerebellar malformation
- Generalized epilepsy with febrile seizures-plus
- Generalized epilepsy-paroxysmal dyskinesia syndrome
- Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome
- Hyperekplexia-epilepsy syndrome
- Infantile convulsions and choreoathetosis
- Infantile epileptic-dyskinetic encephalopathy
- Infantile spasms syndrome
- Isolated focal cortical dysplasia type IIa
- Isolated focal cortical dysplasia type IIb
- Isolated focal cortical dysplasia type Ia
- Juvenile myoclonic epilepsy
- KCNQ2-related epileptic encephalopathy
- KDM5C-related syndromic X-linked intellectual disability
- Kleefstra syndrome due to 9q34 microdeletion
- Lafora disease
- Landau-Kleffner syndrome
- Lennox-Gastaut syndrome
- Lissencephaly due to LIS1 mutation
- Lissencephaly due to TUBA1A mutation
- Lissencephaly syndrome, Norman-Roberts type
- Lissencephaly type 1 due to doublecortin gene mutation
- Malignant migrating focal seizures of infancy
- Miller-Dieker syndrome
- Mowat-Wilson syndrome due to a ZEB2 point mutation
- Mowat-Wilson syndrome due to monosomy 2q22
- Myoclonic-astatic epilepsy
- Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
- Non-specific early-onset epileptic encephalopathy
- PEHO syndrome
- Partington syndrome
- Periventricular nodular heterotopia
- Pitt-Hopkins syndrome
- Pitt-Hopkins-like syndrome
- Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome
- Progressive epilepsy-intellectual disability syndrome, Finnish type
- Progressive myoclonic epilepsy type 1
- Progressive myoclonic epilepsy type 3
- Progressive myoclonic epilepsy type 5
- Progressive myoclonic epilepsy type 6
- Progressive myoclonic epilepsy type 7
- Progressive myoclonic epilepsy type 8
- Progressive myoclonic epilepsy with dystonia
- Proteus syndrome
- Rett syndrome
- Rolandic epilepsy
- Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
- Rolandic epilepsy-speech dyspraxia syndrome
- SYNGAP1-related developmental and epileptic encephalopathy
- Semilobar holoprosencephaly
- Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome
- Severe neonatal-onset encephalopathy with microcephaly
- Thiamine-responsive encephalopathy
- Tuberous sclerosis complex
- Walker-Warburg syndrome
- X-linked epilepsy-learning disabilities-behavior disorders syndrome
- X-linked lissencephaly with abnormal genitalia
- X-linked non-syndromic intellectual disability
- X-linked spasticity-intellectual disability-epilepsy syndrome
- AARS1
- ABAT
- ACD
- ACTB
- ACTG1
- ACTL6B
- ACY1
- ADAR
- ADPRS
- ADSL
- AFG2A
- AFG3L2
- ALDH7A1
- ALG11
- ALG13
- AMT
- ANKRD11
- AP3B2
- AP4S1
- ARFGEF2
- ARHGEF9
- ARID1B
- ARV1
- ARX
- ASXL3
- ATN1
- ATP1A2
- ATP1A3
- BRAT1
- BSCL2
- CACNA1A
- CACNA1B
- CACNA1E
- CACNA1G
- CACNA2D2
- CASK
- CDK13
- CDKL5
- CERS1
- CERT1
- CHD2
- CLCN4
- CLN3
- CLN5
- CLN6
- CLN8
- CLTC
- CNKSR2
- CNTNAP2
- COL18A1
- COL4A1
- CPLX1
- CPT2
- CSNK2B
- CSTB
- CTSD
- CUX2
- CYFIP2
- DCX
- DDX3X
- DENND5A
- DEPDC5
- DHDDS
- DMXL2
- DNM1
- DNM1L
- DOCK7
- DYRK1A
- EEF1A2
- EHMT1
- EPM2A
- FARS2
- FGF12
- FLNA
- FMN2
- FMR1
- FOLR1
- FOXG1
- FRRS1L
- FZR1
- GABBR2
- GABRA1
- GABRA2
- GABRB1
- GABRB2
- GABRB3
- GABRG2
- GAD1
- GAMT
- GBA1
- GLDC
- GNAO1
- GNB1
- GNB5
- GOSR2
- GPHN
- GRIA2
- GRIA3
- GRIK2
- GRIN1
- GRIN2A
- GRIN2B
- GRIN2D
- HCN1
- HECW2
- HNRNPU
- HUWE1
- IER3IP1
- IFIH1
- IQSEC2
- IRF2BPL
- ITPA
- KANSL1
- KARS1
- KCNA1
- KCNA2
- KCNB1
- KCNC1
- KCNH1
- KCNJ10
- KCNK4
- KCNMA1
- KCNQ2
- KCNQ3
- KCNQ5
- KCNT1
- KCNT2
- KCTD7
- KDM5C
- KIF1A
- KIF2A
- KIF5C
- KMT2E
- MAP1B
- MBD5
- MECP2
- MED13L
- MEF2C
- MFSD8
- MOCS1
- MOCS2
- MTOR
- NARS2
- NBEA
- NEU1
- NEXMIF
- NF1
- NF2
- NHLRC1
- NIPA1
- NPRL2
- NPRL3
- NRXN1
- NTRK2
- NUS1
- OTUD6B
- PACS2
- PAFAH1B1
- PARS2
- PCDH19
- PHACTR1
- PIGA
- PIGN
- PIGQ
- PIGS
- PIGT
- PLCB1
- PLPBP
- PNKP
- PNPO
- POLG
- PPP2R5D
- PPP3CA
- PPT1
- PRICKLE1
- PRRT2
- PTEN
- PURA
- QARS1
- RELN
- RHOBTB2
- RNASEH2A
- RNASEH2B
- RNASEH2C
- ROGDI
- RORA
- RORB
- RTN4IP1
- SAMHD1
- SCARB2
- SCN1A
- SCN1B
- SCN2A
- SCN3A
- SCN8A
- SERPINI1
- SETD2
- SIK1
- SLC12A5
- SLC13A5
- SLC19A3
- SLC1A2
- SLC25A12
- SLC25A22
- SLC2A1
- SLC35A2
- SLC35A3
- SLC6A1
- SLC6A8
- SLC9A6
- SMARCA2
- SMC1A
- SNAP25
- SPTAN1
- ST3GAL3
- ST3GAL5
- STAG1
- STX1B
- STXBP1
- SYN1
- SYNGAP1
- SYNJ1
- SZT2
- TANC2
- TBC1D24
- TBCD
- TCF4
- TK2
- TRAK1
- TRAPPC6B
- TREX1
- TRIT1
- TSC1
- TSC2
- TUBA1A
- TUBB2B
- UBA5
- UBE3A
- UFC1
- UGDH
- VARS1
- VARS2
- WDR26
- WDR45
- WWOX
- YWHAG
- ZBTB18
- ZEB2
- ZNHIT3
-
Rare epilepsy with developmental delay (> 240 genes) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AARS1 100.00 0 No comment ABAT 100.00 0 No comment ACTB 99.92 0 No comment ACTG1 100.00 0 No comment ACTL6B 99.16 0 No comment ACY1 99.96 0 No comment ADAR 99.99 0 No comment ADPRS 91.11 0 No comment ADSL 99.73 0 No comment AFG3L2 95.23 0 No comment ALDH7A1 99.83 0 No comment ALG11 100.00 0 No comment ALG13 95.29 0 No comment AMT 100.00 0 No comment ANKRD11 99.99 0 No comment AP3B2 97.74 0 No comment AP4S1 87.73 0 No comment ARFGEF2 99.81 0 No comment ARHGEF9 99.89 0 No comment ARID1B 87.88 0 No comment ARV1 89.03 0 No comment ARX 59.32 0 No comment ASXL3 99.74 0 No comment ATN1 99.12 0 No comment ATP1A2 99.88 0 No comment ATP1A3 99.81 0 No comment BRAT1 99.96 0 No comment BSCL2 100.00 0 No comment CACNA1A 92.18 0 No comment CACNA1B 93.35 0 No comment CACNA1E 99.99 0 No comment CACNA1G 99.63 0 No comment CACNA2D2 94.11 0 No comment CASK 99.78 0 No comment CDK13 88.47 0 No comment CDKL5 97.71 0 No comment CERS1 76.68 0 No comment CERT1 99.89 0 No comment CHD2 99.95 0 No comment CLCN4 99.94 0 No comment CLN3 99.98 0 No comment CLN5 97.84 0 No comment CLN6 91.00 0 No comment CLN8 100.00 0 No comment CLTC 100.00 0 No comment CNKSR2 99.28 0 No comment CNTNAP2 99.99 0 No comment COL18A1 96.27 0 No comment COL4A1 98.54 0 No comment CPLX1 99.70 0 No comment CPT2 97.07 0 No comment CSNK2B 100.00 0 No comment CSTB 92.54 0 No comment CTSD 97.90 0 No comment CUX2 98.72 0 No comment CYFIP2 99.99 0 No comment DCX 99.86 0 No comment DDX3X 99.66 0 No comment DENND5A 98.99 0 No comment DEPDC5 99.97 0 No comment DHDDS 99.77 0 No comment DMXL2 99.86 0 No comment DNM1 94.54 0 No comment DNM1L 99.97 0 No comment DOCK7 99.35 0 No comment DYRK1A 100.00 0 No comment EEF1A2 91.59 0 No comment EHMT1 98.44 0 No comment EPM2A 81.75 0 No comment FARS2 99.99 0 No comment FGF12 100.00 0 No comment FLNA 99.50 0 No comment FMN2 92.71 0 No comment FMR1 99.71 0 No comment FOLR1 100.00 0 No comment FOXG1 75.13 0 No comment FRRS1L 69.11 0 No comment FZR1 100.00 0 No comment GABBR2 95.14 0 No comment GABRA1 100.00 0 No comment GABRA2 100.00 0 No comment GABRB1 100.00 0 No comment GABRB2 100.00 0 No comment GABRB3 98.87 0 No comment GABRG2 92.15 0 No comment GAD1 100.00 0 No comment GAMT 95.00 0 No comment GBA1 100.00 0 No comment GLDC 96.06 0 No comment GNAO1 100.00 0 No comment GNB1 100.00 0 No comment GNB5 99.70 0 No comment GOSR2 99.87 0 No comment GPHN 100.00 0 No comment GRIA2 100.00 0 No comment GRIA3 97.93 0 No comment GRIK2 99.97 0 No comment GRIN1 99.74 0 No comment GRIN2A 100.00 0 No comment GRIN2B 100.00 0 No comment GRIN2D 61.45 0 No comment HCN1 93.52 0 No comment HECW2 99.99 0 No comment HNRNPU 95.95 0 No comment HUWE1 99.62 0 No comment IER3IP1 99.80 0 No comment IFIH1 99.99 0 No comment IQSEC2 91.31 0 No comment IRF2BPL 91.18 0 No comment ITPA 100.00 0 No comment KANSL1 99.98 0 No comment KARS1 99.99 0 No comment KCNA1 100.00 0 No comment KCNA2 100.00 0 No comment KCNB1 99.01 0 No comment KCNC1 99.52 0 No comment KCNH1 99.96 0 No comment KCNJ10 100.00 0 No comment KCNK4 96.68 0 No comment KCNMA1 99.92 0 No comment KCNQ2 98.57 0 No comment KCNQ3 95.56 0 No comment KCNQ5 94.69 0 No comment KCNT1 97.66 0 No comment KCNT2 100.00 0 No comment KCTD7 97.74 0 No comment KDM5C 99.69 0 No comment KIF1A 99.96 0 No comment KIF2A 99.83 0 No comment KIF5C 99.91 0 No comment KMT2E 99.89 0 No comment MAP1B 99.93 0 No comment MBD5 100.00 0 No comment MECP2 91.83 0 No comment MED13L 99.94 0 No comment MEF2C 100.00 0 No comment MFSD8 100.00 0 No comment MOCS1 97.59 0 No comment MOCS2 100.00 0 No comment MTOR 99.89 0 No comment NARS2 99.98 0 No comment NBEA 98.89 0 No comment NEU1 100.00 0 No comment NEXMIF 99.96 0 No comment NF1 99.55 0 No comment NF2 99.93 0 No comment NHLRC1 99.28 0 No comment NIPA1 84.21 0 No comment NPRL2 100.00 0 No comment NPRL3 100.00 0 No comment NRXN1 98.90 0 No comment NTRK2 100.00 0 No comment NUS1 98.46 0 No comment OTUD6B 99.73 0 No comment PACS2 96.45 0 No comment PAFAH1B1 100.00 0 No comment PARS2 100.00 0 No comment PCDH19 99.80 0 No comment PHACTR1 97.55 0 No comment PIGA 99.89 0 No comment PIGN 99.84 0 No comment PIGQ 100.00 0 No comment PIGS 100.00 0 No comment PIGT 100.00 0 No comment PLCB1 99.97 0 No comment PLPBP 99.57 0 No comment PNKP 99.98 0 No comment PNPO 99.98 0 No comment POLG 99.86 0 No comment PPP2R5D 99.94 0 No comment PPP3CA 99.93 0 No comment PPT1 100.00 0 No comment PRICKLE1 100.00 0 No comment PRRT2 100.00 0 No comment PTEN 92.28 0 No comment PURA 85.06 0 No comment QARS1 100.00 0 No comment RELN 99.97 0 No comment RHOBTB2 99.98 0 No comment RNASEH2A 99.99 0 No comment RNASEH2B 93.70 0 No comment RNASEH2C 95.34 0 No comment ROGDI 94.47 0 No comment RORA 97.11 0 No comment RORB 100.00 0 No comment RTN4IP1 100.00 0 No comment SAMHD1 100.00 0 No comment SCARB2 100.00 0 No comment SCN1A 99.91 0 No comment SCN1B 95.75 0 No comment SCN2A 100.00 0 No comment SCN3A 100.00 0 No comment SCN8A 99.95 0 No comment SERPINI1 99.98 0 No comment SETD2 99.95 0 No comment SIK1 99.98 0 No comment SLC12A5 99.55 0 No comment SLC13A5 99.89 0 No comment SLC19A3 100.00 0 No comment SLC1A2 99.99 0 No comment SLC25A12 100.00 0 No comment SLC25A22 99.88 0 No comment SLC2A1 99.27 0 No comment SLC35A2 99.82 0 No comment SLC35A3 99.97 0 No comment SLC6A1 99.93 0 No comment SLC6A8 91.78 0 No comment SLC9A6 94.23 0 No comment SMARCA2 97.46 0 No comment SMC1A 99.50 0 No comment SNAP25 100.00 0 No comment AFG2A 100.00 0 No comment SPTAN1 99.98 0 No comment ST3GAL3 100.00 0 No comment ST3GAL5 93.40 0 No comment STAG1 99.98 0 No comment STX1B 99.89 0 No comment STXBP1 100.00 0 No comment SYN1 75.34 0 No comment SYNGAP1 98.18 0 No comment SYNJ1 99.27 0 No comment SZT2 99.94 0 No comment TANC2 100.00 0 No comment TBC1D24 99.73 0 No comment TBCD 96.99 0 No comment TCF4 99.90 0 No comment TK2 85.99 0 No comment ACD 99.86 0 No comment TRAK1 99.99 0 No comment TRAPPC6B 100.00 0 No comment TREX1 100.00 0 No comment TRIT1 99.98 0 No comment TSC1 99.97 0 No comment TSC2 99.99 0 No comment TUBA1A 100.00 0 No comment TUBB2B 100.00 0 No comment UBA5 99.97 0 No comment UBE3A 99.97 0 No comment UFC1 99.91 0 No comment UGDH 99.96 0 No comment VARS1 100.00 0 No comment VARS2 100.00 0 No comment WDR26 99.78 0 No comment WDR45 99.67 0 No comment WWOX 100.00 0 No comment YWHAG 100.00 0 No comment ZBTB18 99.11 0 No comment ZEB2 99.91 0 No comment ZNHIT3 74.73 0 No comment