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  2. Epilepsy without developmental delay, familial (gene panel)

Epilepsy without developmental delay, familial (gene panel)

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Full name:
Epilepsy without developmental delay, familial (gene panel)
Test type:
Clinical
Test specialty:
Molecular Genetics
Test purpose:
Post-natal Diagnosis
Specimen:
Peripheral (whole) blood on EDTA
Method category:
Whole Exome Sequencing (WES)
Method technique:
Next Generation Sequencing (NGS)
Laboratory:
Centrum Medische Genetica - UZ Antwerpen
RIZIV code:
565493-565504
Accreditation (ISO 15189):
2023-11-09 / 2024-05-08
Turnaround time (maximum):
6 months
Document(s):
Created:
05 Dec 2023 - 09:46
Changed:
22 Jan 2024 - 11:39
URL:
https://labogidsmedgen.uza.be/analyses/epilepsie-zonder-ontwikkelingsachterstan…
  • (Familial) epilepsy without developmental delay (gene panel)
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ATP1A2 99.96 1
    ATP1A3 99.99 1
    CHRNA2 100.00 1
    CHRNA4 99.75 1
    CHRNB2 99.96 1
    CPA6 99.98 1
    DEPDC5 99.97 1
    FLNA 99.89 1
    GABRA1 99.98 1
    GABRB3 99.96 1
    GABRG2 97.95 1
    GRIN2A 99.95 1
    HCN1 99.78 1
    HCN2 81.16 1
    KCNMA1 99.95 1
    KCNQ2 99.98 1
    KCNQ3 99.74 1
    KCNT1 99.93 1
    LGI1 99.99 1
    MTOR 99.88 1
    NEXMIF 99.85 1
    NPRL2 100.00 1
    NPRL3 99.98 1
    PCDH19 99.93 1
    PRRT2 100.00 1
    RELN 99.94 1
    RORB 99.95 1
    SCN1A 99.89 1
    SCN1B 99.63 1
    SCN2A 99.92 1
    SCN3A 99.95 1
    SCN8A 99.90 1
    SLC2A1 100.00 1
    SLC32A1 100.00 1
    SLC7A3 99.48 1
    STX1B 99.92 1
    TBC1D24 99.97 1
    TSC1 99.96 1
    TSC2 99.99 1
    SETD1A 99.55 1