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Dystonia (gene panel)

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Full name:
Dystonia (gene panel)
Description:

Single case analyse: Dystonie panel versie 5 - SC (68 genen): ACTB (NM_001101.4), ADCY5 (NM_183357.2), ANO3 (NM_031418.3), ARSA (NM_000487.5), ARX (NM_139058.2), ATM (NM_000051.3), ATP1A3 (NM_152296.5), ATP7B (NM_000053.3), AUH (NM_001698.2), BCAP31 (NM_001139441.1), C19orf12 (NM_001031726.3), CACNA1B (NM_000718.3), CIZ1 (NM_012127.2), COASY (NM_025233.6), COL6A3 (NM_004369.3), CP (NM_000096.3), CYP27A1 (NM_000784.3), DCAF17 (NM_025000.3), DDC (NM_000790.3), DRD2 (NM_000795.3), FA2H (NM_024306.4), FTL (NM_000146.3), GCDH (NM_000159.3), GCH1 (NM_000161.2), GLB1 (NM_000404.3), GNAL (NM_001142339.2), GNAO1 (NM_020988.2), GNB1 (NM_002074.4), HEXA (NM_000520.5), HEXB (NM_000521.3), HPCA (NM_002143.2), HPRT1 (NM_000194.2), KCNMA1 (NM_002247.3), KCTD17 (NM_001282684.1), KMT2B (NM_014727.2), MECR (NM_016011.4), MR1 (NM_001194999.1), NKX2-1 (NM_001079668.2), NPC1 (NM_000271.4), NPC2 (NM_006432.3), PANK2 (NM_153638.3), PLA2G6 (NM_003560.3), PNKD (NM_015488.4), PRKRA (NM_003690.4), PRRT2 (NM_145239.2), PTS (NM_000317.2), RELN (NM_005045.3), SERAC1 (NM_032861.3), SGCE (NM_003919.2), SLC18A2 (NM_003054.4), SLC19A3 (NM_025243.3), SLC2A1 (NM_006516.2), SLC30A10 (NM_018713.2), SLC39A14 (NM_015359.5), SLC6A3 (NM_001044.4), SMPD1 (NM_000543.4), SPR (NM_003124.4), SUCLG1 (NM_003849.3), TAF1 (NM_004606.4), TBCD (NM_005993.4), TH (NM_199292.2), THAP1 (NM_018105.2), TIMM8A (NM_004085.3), TOR1A (NM_000113.2), TUBB4A (NM_006087.3), VAC14 (NM_018052.4), VPS13A (NM_033305.2), WDR45 (NM_007075.3)
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 Menselijke Erfelijkheid - KUL
RIZIV code:
565493-565504
Turnaround time (maximum):
9 months
Document(s):
Created:
15 Dec 2022 - 12:00
Changed:
16 Dec 2022 - 10:42
URL:
https://laboboeken.nexuzhealth.com/pboek/internet/GHB/15320
  • Dystonia (68 genes) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    PRKRA 93.20 0 NM_003690.4
    ARX 96.10 0 NM_139058.2
    CACNA1B 97.90 0 NM_000718.3
    KMT2B 98.40 0 NM_014727.2
    ADCY5 98.60 0 NM_183357.2
    CIZ1 98.80 0 NM_012127.2
    TH 99.10 0 NM_199292.2
    SMPD1 99.30 0 NM_000543.4
    CP 99.50 0 NM_000096.3
    PRRT2 99.60 0 NM_145239.2
    SUCLG1 99.60 0 NM_003849.3
    PLA2G6 99.70 0 NM_003560.3
    TBCD 99.70 0 NM_005993.4
    ANO3 99.70 0 NM_031418.3
    TOR1A 99.70 0 NM_000113.2
    GCDH 99.90 0 NM_000159.3
    NPC1 99.90 0 NM_000271.4
    FA2H 99.90 0 NM_024306.4
    TAF1 99.90 0 NM_004606.4
    SPR 99.90 0 NM_003124.4
    PTS 100.00 0 NM_000317.2
    DCAF17 100.00 0 NM_025000.3
    ATP7B 100.00 0 NM_000053.3
    SLC39A14 100.00 0 NM_015359.5
    C19ORF12 100.00 0 NM_001031726.3
    RELN 100.00 0 NM_005045.3
    ATM 100.00 0 NM_000051.3
    CACNA1A 100.00 0 NM_002143.2
    CYP27A1 100.00 0 NM_000784.3
    KCTD17 100.00 0 NM_001282684.1
    NKX2-1 100.00 0 NM_001079668.2
    PANK2 100.00 0 NM_153638.3
    VPS13A 100.00 0 NM_033305.2
    COL6A3 100.00 0 NM_004369.3
    ACTB 100.00 0 NM_001101.4
    ARSA 100.00 0 NM_000487.5
    ATP1A3 100.00 0 NM_152296.5
    AUH 100.00 0 NM_001698.2
    BCAP31 100.00 0 NM_001139441.1
    COASY 100.00 0 NM_025233.6
    DDC 100.00 0 NM_000790.3
    DRD2 100.00 0 NM_000795.3
    FTL 100.00 0 NM_000146.3
    GCH1 100.00 0 NM_000161.2
    GLB1 100.00 0 NM_000404.3
    GNAL 100.00 0 NM_001142339.2
    GNAO1 100.00 0 NM_020988.2
    GNB1 100.00 0 NM_002074.4
    HEXA 100.00 0 NM_000520.5
    HEXB 100.00 0 NM_000521.3
    HPRT1 100.00 0 NM_000194.2
    KCNMA1 100.00 0 NM_002247.3
    MECR 100.00 0 NM_016011.4
    MR1 100.00 0 NM_001194999.1
    NPC2 100.00 0 NM_006432.3
    PNKD 100.00 0 NM_015488.4
    SERAC1 100.00 0 NM_032861.3
    SGCE 100.00 0 NM_003919.2
    SLC18A2 100.00 0 NM_003054.4
    SLC19A3 100.00 0 NM_025243.3
    SLC2A1 100.00 0 NM_006516.2
    SLC30A10 100.00 0 NM_018713.2
    SLC6A3 100.00 0 NM_001044.4
    THAP1 100.00 0 NM_018105.2
    TIMM8A 100.00 0 NM_004085.3
    TUBB4A 100.00 0 NM_006087.3
    VAC14 100.00 0 NM_018052.4
    WDR45 100.00 0 NM_007075.3