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Dystonia (gene panel)

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Full name:
Dystonia (gene panel)
Description:

Single case analyse: Dystonie panel versie 6-SC-2022 (86 genen) ACTB (NM_001101.5), ADCY5 (NM_183357.3), ANO3 (NM_031418.4), AOPEP (NM_001193329.3), ARSA (NM_000487.6), ARX (NM_139058.3), ATM (NM_000051.4), ATN1 (NM_001007026.2), ATP1A3 (NM_152296.5), ATP7B (NM_000053.4), AUH (NM_001698.3), BCAP31 (NM_001139441.1), C19orf12 (NM_001031726.4), CACNA1A (NM_001127221.2), CACNA1B (NM_000718.4), CIZ1 (NM_012127.3), CLN3 (NM_001042432.2), COASY (NM_025233.7), COQ8A (NM_020247.5), COL6A3 (NM_004369.4), CP (NM_000096.4), CYP27A1 (NM_000784.4), DCAF17 (NM_025000.4), DDC (NM_000790.4), DRD2 (NM_000795.4), EIF2AK2 (NM_001135651.3), FA2H (NM_024306.5), FTL (NM_000146.4), GCDH (NM_000159.4), GCH1 (NM_000161.3), GLB1 (NM_000404.4), GM2A (NM_000405.5), GNAL (NM_001142339.3), GNAO1 (NM_020988.3), GNB1 (NM_002074.5), HEXA (NM_000520.6), HEXB (NM_000521.4), HPCA (NM_002143.3), HPRT1 (NM_000194.3), KCNA1 (NM_000217.3), KCNMA1 (NM_002247.4), KCTD17 (NM_001282684.2), KMT2B (NM_014727.3), MECR (NM_016011.5), MMUT (NM_000255.4), MR1 (NM_001194999.2), NKX2-1 (NM_001079668.3), NPC1 (NM_000271.5), NPC2 (NM_006432.5), NR4A2 (NM_006186.4), PANK2 (NM_153638.4), PLA2G6 (NM_003560.4), PNKD (NM_015488.5), PPP2R5D (NM_006245.4), PRKRA (NM_003690.5), PRRT2 (NM_145239.3), PTS (NM_000317.3), RELN (NM_005045.4), RHOBTB2 (NM_001160036.2), SCN8A (NM_014191.4), SERAC1 (NM_032861.4), SGCE (NM_003919.3), SLC18A2 (NM_003054.6), SLC19A3 (NM_025243.4), SLC20A2 (NM_006749.5), SLC2A1 (NM_006516.4), SLC30A10 (NM_018713.3), SLC39A14 (NM_015359.6), SLC6A19 (NM_001003841.3), SLC6A3 (NM_001044.5), SMPD1 (NM_000543.5), SPR (NM_003124.5), SUCLG1 (NM_003849.4), TAF1 (NM_004606.5), TBCD (NM_005993.5), TH (NM_199292.3), THAP1 (NM_018105.3), TIMM8A (NM_004085.4), TOR1A (NM_000113.3), TUBB4A (NM_006087.4), VAC14 (NM_018052.5), VPS13A (NM_033305.3), VPS16 (NM_022575.4), VPS41 (NM_014396.4), WARS2 (NM_015836.4), WDR45 (NM_007075.4).
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
Accreditation (ISO 15189):
2021-07-08 / 2026-02-02
Turnaround time (maximum):
9 months
Document(s):
Created:
15 Dec 2022 - 12:00
Changed:
16 Apr 2024 - 14:39
URL:
https://laboboeken.nexuzhealth.com/pboek/internet/GHB/15320
  • Dystonia (86 genes) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ARX 93.36 0 NM_139058.3
    CACNA1B 98.50 0 NM_000718.4
    KMT2B 98.89 0 NM_014727.3
    ADCY5 99.21 0 NM_183357.3
    TBCD 99.45 0 NM_005993.5
    SMPD1 99.65 0 NM_000543.5
    FA2H 99.79 0 NM_024306.5
    SUCLG1 99.81 0 NM_003849.4
    PRKRA 99.85 0 NM_003690.5
    ATN1 99.86 0 NM_001007026.2
    AOPEP 99.89 0 NM_001193329.3
    TH 99.91 0 NM_199292.3
    VAC14 99.91 0 NM_018052.5
    TAF1 99.92 0 NM_004606.5
    CIZ1 99.92 0 NM_012127.3
    NKX2-1 99.92 0 NM_001079668.3
    PANK2 99.95 0 NM_153638.4
    TOR1A 99.95 0 NM_000113.3
    ATM 99.95 0 NM_000051.4
    VPS16 99.96 0 NM_022575.4
    GCDH 99.96 0 NM_000159.4
    MECR 99.97 0 NM_016011.5
    NPC1 99.97 0 NM_000271.5
    KCNMA1 99.97 0 NM_002247.4
    SCN8A 99.97 0 NM_014191.4
    PLA2G6 99.97 0 NM_003560.4
    ANO3 99.98 0 NM_031418.4
    HPRT1 99.98 0 NM_000194.3
    RELN 99.98 0 NM_005045.4
    SPR 99.98 0 NM_003124.5
    GM2A 99.98 0 NM_000405.5
    ACTB 99.98 0 NM_001101.5
    SLC20A2 99.98 0 NM_006749.5
    CP 99.98 0 NM_000096.4
    EIF2AK2 99.98 0 NM_001135651.3
    GLB1 99.98 0 NM_000404.4
    WDR45 99.99 0 NM_007075.4
    VPS13A 99.99 0 NM_033305.3
    PNKD 99.99 0 NM_015488.5
    CLN3 99.99 0 NM_001042432.2
    SLC2A1 99.99 0 NM_006516.4
    CACNA1A 99.99 0 NM_001127221.2
    FTL 99.99 0 NM_000146.4
    HPCA 99.99 0 NM_002143.3
    SLC18A2 99.99 0 NM_003054.6
    PRRT2 99.99 0 NM_145239.3
    DCAF17 99.99 0 NM_025000.4
    MMUT 99.99 0 NM_000255.4
    GNB1 99.99 0 NM_002074.5
    COL6A3 99.99 0 NM_004369.4
    PTS 99.99 0 NM_000317.3
    NR4A2 99.99 0 NM_006186.4
    HEXB 99.99 0 NM_000521.4
    SLC6A3 99.99 0 NM_001044.5
    SLC30A10 99.99 0 NM_018713.3
    GNAL 99.99 0 NM_001142339.3
    GCH1 100.00 0 NM_000161.3
    BCAP31 100.00 0 NM_001139441.1
    SLC6A19 100.00 0 NM_001003841.3
    VPS41 100.00 0 NM_014396.4
    COQ8A 100.00 0 NM_020247.5
    KCTD17 100.00 0 NM_001282684.2
    ATP1A3 100.00 0 NM_152296.5
    RHOBTB2 100.00 0 NM_001160036.2
    GNAO1 100.00 0 NM_020988.3
    ATP7B 100.00 0 NM_000053.4
    SLC39A14 100.00 0 NM_015359.6
    PPP2R5D 100.00 0 NM_006245.4
    ARSA 100.00 0 NM_000487.6
    AUH 100.00 0 NM_001698.3
    C19ORF12 100.00 0 NM_001031726.4
    COASY 100.00 0 NM_025233.7
    CYP27A1 100.00 0 NM_000784.4
    DDC 100.00 0 NM_000790.4
    DRD2 100.00 0 NM_000795.4
    HEXA 100.00 0 NM_000520.6
    KCNA1 100.00 0 NM_000217.3
    MR1 100.00 0 NM_001194999.2
    NPC2 100.00 0 NM_006432.5
    SERAC1 100.00 0 NM_032861.4
    SGCE 100.00 0 NM_003919.3
    SLC19A3 100.00 0 NM_025243.4
    THAP1 100.00 0 NM_018105.3
    TIMM8A 100.00 0 NM_004085.4
    TUBB4A 100.00 0 NM_006087.4
    WARS2 100.00 0 NM_015836.4