1. Genetic tests
  2. Primary Ciliary Dyskinesia (gene panel)

Primary Ciliary Dyskinesia (gene panel)

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Genetic test Export to PDF
Full name:
Primary Ciliary Dyskinesia (gene panel)
Test type:
Clinical
Test specialty:
Molecular Genetics
Test purpose:
Post-natal Diagnosis
Specimen:
Peripheral (whole) blood on EDTA
Method category:
Sequence analysis: entire coding region
Method technique:
Next Generation Sequencing (NGS)
Laboratory:
Centrum Menselijke Erfelijkheid - KUL
RIZIV code:
565493-565504
Turnaround time (maximum):
4 - 6 months
Document(s):
Created:
23 Jul 2019 - 10:00
Changed:
23 Aug 2023 - 10:50
URL:
https://laboboeken.nexuzhealth.com/pboek/internet/GHB%20CME/14083
  • Primary Ciliary Dyskinesia (61 genes) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ODAD2 100.00 0 NM_018076.5
    CCDC103 100.00 0 NM_213607.3
    ODAD1 100.00 0 NM_144577.4
    ODAD3 100.00 0 NM_145045.5
    CCDC39 100.00 0 NM_181426.2
    CCDC40 100.00 0 NM_017950.4
    CCDC65 100.00 0 NM_033124.5
    CCNO 100.00 0 NM_021147.5
    CFAP251 100.00 0 NM_144668.6
    CFAP298 100.00 0 NM_021254.4
    CFAP300 100.00 0 NM_032930.3
    CFAP45 100.00 0 NM_012337.3
    CFAP53 100.00 0 NM_145020.5
    CFAP57 100.00 0 NM_152498.3
    CFAP74 100.00 0 NM_001304360.2
    DNAAF1 100.00 0 NM_178452.6
    DNAAF2 100.00 0 NM_018139.2
    DNAAF3 100.00 0 NM_001256714.1
    DNAAF4 100.00 0 NM_130810.4
    DNAAF5 100.00 0 NM_017802.4
    DNAAF6 100.00 0 NM_001169154.2
    DNAH11 100.00 0 NM_001277115.2
    DNAH17 100.00 0 NM_173628.4
    DNAH2 100.00 0 NM_020877.5
    DNAH5 100.00 0 NM_001369.3
    DNAH6 100.00 0 NM_001370.2
    DNAH8 100.00 0 NM_001206927.2
    DNAH9 100.00 0 NM_031427.4
    DNAI1 100.00 0 NM_012144.4
    DNAI2 100.00 0 NM_023036.5
    DNAJB13 100.00 0 NM_153614.4
    DRC1 100.00 0 NM_145038.5
    ENKUR 100.00 0 NM_145010.4
    FOXJ1 100.00 0 NM_001454.4
    GAS2L2 100.00 0 NM_139285.4
    GAS8 100.00 0 NM_001481.3
    HYDIN 100.00 0 NM_001270974.2
    LRRC56 100.00 0 NM_198075.4
    DNAAF11 100.00 0 NM_012472.6
    MCIDAS 100.00 0 NM_001190787.3
    MNS1 100.00 0 NM_018365.4
    NEK10 100.00 0 NM_199347.4
    NME5 100.00 0 NM_003551.3
    NME8 100.00 0 NM_016616.5
    OFD1 100.00 0 NM_003611.3
    RPGR 100.00 0 NM_000328.3
    RSPH1 100.00 0 NM_080860.4
    RSPH3 100.00 0 NM_031924.8
    RSPH4A 100.00 0 NM_001010892.3
    RSPH9 100.00 0 NM_152732.5
    SPAG1 100.00 0 NM_172218.3
    SPEF2 100.00 0 NM_024867.4
    STK36 100.00 0 NM_015690.5
    TEKT1 100.00 0 NM_053285.2
    TP73 100.00 0 NM_005427.4
    TTC12 100.00 0 NM_017868.4
    ODAD4 100.00 0 NM_031421.5
    ZMYND10 100.00 0 NM_015896.4
    CFAP221 100.00 -2
    DNAL1 100.00 -2 NM_031427.4
    DAW1 100.00 -2 NM_178821.3