1. Genetic tests
  2. Child Interstitial Lung Disease (child - gene panel)

Child Interstitial Lung Disease (child - gene panel)

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Full name:
Child Interstitial Lung Disease (child - 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:
15 Dec 2020 - 12:10
Changed:
16 Feb 2022 - 08:05
URL:
https://laboboeken.nexuzhealth.com/pboek/internet/GHB%20CME/14321
  • chILD (34 genes) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABCA3 95.00 0 NM_001089.3 / interpretable range CS1>95%
    AP3B1 95.00 0 NM_003664.5/ interpretable range CS1>95%
    AP3D1 95.00 0 NM_001261826.3/ interpretable range CS1>95%
    BLOC1S3 95.00 0 NM_212550.5/ interpretable range CS1>95%
    BLOC1S5 95.00 0 NM_201280.3/ interpretable range CS1>95%
    BLOC1S6 95.00 0 NM_012388.4/ interpretable range CS1>95%
    COPA 95.00 0 NM_004371.4/ interpretable range CS1>95%
    CSF2RA 95.00 0 NM_006140.6/ interpretable range CS1>95%
    CSF2RB 95.00 0 NM_000395.3/ interpretable range CS1>95%
    DTNBP1 95.00 0 NM_032122.5/ interpretable range CS1>95%
    FLNA 95.00 0 NM_001456.4/ interpretable range CS1>95%
    FOXF1 95.00 0 NM_001451.3/ interpretable range CS1>95%
    GATA2 95.00 0 NM_032638.5/ interpretable range CS1>95%
    HPS1 95.00 0 NM_000195.5/ interpretable range CS1>95%
    HPS3 95.00 0 NM_022081.6/ interpretable range CS1>95%
    HPS5 95.00 0 NM_181507.2/ interpretable range CS1>95%
    HPS6 95.00 0 NM_024747.6/ interpretable range CS1>95%
    MARS1 95.00 0 NM_004990.4/ interpretable range CS1>95%
    NKX2-1 95.00 0 NM_001079668.3/ interpretable range CS1>95%
    SFTPA1 95.00 0 NM_005411.5/ interpretable range CS1>95%
    SFTPA2 95.00 0 NM_001098668.4/ interpretable range CS1>95%
    SFTPB 95.00 0 NM_198843.3/ interpretable range CS1>95%
    SFTPC 95.00 0 NM_003018.4/ interpretable range CS1>95%
    STING1 95.00 0 NM_198282.4/ interpretable range CS1>95%
    TBX4 95.00 0 NM_018488.3/ interpretable range CS1>95%
    TERC 95.00 0 NR_001566.1/ interpretable range CS1>95%
    TERT 95.00 0 NM_198253.3/ interpretable range CS1>95%
    HPS4 95.00 0 NM_022081.6/ interpretable range CS1>95%
    MUC5B 95.00 0 NM_002458.3/ interpretable range CS1>95%
    PARN 95.00 0 NM_002582.4/ interpretable range CS1>95%
    RTEL1 95.00 0 NM_032957.5/ interpretable range CS1>95%
    SLC34A2 95.00 0 NM_006424.3/ interpretable range CS1>95%
    SLC7A7 95.00 0 NM_001126106.4/ interpretable range CS1>95%
    RAB5B 95.00 0 NM_002868.4/ interpretable range CS1>95%