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Dyskeratosis Congenita (gene panel)

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Full name:
Dyskeratosis Congenita (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):
unknown
Document(s):
Created:
19 Jul 2019 - 09:51
Changed:
28 Jul 2023 - 14:42
URL:
https://laboboeken.nexuzhealth.com/pboek/internet/GHB%20CME/14372
  • Dyskeratosis Congenita (18 genes) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ACD 95.00 0 NM_001082486.1/ interpretable range CS1>95%
    CTC1 95.00 0 NM_025099.5/ interpretable range CS1>95%
    DKC1 95.00 0 NM_001363.4/ interpretable range CS1>95%
    GRHL2 95.00 0 NM_024915.3/ interpretable range CS1>95%
    LIG4 95.00 0 NM_002312.3/ interpretable range CS1>95%
    TNIP1 95.00 0 NM_138386.2/ interpretable range CS1>95%
    NHP2 95.00 0 NM_017838.3/ interpretable range CS1>95%
    NOP10 95.00 0 NM_018648.3/ interpretable range CS1>95%
    PARN 95.00 0 NM_002582.3/ interpretable range CS1>95%
    POT1 95.00 0 NM_015450.2/ interpretable range CS1>95%
    RTEL1 95.00 0 NM_032957.4/ interpretable range CS1>95%
    STN1 95.00 0 NM_024928.4/ interpretable range CS1>95%
    TERC 95.00 0 NR_001566.1/ interpretable range CS1>95%
    TERT 95.00 0 NM_198253.2/ interpretable range CS1>90%
    TINF2 95.00 0 NM_001099274.1/ interpretable range CS1>95%
    USB1 95.00 0 NM_024598.3/ interpretable range CS1>95%
    WRAP53 95.00 0 NM_018081.2/ interpretable range CS1>95%
    NAF1 95.00 0 NM_138386.3/ interpretable range CS1>95%