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  2. Bronchiectasies with or without elevated sweat chloride panel (5 genes)

Bronchiectasies with or without elevated sweat chloride panel (5 genes)

Genetic test Export to PDF
Full name:
Bronchiectasies with or without elevated sweat chloride panel (5 genes)
Test type:
Clinical
Test specialty:
Molecular Genetics
Test purpose:
Post-natal Diagnosis
Specimen:
Peripheral (whole) blood on EDTA,
DNA
Method category:
Sequence analysis: entire coding region
Deletion/duplication analysis
Method technique:
Next Generation Sequencing (NGS)
Bi-directional Sanger Sequence analysis
Laboratory:
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
RIZIV code:
565471-565482
Accreditation (ISO 15189):
2022-10-07 / 2027-10-06
Turnaround time (maximum):
2-6 months
Document(s):
Created:
26 Jul 2019 - 08:52
Changed:
04 Dec 2023 - 10:01
  • Pulmonary/Bronchiectasies (5 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    CFTR 100.00 1 NM_000492.4
    SCNN1A 100.00 1 NM_001038.6
    SCNN1B 100.00 1 NM_000336.3
    SCNN1G 100.00 1 NM_001039.4
    SERPINA1 100.00 1 NM_000295.5