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  2. Cardiomyopathy, hypertrophic

Cardiomyopathy, hypertrophic

Genetic test Export to PDF
Full name:
Cardiomyopathy, hypertrophic
Test type:
Clinical
Test specialty:
Molecular Genetics
Test purpose:
Mutation confirmation,
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)
Laboratory:
Centrum Medische Genetica - UZ Gent
RIZIV code:
565471-565482
EQA:
  • 2019 Hypertrophic cardiomyopathies EMQN
  • 2021 cardiac disorders GenQA (Genomics Quality Assessment)
Accreditation (ISO 15189):
2021-09-11 / 2026-09-10
Turnaround time (maximum):
3 - 4 months
Document(s):
Created:
29 Jul 2019 - 11:41
Changed:
31 Jan 2023 - 13:32
URL:
https://www.cmgg.be/nl/zorgverlener/labguide/constitutioneel-genetische-aandoen…
  • Hypertrophic cardiomyopathy - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    MYBPC3 100.00 1
    MYH7 100.00 1
    TNNT2 100.00 1
    ACTC1 100.00 1
    PRKAG2 100.00 1
    CSRP3 100.00 1
    JPH2 100.00 1
    MYL2 100.00 1
    MYL3 100.00 1
    TNNC1 100.00 1
    TNNI3 100.00 1
    TPM1 100.00 1