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Hypercholesterolemia (9 genes)

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Genetic test Export to PDF
Full name:
Hypercholesterolemia (9 genes)
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
Deletion/duplication analysis
Method technique:
Next Generation Sequencing (NGS)
Bi-directional Sanger Sequence analysis
Laboratory:
Centre de Génétique Médicale UCL
RIZIV code:
565471-565482
EQA:
  • 2015 Familial autosomal dominant hypercholesterolemia EMQN
  • 2016 Familial autosomal dominant hypercholesterolemia EMQN
  • 2017 Familial autosomal dominant hypercholesterolemia EMQN
  • 2018 Familial autosomal dominant hypercholesterolemia EMQN
  • 2019 Familial autosomal dominant hypercholesterolemia EMQN
  • 2020 Familial autosomal dominant hypercholesterolemia EMQN
  • 2023 Familial autosomal dominant hypercholesterolemia EMQN
Accreditation (ISO 15189):
2022-12-22 / 2027-12-21
Turnaround time (maximum):
3 months
Document(s):
Created:
25 Jul 2019 - 07:30
Changed:
19 Jan 2024 - 12:15
  • Hypercholesterolemia (9 genes) - UCL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    LDLR 100.00 1
    APOB 100.00 1
    PCSK9 100.00 1
    ABCG5 100.00 1
    ABCG8 100.00 1
    APOE 100.00 1
    LDLRAP1 100.00 1
    LIPA 100.00 1
    STAP1 100.00 1