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Paraganglioma-pheochromocytoma (6 genes) - ULG

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Full name:
Paraganglioma-pheochromocytoma (6 genes) - ULG
Description:

Genetic predisposition to paraganglioma and pheochromocytoma.

Investigation of:

- coding sequence of SDHA,SDHB,SDHC,SDHD, VHL and RET (partial) genes

- deletion or duplication in SDHA,SDHB,SDHC,SDHD, VHL genes using Multiplex ligation-dépendent probe amplification (MLPA P226-P429-P016, MRC Holland)
Test type:
Clinical
Test specialty:
Molecular Genetics
Test purpose:
Carrier diagnosis,
Post-natal Diagnosis,
Predictive and Pre-symptomatic diagnosis
Specimen:
Peripheral (whole) blood on EDTA
Method category:
Sequence analysis: entire coding region
Deletion/duplication analysis
Method technique:
MLPA based techniques
Next Generation Sequencing (NGS)
Laboratory:
Centre de Génétique Humaine - CHU Sart-Tilman
RIZIV code:
565530-565541
EQA:
  • 2019 Phaeochromocytoma and Paraganglioma Disorders EMQN
  • 2022 Familial endocrine tumour predisposition disorders GenQA (Genomics Quality Assessment)
  • 2023 Familial endocrine tumour predisposition disorders GenQA (Genomics Quality Assessment)
Turnaround time (maximum):
3 months
Document(s):
Created:
22 Jul 2019 - 14:27
Changed:
16 Jan 2024 - 14:45
URL:
https://www.chu.ulg.ac.be/jcms/c2_23256263/fr/predisposition-genetique-aux-pheo…
  • Paraganglioma-pheochromocytoma (6 genes) - ULG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    SDHA 100.00 1 Coding exons and intronic borders +-14bp (Sanger sequencing)
    SDHB 100.00 1 Coding exons and intronic borders +-14bp (Sanger sequencing)
    SDHC 100.00 1 Coding exons and intronic borders +-14bp (Sanger sequencing)
    SDHD 100.00 1 Coding exons and intronic borders +-14bp (Sanger sequencing)
    RET 30.28 0 Coding exons and intronic borders +-14bp (Sanger sequencing)
    VHL 100.00 1 Coding exons and intronic borders +-14bp (Sanger sequencing)