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Multiple endocrine neoplasia (3 genes)

Genetic test Export to PDF
Full name:
Multiple endocrine neoplasia (3 genes)
Description:

Part of the Onco-endocrine pathologies panel (Panel OE)
Test type:
Clinical
Test specialty:
Molecular Genetics
Test purpose:
Carrier diagnosis,
Post-natal Diagnosis,
Prenatal diagnosis
Specimen:
Peripheral (whole) blood on EDTA,
Chorionic villi,
Amniotic fluid
Method category:
Sequence analysis: entire coding region
Deletion/duplication analysis
Method technique:
Next Generation Sequencing (NGS)
Laboratory:
Centre de Génétique Médicale UCL
RIZIV code:
565530-565541
EQA:
  • 2020 Multiple Endocrine Neoplasia Type 2 EMQN
  • 2021 Familial endocrine tumour predisposition disorders GenQA (Genomics Quality Assessment)
  • 2023 Multiple Endocrine Neoplasia Type 2 EMQN
Accreditation (ISO 15189):
2022-12-22 / 2027-12-21
Turnaround time (maximum):
3 months
Created:
07 Nov 2019 - 17:58
Changed:
19 Jan 2024 - 13:00
  • Multiple endocrine neoplasia (3 genes) - UCL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    CDKN1B 100.00 1 Part of Custom Onco-endocrino panel
    MEN1 100.00 1 Custom Onco-endocrino panel
    RET 100.00 1 Custom Onco-endocrino panel