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Pituitary adenoma (4 genes)

Genetic test Export to PDF
Full name:
Pituitary adenoma (4 genes)
Description:

Genetic predisposition to pituitary adenoma.

Investigation of:

- coding sequence of AIP, MEN1, CDN1B, PRKAR1A

- deletion or duplication in AIP, MEN1 and CDKN1B using Multiplex ligation-dépendent probe amplification (MLPA P244-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
Turnaround time (maximum):
3 months
Document(s):
Created:
02 Sep 2019 - 10:48
Changed:
11 Dec 2023 - 15:59
URL:
https://www.chu.ulg.ac.be/jcms/c2_23256324/fr/predisposition-genetique-aux-aden…
  • Pituitary adenoma (4 genes) - ULG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    MEN1 100.00 1 Coding exons and intronic borders +-14bp (Sanger sequencing)
    AIP 100.00 1 Coding exons and intronic borders +-14bp (Sanger sequencing)
    CDKN1B 100.00 1 Coding exons and intronic borders +-14bp (Sanger sequencing)
    PRKAR1A 100.00 0 Coding exons and intronic borders +-14bp (Sanger sequencing)