Pituitary adenoma (4 genes) - ULG
Full name: |
Pituitary adenoma (4 genes) - ULG
|
Abbreviation: |
PITUIT panel
|
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) |
Quality coverage: |
Sanger sequencing
|
Laboratory: | |
Created: |
12 Jul 2019 - 11:39
|
Changed: |
13 Dec 2021 - 15:47
|
Gene | % of coding sequence sufficiently covered to detect heterozygous mutations | Copy number variation | Comments |
---|---|---|---|
AIP | 100.00 | 1 | Coding exons and intronic borders +-14bp (Sanger sequencing) |
CDKN1B | 100.00 | 1 | Coding exons and intronic borders +-14bp (Sanger sequencing) |
MEN1 | 100.00 | 1 | Coding exons and intronic borders +-14bp (Sanger sequencing) |
PRKAR1A | 100.00 | 0 | Coding exons and intronic borders +-14bp (Sanger sequencing) |