Belgian Genetic Tests database
Paraganglioma-pheochromocytoma (6 genes) - ULG
| Full name: |
Paraganglioma-pheochromocytoma (6 genes) - ULG
|
| Abbreviation: |
PHEO panel
|
| 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) |
| Quality coverage: |
Sanger sequencing
|
| Laboratory: | |
| Created: |
12 Jul 2019 - 11:34
|
| Changed: |
13 Dec 2021 - 15:29
|
| Gene | % of coding sequence sufficiently covered to detect heterozygous mutations | Copy number variation | Comments |
|---|---|---|---|
| RET | 30.28 | 0 | Coding exons and intronic borders +-14bp (Sanger sequencing) |
| 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) |
| VHL | 100.00 | 1 | Coding exons and intronic borders +-14bp (Sanger sequencing) |