En 1 clic
Phéochromocytome paragangliome héréditaire
| Anomalies recherchées | Technique | Laboratoires de la plateforme réalisant l’analyse |
| RET (REarranged during Transfection proto-oncogen) Néoplasie Endocrinienne Multiple de type 2 NEM2 | NGS et MLPA |
Plateforme GeneOnE : Génétique Oncologique et Endocrinienne - Pr A. BARLIER Laboratoire de Biologie moléculaire, Pr Alain ENJALBERT |
| VHL (Von Hippel Lindau) | NGS et MLPA | |
| SDHA (Succinate DeHydrogenase complex flavoprotein subunit A) | NGS et MLPA | |
| SDHAF2/SDH5 (Succinate DeHydrogenase complex Assembly Factor 2) | NGS et MLPA | |
| SDHB (Succinate DeHydrogenase complex flavoprotein subunit B) | NGS et MLPA | |
| SDHC (Succinate DeHydrogenase complex flavoprotein subunit C) | NGS et MLPA | |
| SDHD (Succinate DeHydrogenase complex flavoprotein subunit D) | NGS et MLPA | |
| TMEM127 (gène codant pour la TransMEMbrane protein 127) | NGS | |
| MAX (MYC associated factor X) | NGS | |
| NF1 (Neurofibromin 1) Neurofibromatose de type 1 | NGS | |
| HIF2A (Hypoxia-Inducible Factor-2alpha, protéine EPAS1 Endothelial PAS domain protein 1) | NGS | |
| FH (Fumarate Hydratase) | NGS | |
| MDH2 (Malate DesHydrogenase 2) | NGS |