PTEN hamartoma tumor syndrome
OMIM
601728
Gensymbole
PTEN
Material
EDTA-Blut: 1-2 ml
Methode
Stufendiagnostik:
- Sequenzierung aller 9 Exons
- MLPA
Indication
V.a. Cowden-Syndrom, Proteus-Syndrom / Proteus-like-Syndrom, Bannayan-Riley-Ruvalcaba-Syndrom (BRRS)