Paraganglioma and pheochromocytoma: gene panel
Speciality(ies) / Other Speciality(ies)
Oncology
Methodology
NGS, with CNVs analysis
SNS Code
34900
OMIM
–
Gene Number
18
Test / Mutation List
EGLN1, EPAS1, FH, IDH1, KIF1B, MAX, MDH2, MEN1, NF1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, SLC25A11, TMEM127, VHL
TAT
2 to 3 months
Sample Type
Peripheral blood in EDTA tube (3 to 6mL); stable for 48h at room temperature (RT) or 72h refrigerated
or
DNA (>5μg with concentration >20ng/μL); stable for 48h at room temperature (RT) or >48h refrigerated
–
For other samples types, please contact the laboratory.