Universal Germline Panel Testing for Individuals With Pheochromocytoma and Paraganglioma Produces High Diagnostic Yield.

Carolyn HortonHolly LaDucaAshley DeckmanKate DurdaMichelle JacksonMarcy E RichardsonYuan TianAmal YussufKory JaspersonTobias Else

Published in: The Journal of clinical endocrinology and metabolism (2022)

Our data demonstrate a high diagnostic yield in individuals with and without established risk factors, a low inconclusive result rate, and a substantial contribution to diagnostic yield from rare genes. These findings support universal testing of all individuals with PPGL and the use of concurrent MGPT as the ideal platform.

Keyphrases

risk factors
dna repair
high throughput
electronic health record
genome wide
gene expression
dna damage
locally advanced
transcription factor
data analysis
single cell