Diagnostic RET genetic testing in 1,058 index patients: A UK centre perspective.

Jonathan Mark FusseyJoel Anthony SmithRuth CleaverChristopher BowlesSian EllardBijay VaidyaMartina Owens

Published in: Clinical endocrinology (2021)

Although the detection rate of RET germline pathogenic variants in patients with presumed sporadic MTC was significant, the overall detection rate in those with MTC was lower than expected in this series. Advances in RET analysis in response to reports of new variants over the last two decades are likely to have improved the pick-up rate in recent years.

Keyphrases

end stage renal disease
copy number
ejection fraction
newly diagnosed
loop mediated isothermal amplification
chronic kidney disease
real time pcr
label free
late onset
prognostic factors
dna damage
oxidative stress
quantum dots
early onset
sensitive detection
adverse drug