Do you recommend routine genetic screening (i.e., periodic fever panel) in a pediatric patient where you strongly suspect a periodic fever syndrome?
Answer from: at Academic Institution
Genetic testing for periodic fever syndromes is potentially very informative and rather inexpensive. My approach is to generally obtain genetic testing in patients with suspected periodic fever syndromes as part of their initial laboratory evaluation with the exception of typical cases of PFAPA (Per...
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at Duke University Medical Center Dr. @Kalampokis, what is your preferred autoinflam...
In my region (the southern Appalachias), we have identified a sizeable population of people who have a disorder that is quite similar to FMF; four of our patients had the genetic markers that have been identified with FMF. Dr. Kastner told me that while they do have the markers, their medical histor...
Dr. @Kalampokis, what is your preferred autoinflam...