What further genetic testing would you perform on a pediatric patient with cyclic neutropenia who is negative for the most common associated mutations?

Topics: Pediatric Oncology • Hematology

With a strong family history

Answer from: at Community Practice

Virtually all autosomal dominant cyclic neutropenia is due to mutation in the ELANE gene. However, all neutropenia that varies over time is not necessarily hereditary cyclic neutropenia, even though the family history suggests so. It would be helpful to know if the family history follows an AD inher...

Comments

at Kaiser Permanente, Los Angeles Med Center
Thank you so much for your thoughtful response, Dr...

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