Targeted next generation sequencing for the diagnosis of patients with rare congenital anemias.
Noa Shefer AverbuchOrna Steinberg-ShemerOrly DganyTanya KrasnovSharon Noy-LotanJoanne YacobovichAmir A KupermanAntonios KattamisAyelet Ben BarakBatia Roth-JelinekEvgeni ChubarEvelyn ShabadGustavo DufortMartin EllisOfir WolachIdit PazgalAbed Abu QuiderHagit MiskinHannah TamaryPublished in: European journal of haematology (2018)
Targeted next-generation sequencing led to an accurate diagnosis in over 60% of patients with rare anemias. These patients do not need further diagnostic workup. Earlier incorporation of this method into the workup of patients with congenital anemia may improve patients' care and enable genetic counseling.