Figure 2.
A flowchart illustrating the diagnostic testing algorithm for Chronic Granulomatous Disease (C G D) and Inborn Errors of Immunity (I E I). The process begins with D H R testing. If the D H R result is abnormal, a presumptive diagnosis of C G D is made. Prophylactic therapy is initiated, and C G D panel gene testing is performed. If the C G D gene testing is negative, dedicated N C F 1 sequencing is considered. If the C G D gene testing is positive, consideration of definitive therapies is recommended. If the D H R result is normal but there is a high suspicion of I E I, I E I panel gene testing is conducted. If the I E I gene testing is positive, family screening is considered. If the I E I gene testing is negative, W E S slash W G S testing is considered. If there is no high suspicion of I E I, alternate diagnoses are considered.
Diagnostic testing algorithm. *NCF1 is often not included in many gene panel tests. WES: whole exome sequencing, WGS: whole genome sequencing.