What is the role of genetic testing in the workup of pediatric chronic granulomatous disease (CGD)?

Updated: Aug 07, 2019
  • Author: Lawrence C Wolfe, MD; Chief Editor: Cameron K Tebbi, MD  more...
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Genetic testing

Specific gene mutation is useful to establish the genetic inheritance pattern and aid in family counseling. Although the family history is sometimes informative in cases of X-linked chronic granulomatous disease (X-CGD), the high incidence of new mutations and the appearance of male subjects with autosomal recessive mutations make some type of laboratory confirmation important.

The low incidence of chronic granulomatous disease and the large number of unique mutations preclude standardized genetic testing. Therefore, individual genetic analysis remains the domain of specialized research laboratories.

Mutations can currently be identified in nearly all patients and in about 90% of mothers of affected children.

Identification of the precise molecular defect in individual patients takes on added importance with the recent initiation of gene-therapy trials in chronic granulomatous disease.

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