Figure 2.

Figure 2.

Algorithm to determine when and what type of PHOX2B genetic testing should be performed in the parents of a proband with CCHS

NPARMs = non-polyalanine repeat expansion mutations; PARMs = polyalanine repeat expansion mutations

* The PHOX2B sequencing test will not identify low-level mosaicism [Jennings et al 2010]

Weese-Mayer et al [2012]; used by permission of Elsevier

From: Congenital Central Hypoventilation Syndrome

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