PCD panel results....more testing



As we wait to see a new doctor at Riley Hosp, we got results from the PCD panel. This is what my message said: results show that she is heterozygous (has one change) for a variant of uncertain significance in the DNAH11 gene, which is a dynein gene.
The change found through testing is a variant of uncertain significance, which means that there is not enough evidence to know for certain if the change is benign or if it is associated with PCD. Because Claire has symptoms that are suggestive of PCD, we are somewhat suspicious that this variant could be significant, and we will request insurance authorization for deletion/duplication analysis of the DNAH11 gene since PCD is a recessive condition (in order to be affected a person must have two gene alterations).

So, does that mean she has 1 mutation and needs 1 more to be diagnosed with PCD?