Table 6.

Procedures used to establish the diagnosis of ectodermal dysplasia.

Procedure	Source	Comments	Definitive diagnosis
Clinical findings	History Inspection	Clinical findings can be very suggestive of ED and is currently sufficient to yield final diagnosis	Yes, with significant structures and tissues affected, other differential diagnoses can be ruled out
Microscopic	Tissue biopsy Starch-Iodide test	The presence or absence of sweat glands in skin aids in diagnosis	No
Genetic Testing Single gene Targeted panel Exome sequencing Genome sequencing	Blood Saliva Buccal swab gDNA	Positive genetic testing can aid in diagnosis. Negative results do not rule out the disorder due to low sensitivity of tests. Variants of uncertain significance may pose challenges to the application of this procedure	No Current testing is not reliable enough to always confirm diagnosis