Ectodermal Dysplasia-16 (WNT10A) Targeted Testing

AKA: Odontoonychodermal Dysplasia
Short Name: WNT10A Targeted

Ectodermal dysplasia-16 is an autosomal recessive disorder caused by a pathogenic variant in the WNT10A gene. It is characterized by dry hair, severe hypodontia (missing teeth), smooth tongue with reduction of fungiform and filiform papillae, onychodysplasia, hyperkeratosis of palms and soles, hypohidrosis and hyperhidrosis of the skin, and atrophic patches on the face. The targeted test was developed to specifically analyze the c.283G>A (p.Glu95Lys) variant in the WNT10A gene identified in the Amish population.

CPT Code: 81403
Turn-Around Time: 1-2 weeks
OMIM: 257980
MedGen: 208666