Comprehensive genetic tests and state-of-the-art research enables best-in-class diagnostics for suspected skin diseases. With severity and underlying effects of dermatological diseases being extremely wide-ranging and highly variable, many different genes are involved. By pinpointing the exact disease-causing variants through our comprehensive genetic testing options, you can provide your patients with precise medical prognosis.
Articles on Dermatology
Hyaline fibromatosis syndrome (HFS) is rare autosomal recessive disease characterized by the deposition of amorphous hyaline material in skin and visceral organs. The goal of this study is to identify and validate a new biochemical marker from the plasma of affected patients helping to benefit other…
A Novel SOX18 Mutation Uncovered in Jordanian Patient with Hypotrichosis-Lymphedema-Telangiectasia Syndrome by Whole Exome Sequencing
The SOX18 gene encodes a transcription factor that plays a notable role in certain developmental contexts such as lymphangiogenesis, hair follicle development and vasculogenesis. SOX18 mutations are linked to recessive and dominant hypotrichosis-lymphedema-telangiectasia syndrome (HLTS). In this…
Focal dermal hypoplasia is an unusual genetic disease that affects ectodermal and mesodermal derivatives. This is the case of an eight year old female from Colombia with multiple congenital malformations.
LYSO-PROOF – Determine the Prognostic Value of Lyso-Gb1 for Monitoring the Progress of Gaucher Disease
Gaucher disease is an autosomal recessive inherited lysosomal storage disorder. The disease is caused by the hereditary deficiency of the glucocerebrosidase, a lysosomal enzyme that breaks down glucocerebroside into glucose and ceramide. Gaucher disease is the most common sphingolipidosis and it is…