Genetic Skin Disorders: 18 New Gene Panels


Genetic testing in the field of dermatology is becoming increasingly advantageous. Testing for albinism is an excellent example of using genetic testing in dermatology. Genetic testing makes it possible to differentiate isolated ocular/oculocutaneous albinism from syndromic albinism, which is present in many disorders such as Hermansky- Pudlak, Chediak-Higashi, Griscelli, and Waardenburg syndromes. Moreover, genetic diagnostics provides prognostic information about visual impairment caused by oculocutaneous albinism. It also predicts the outcome of syndromic albinism in Griscelli syndrome, where the type 1 syndrome is associated with severe neurological disease, and type 2 is associated with severe immunodeficiency.


In collaboration with your doctor, choose one of the 18 gene panels listed.

It is necessary to present a Medical Referral Each Panel shows a complete clinical report, genetic counseling, analysis based on ACMG protocols, reanalysis.

Response Time 30 calendar days.

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