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Genetic diagnostics is the most efficient way to subtype hereditary dermatological diseases, providing the necessary information to make confident individualized treatment and management decisions. Moreover, detection of the causative mutation establishes the mode of inheritance within the family, which is essential for well-informed genetic counseling.


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Genetic diagnostics for dermatological diseases

Genetic testing in the field of dermatology is becoming increasingly advantageous. A good example of using genetic testing in dermatology is testing for albinism. 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 in syndromic albinism in Griscelli syndrome, where the type 1 syndrome is associated with severe neurological disease, and type 2 is associated with severe immunodeficiency.

We offer comprehensive genetic diagnostics for hereditary skin diseases, including a variety of isolated and syndromic diseases with skin manifestations. These range from aplastic skin on the scalp in Adams-Oliver syndrome with terminal limb defects, hypoplastic or absent nails, congenital heart defects, microphthalmia, microcephaly, and CNS anomalies to severe, classic Hutchinson-Gilford progeria accompanied by accelerated aging.

Our diagnostic process

From sample to clinical interpretation

  1. Ordering and sample preparation

    After receiving a patient’s medical history and sample we start the sample preparations in our CLIA certified laboratory.

  2. Sequencing

    We sequence the DNA in our lab with our proprietary targeted sequencing method OS-Seq™, developed at Stanford.

  3. Data analysis and interpretation

    We use our own proprietary automated bioinformatics pipeline to produce clinically relevant information - fast and reliably.

  4. Clinical statement

    Our team of geneticists and clinicians produce a comprehensive clinical statement to support the diagnosis of your patient.

  1. Sample
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  2. Sequencing
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  3. Analysis
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  4. Report
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