Our panels include over 3,000 genes selected based on curated gene reviews, variant databases (HGMD and ClinVar), most recent literature, and customer requests. We offer enhanced clinical utility, maximized diagnostic yield, empowered differential diagnosis as well as analytically validated up-to-date genes across all our panels. Difficult-to-sequence genes are covered with high quality enabling true diagnostic impact in challenging patient cases.
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.
Genetic diagnostics is the most efficient way to subtype hereditary dermatological diseases. A diagnosis provides 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. Identifying family members at risk makes it possible to begin preventive treatments and/or make lifestyle recommendations. It also justifies routine follow-ups by healthcare professionals. Genetic diagnosis can also help in family planning.
Ordering a test from us is quick and simple. You can order online using our secure portal, Nucleus, or send us a requisition form by mail.
In this educational webinar, we will review commonly encountered presentations that raise concern for a possible diagnosis of a heritable disorder of connective tissue. Case examples will be presented to highlight genetic testing options and considerations.
Read moreIn this educational webinar, we present recent work in genetic cardiomyopathies, including new gene discoveries, which may provide patients with an answer for their diagnosis, better guide management strategies and define risks for family members.
Read moreDurante este seminario web educativo, la Dra. Raquel Pérez Carro, ofrecerá una visión general del proceso de análisis e interpretación del exoma. Desde el análisis de los datos hasta la interpretación de las variantes, se describirá cómo descifrar los datos genéticos del paciente para proporcionar información clínicamente relevante.
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