Is ideal for patients presenting with palmoplantar keratoderma.Read more
DermatologyWe 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.
Genetic testing for dermatology
Our panels include over 2600 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.
What genetic diagnostics can offer patients with dermatological diseases
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.
A selection of our dermatology panels
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Published on June 15, 2017
There is a significant completion to drive down the price and TAT of genetic diagnostics. To survive in this competition, laboratories have to either rigorously innovate or then make compromises in quality and performace standards. In an untransparent diagnostic environment, health care professionals have a hard time to evaluate optimal and best testing for their patients.
Looking for transparency Dr. Tero-Pekka Alastalo discusses how sequencing technologies and the chosen strategy in a lab can define quality and yield, highlighting bioinformatics and interpretation as being the biggest challenges in the current market. He also discusses what can make a lab transparent in its services and what is…See more