The Blueprint Genetics Progeria and Progeroid Syndromes Panel is a 16 gene test for genetic diagnostics of patients with clinical suspicion of Cockayne syndrome, congenital generalized lipodystrophy, cutis laxa or Hutchinson-Gilford progeria syndrome.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
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
The Blueprint Genetics Hereditary Acrodermatitis Enteropathica Panel is a one gene test for genetic diagnostics of patients with clinical suspicion of acrodermatitis enteropathica.Read more
Find the right test for your patient
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.
[WHITE PAPER] Validation of clinical testing – Setting a new standard for clinical testing through fully transparent validation. Comprehensive analytic validation is a critical step in transparent genetic diagnostics. It demonstrates the quality and performance of the pipeline, and is the foundation for setting quality standards for the carried tests. Blueprint Genetics performs analytic…Read more