TEST CODE: 008833
DIAGNOSTIC TEST FOR: DERMATOLOGY
TURNAROUND TIME: 10–21 calendar days (14 days on average)
PREFERRED SPECIMEN: 3mL whole blood in a purple-top tube
ALTERNATE SPECIMENS: DNA or saliva/assisted saliva
Genetic testing for Dermatology
Our panels include over 3,900 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 be offered to 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.
What are the benefits of genetic testing?
Genetic testing produces information that may help you or your healthcare provider:
– establish or confirm your specific diagnosis
– provide an explanation of the underlying cause of your heart condition
– uncover potential risk of developing an underlying, multi-system condition that affects more than your heart
– make informed medical decisions and provide an opportunity to start risk reduction strategies
– identify other at-risk relatives for whom genetic testing is recommended
– make informed family planning decisions
Genomed’s Dermatology panels
CLINICAL AREA: HEREDITARY CANCER
DERMATOLOGY CANCER SYNDROMES
– Melanoma Panel
– Melanoma-Pancreatic Cancer Syndrome Panel
– Schwannomatosis Panel
– Basal Cell Nevus Syndrome Panel
– Birt-Hogg-Dubé Syndrome Test
– Lynch Syndrome Panel
– Neurofibromatosis Type 2 Test
– Sclerosis Complex Panel
CLINICAL AREA: PEDIATRIC AND RARE DISEASE SKIN DISORDERS
– Cardio-Facio-Cutaneous Syndrome Panel
– Ectodermal Dysplasia with or without Tooth Agenesis Panel
– Legius Syndrome Test
– Noonan Syndrome with Multiple Lentigines Panel
– PTEN-Related Disorders Test
– TP63-Related Disorders Test
– Van der Woude Syndrome Panel
Please contact us for the complete list of genes included on the multi-dematology panel and associated conditions.
What are the potential results?
A POSITIVE TEST RESULT CAN:
If testing identifies a variant associated with heart disease, consult with your healthcare provider to create a management plan and to identify relatives who may need to be tested.
A NEGATIVE TEST RESULT:
If testing identifies no variants associated with a hereditary heart disease, the underlying cause of your heart condition remains unknown. As our knowledge of genetics improves, additional genetic testing may become available.
AN UNCERTAIN VARIANT TEST RESULT:
In some cases, testing can identify a variant, but it is not known at this time whether the variant is associated with heart disease. If new information about your family history of heart conditions becomes available, this could change what your test results mean for you and your relatives. Always let your healthcare provider know if there are any updates regarding your family medical history.
Take action based on your results.
With Genomed, you can make health decisions based on your results. Our medical-grade tests are the same tests used by doctors and genetic counselors. Based on your results, you can work with your healthcare provider to consider:
– increased or earlier screenings
– lifestyle modifications
– early intervention to prevent the onset of disease