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Genetic Testing
What Is Genetic Testing?
Genetic testing involves looking at blood, saliva, or other tissues to find changes in an individual's genes or genetic sequence. Genetic changes may be the underlying cause for certain medical conditions or signal a higher chance to develop symptoms in the future.1
Genetic testing looks for changes in a person's1:
EARLY TESTING IS IMPORTANT
The goal of early genetic testing is to establish an earlier diagnosis, which could lead to potentially better outcomes.2,3
Rocket’s unwavering commitment to seeking gene therapies for the rare-disease patient community means that, in addition to our leading clinical research, we actively seek ways to address their urgent and often unmet needs. Thanks to scientific advancements, patients may pursue genetic testing with the goal of receiving an accurate and early diagnosis.
Rocket is proud to play a leading role in advocating for early testing and diagnosis of rare genetic diseases.
TESTING FOR CARDIOVASCULAR DISORDERS
There are several genetic testing methods available that can help detect cardiovascular disorders such as Danon disease, a rare and often fatal form of genetic cardiomyopathy.4,5 For patients with suspected cardiomyopathy, genetic testing can reduce the time to diagnosis, prevent misdiagnosis, and inform disease management.2
Types of genetic tests for cardiovascular disorders include:
Single-gene test1,4- Looks for mutations in a specific gene
- Used to confirm a diagnosis when multiple variants in the gene are suspected
Broad-panel test1,4- Allows for testing of many genes in a single procedure
- Used when a number of conditions are suspected or when the condition can be cause by mutations in more than one gene
Whole exome/genome testing1,4- Analyzes patients’ entire DNA sequence
- May be used when single-gene and broad-panel testing have not confirmed a diagnosis or genetic cause is still unclear
References: 1. MedlinePlus. National Institutes of Health. Help me understand genetics. Accessed September 18, 2024. https://medlineplus.gov/genetics. 2. Scherr CL, Kalke K, Ramesh S, et al. Integrating clinical genetics in cardiology: current practices and recommendations for education. Genet Med. 2022;24(5):1054-1061. 3. Fabie NAV, Pappas KB, Feldman GL. The current state of newborn screening in the United States. Pediatr Clin North Am. 2019;66(2):369-386. 4. National Academies of Sciences, Engineering, and Medicine. An evidence framework for genetic testing. Washington, DC: National Academies Press. 2017:1-149. 5. Brambatti M, Caspi O, Maolo A, et al. Danon disease: gender differences in presentation and outcomes. Int J Cardiol. 2019;286:92-98.