Genetic Testing:
Commercial Genetic Testing is available for a number of inherited heart rhythm disorders, including Long QT Syndrome (LQTS), Hypertrophic Cardiomyopathy (HCM), Brugada Syndrome (BrS), Arrhythmogenic Right Ventricular Dyplasia/Cardiomyopathy (ARVD/C), and Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT).
DCM, HCM and ARVD/C Genetic Testing:
The Laboratory for Molecular Medicine (LMM) is a CLIA-certified clinical diagnostic laboratory operating within the Harvard Medical School - Partners HealthCare Center for Genetics and Genomics. LMM offers testing for inherited heart rhythm disorders including Dilated Cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM), and Arrhythmogenic Right Ventricular Dyplasia/Cardiomyopathy (ARVD/C).
Visit http://www.hpcgg.org/LMM for more information regarding the genetic testing services of LMM.
Long QT, Brugada Syndrome and CPVT Genetic Testing:
PGX Health offers the FAMILION® test to detect mutations that can cause cardiac channelopathies, including Long QT Syndrome (LQTS), Brugada Syndrome (BrS) and Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT). The FAMILION test is helpful in diagnosing these inherited heart rhythm disorders, guiding treatment plans and determining whether other family members are at risk.
Visit http://www.pgxhealth.com/genetictests/familion/ for more information about genetic testing for LQTS, BrS or CPVT.
Check out the following resources provided by PGX Health:
Diagnosing Channelopathies: Assembling the Pieces of Diagnostic Puzzle
Patient Information about FAMILION Genetic Testing
PGX Health Reimbursement Services
Genetic Resources
Genetic Testing Resources
- link to www.genetests.org
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Learn about Genetics - link to
Genetics Home
Reference Handbook
This handbook, "Help Me Understand
Genetics" was written by the National Institute of Health
and updated on September 17, 2007. It is full of
wonderful illustrations and easy to understand definitions
and explanations. |
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Genetic Discrimination – A Call to Action
Genetics plays a large part in the lives of those of us with inherited heart rhythm disorders such as Long QT, Brugada Syndrome and Hypertrophic Cardiomyopathy. A genetic predisposition to a life-threatening event can affect health care, insurance and employment opportunities. The growing use of genetic information and its impact on our society will depend on the response of legal, political, and social institutions.
C.A.R.E. Foundation suggests that affected families visit: http://www.geneticalliance.org to learn more about the Genetic Information Nondiscrimination Act (GINA) and to take action.
If you or anyone you know has experienced genetic discrimination by insurance companies or employers, please contact C.A.R.E. at (800) 404-9500 or email us at care@CAREforhearts.org
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Clinical Investigation and Reports
Genotype-Phenotype Correlation in the Long-QT Syndrome -
Gene-Specific Triggers for Life-Threatening Arrhythmias
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University of Miami School of Medicine Genetic Testing - Call for Participants
For more information, please see our Call for Participants PDF.
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