A mutation of the DSG2 gene is associated with a sudden cardiac death syndrome.
This condition is called arrhythmogenic right ventricular cardiomyopathy (ARVC).
If there is a positive family history of ARVC, then it is important that younger family members who might have inherited this gene, be tested for its presence.
Whole genome testing has been evolving since Dr Gene Venter first analyzed his whole genome at a cost of ?
Now whole genome testing includes testing for all 22,000 genes. This includes the testing for mutations of DSG2.
New Amsterdam genomics in New York provides whole genome testing at cost effective rates that are affordable by most families.
A 22 year old male had his whole genome analyzed because of the family history of sudden death. He was found to have the DSG2 mutation. This justified the use of an implantable cardiac defibrillator. He continues to do well and is protected by this device.
Rupert Case Management Inc. (RCM) is pleased to now be providing this whole genome testing for clients located anywhere. In addition, RCM is providing genetic counselling and then follow on case management and advocacy if it is required to achieve the best outcomes for our clients.