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Genetic Test for a Big Heart Has Big Benefits
Correlagen Diagnostics offers inexpensive, reliable way to diagnose Hypertrophic Cardiomyopathy, a leading cause of sudden cardiac death
WALTHAM, Mass.--(BUSINESS WIRE)--Correlagen Diagnostics, Inc. (www.correlagen.com), a leading provider of genetic testing services, today announced that it is offering a genetic test for Hypertrophic Cardiomyopathy (HCM), an inherited disease that affects one out of 500 Americans. HCM is the leading cause of sudden cardiac death in children and young adults and accounts for 40 percent of all deaths on athletic playing fields across the U.S.
HCM, which is characterized by a thickening of the heart muscle, is caused by a defect in one of several genes and can lead to severe problems including heart failure, stroke, or sudden death. While there is no cure for HCM, early diagnosis allows timely initiation of lifestyle changes and medical interventions that can delay disease progression and reduce the risk of sudden cardiac death. Many HCM patients benefit from beta blockers, calcium channel blockers and implantable cardioverter-defibrillators or ICDs. Since HCM is an inherited disease, it can be diagnosed through genetic testing, which can confirm a diagnosis in patients with unclear symptoms.
“HCM can be a difficult disease to diagnose, particularly in young patients participating in competitive sports,” said Dr. Martin Maron, co-director, Hypertrophic Cardiomyopathy Center, Tufts-New England Medical Center. “Since symptoms can vary greatly and often are similar to those of other non-cardiac diseases, patients with HCM may not realize they have the disease. And because HCM is a genetically transmitted heart disease, it is important to identify whether other family members are affected. Genetic testing can both clarify a diagnosis of HCM and determine an individual’s genetic predisposition for HCM. The information gained from genetic testing may directly impact a patient’s medical treatment or lifestyle recommendations.”
Because HCM is dominantly inherited, each child of an HCM parent has a 50 percent chance of harboring the disease-causing mutation. Once the specific genetic defect leading to HCM in a family (the “familial mutation”) has been identified in a patient, genetic testing can easily and inexpensively identify family members who carry the familial mutation and are at increased risk for HCM. At the same time, family members without the familial mutation no longer have to worry about being at risk for HCM or passing this risk on to their children.
Lisa Salberg, founder and president of the Hypertrophic Cardiomyopathy Association (HCMA), a non-profit patient advocacy and support group for HCM patients and their families, was diagnosed with HCM at age 12. She has lost four family members to the disease, including her sister who died at the age of 36. While Lisa’s family's history of heart disease may seem stunning, it is not uncommon. “There are an estimated 550,000 families in this country that have experiences similar to mine,” said Salberg. “For these families, early diagnosis can make a life or death difference. A positive result for HCM can lead to a course of medical treatment, lifestyle tips and exercise guidelines while a negative result can end rigorous and costly heart exams and the angst that often accompanies an unconfirmed diagnosis.”
To raise awareness of HCM and the importance of early diagnosis for effective management and better outcomes, Correlagen is working with organizations such as the HCMA (www.4hcm.org). Patients can also get information through HCM Centers around the country, including those at: Mayo Clinic (www.mayoclinic.org); Minneapolis Heart Institute (www.mplsheart.com); St. Luke’s-Roosevelt Hospital Center (www.hcmny.org); Stanford University Medical Center (http://hcm.stanfordhospital.com); Tufts-New England Medical Center (http://www.nemc.org/medicine/card/Hy...hyCenter.htm); University of Michigan (http://www2.med.umich.edu/department...iceprofile.cfm ?service_id=1098&group_id=HCC) (Due to its length, this URL may need to be copied/pasted into your Internet browser's address field. Remove the extra space if one exists); and University of Texas Health Science Center, San Antonio (www.hcmclinic.uthscsa.edu).
“Our goal is to make genetic testing services for HCM and other cardiovascular diseases more widely available and convenient to administer for physicians and – for the first time – affordable for patients,” said Dr. David Margulies, co-founder and CEO of Correlagen.
The HCM Sequencing Test
Correlagen Diagnostics’ HCM Sequencing Test requires only a cheek swab or a small blood sample from the patient. Physicians send the sample and the completed medical and insurance forms directly to Correlagen, where the patient’s DNA is extracted and analyzed. Correlagen’s highly automated testing processes allow for fast, accurate detection of disease-causing mutations in the genes known to be associated with most cases of familial HCM. Mutations detected in the genes are evaluated in the context of the current scientific literature, and a comprehensive report is prepared to help a patient’s physician understand and explain the results of DNA sequencing to the patient.
In the genetic testing arena, Correlagen’s “turn-around time” for results is very short, averaging only four weeks. Correlagen also handles all insurance claims on behalf of the patients. Regardless of the extent of insurance reimbursement, patient responsibility is limited to a small portion of the total testing cost.
Physicians and consumers may request information about the HCM test, as well as information about Correlagen’s other tests in the fields of cardiology, endocrinology, immunology, and ophthalmology by visiting www.correlagen.com or by calling Correlagen at 866-647-0735.
About Correlagen Diagnostics, Inc.
Founded in 2003, Correlagen Diagnostics, Inc. is bringing genetic testing to clinical practice in the fields of cardiology, endocrinology, immunology and ophthalmology. Correlagen uses a high throughput automated approach to its testing services that incorporates sequencing, variant analysis, and results reporting. To learn more, visit www.correlagen.com or call 866-647-0735.
Correlagen Diagnostics offers inexpensive, reliable way to diagnose Hypertrophic Cardiomyopathy, a leading cause of sudden cardiac death
WALTHAM, Mass.--(BUSINESS WIRE)--Correlagen Diagnostics, Inc. (www.correlagen.com), a leading provider of genetic testing services, today announced that it is offering a genetic test for Hypertrophic Cardiomyopathy (HCM), an inherited disease that affects one out of 500 Americans. HCM is the leading cause of sudden cardiac death in children and young adults and accounts for 40 percent of all deaths on athletic playing fields across the U.S.
HCM, which is characterized by a thickening of the heart muscle, is caused by a defect in one of several genes and can lead to severe problems including heart failure, stroke, or sudden death. While there is no cure for HCM, early diagnosis allows timely initiation of lifestyle changes and medical interventions that can delay disease progression and reduce the risk of sudden cardiac death. Many HCM patients benefit from beta blockers, calcium channel blockers and implantable cardioverter-defibrillators or ICDs. Since HCM is an inherited disease, it can be diagnosed through genetic testing, which can confirm a diagnosis in patients with unclear symptoms.
“HCM can be a difficult disease to diagnose, particularly in young patients participating in competitive sports,” said Dr. Martin Maron, co-director, Hypertrophic Cardiomyopathy Center, Tufts-New England Medical Center. “Since symptoms can vary greatly and often are similar to those of other non-cardiac diseases, patients with HCM may not realize they have the disease. And because HCM is a genetically transmitted heart disease, it is important to identify whether other family members are affected. Genetic testing can both clarify a diagnosis of HCM and determine an individual’s genetic predisposition for HCM. The information gained from genetic testing may directly impact a patient’s medical treatment or lifestyle recommendations.”
Because HCM is dominantly inherited, each child of an HCM parent has a 50 percent chance of harboring the disease-causing mutation. Once the specific genetic defect leading to HCM in a family (the “familial mutation”) has been identified in a patient, genetic testing can easily and inexpensively identify family members who carry the familial mutation and are at increased risk for HCM. At the same time, family members without the familial mutation no longer have to worry about being at risk for HCM or passing this risk on to their children.
Lisa Salberg, founder and president of the Hypertrophic Cardiomyopathy Association (HCMA), a non-profit patient advocacy and support group for HCM patients and their families, was diagnosed with HCM at age 12. She has lost four family members to the disease, including her sister who died at the age of 36. While Lisa’s family's history of heart disease may seem stunning, it is not uncommon. “There are an estimated 550,000 families in this country that have experiences similar to mine,” said Salberg. “For these families, early diagnosis can make a life or death difference. A positive result for HCM can lead to a course of medical treatment, lifestyle tips and exercise guidelines while a negative result can end rigorous and costly heart exams and the angst that often accompanies an unconfirmed diagnosis.”
To raise awareness of HCM and the importance of early diagnosis for effective management and better outcomes, Correlagen is working with organizations such as the HCMA (www.4hcm.org). Patients can also get information through HCM Centers around the country, including those at: Mayo Clinic (www.mayoclinic.org); Minneapolis Heart Institute (www.mplsheart.com); St. Luke’s-Roosevelt Hospital Center (www.hcmny.org); Stanford University Medical Center (http://hcm.stanfordhospital.com); Tufts-New England Medical Center (http://www.nemc.org/medicine/card/Hy...hyCenter.htm); University of Michigan (http://www2.med.umich.edu/department...iceprofile.cfm ?service_id=1098&group_id=HCC) (Due to its length, this URL may need to be copied/pasted into your Internet browser's address field. Remove the extra space if one exists); and University of Texas Health Science Center, San Antonio (www.hcmclinic.uthscsa.edu).
“Our goal is to make genetic testing services for HCM and other cardiovascular diseases more widely available and convenient to administer for physicians and – for the first time – affordable for patients,” said Dr. David Margulies, co-founder and CEO of Correlagen.
The HCM Sequencing Test
Correlagen Diagnostics’ HCM Sequencing Test requires only a cheek swab or a small blood sample from the patient. Physicians send the sample and the completed medical and insurance forms directly to Correlagen, where the patient’s DNA is extracted and analyzed. Correlagen’s highly automated testing processes allow for fast, accurate detection of disease-causing mutations in the genes known to be associated with most cases of familial HCM. Mutations detected in the genes are evaluated in the context of the current scientific literature, and a comprehensive report is prepared to help a patient’s physician understand and explain the results of DNA sequencing to the patient.
In the genetic testing arena, Correlagen’s “turn-around time” for results is very short, averaging only four weeks. Correlagen also handles all insurance claims on behalf of the patients. Regardless of the extent of insurance reimbursement, patient responsibility is limited to a small portion of the total testing cost.
Physicians and consumers may request information about the HCM test, as well as information about Correlagen’s other tests in the fields of cardiology, endocrinology, immunology, and ophthalmology by visiting www.correlagen.com or by calling Correlagen at 866-647-0735.
About Correlagen Diagnostics, Inc.
Founded in 2003, Correlagen Diagnostics, Inc. is bringing genetic testing to clinical practice in the fields of cardiology, endocrinology, immunology and ophthalmology. Correlagen uses a high throughput automated approach to its testing services that incorporates sequencing, variant analysis, and results reporting. To learn more, visit www.correlagen.com or call 866-647-0735.
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