Ambry Genetics, the Aliso Viejo, Calif.-based esoteric laboratory, has released a new panel of tests that focus specifically on detecting life-threatening cardiac conditions. The tests focus on inherited cardiomyopathy, a weakened heart muscle, and arrhythmias, irregular heartbeats. Either can lead to sudden cardiac arrest, among other conditions, and are often asymptomatic until the moment the person’s heart stops. The tests identify genes associated with such conditions – particularly MYBPC3 and MYH7 – and provide analysis regarding a patient’s specific risk profile. “Variants of unknown significance are a major concern with cardiovascular genetic testing … this greatly reduces the number of uncertainties families may receive,” said Ambry Cardiology Product Manager Melissa Dempsey. The assays are offered as tiered products within an overall 84-gene cardiovascular panel marketed as CardioNext. It also includes Ambry’s existing test for markers signifying a risk for aortic aneurysms or dissections; Marfan syndrome (a connective tissue disorder that can lead to an enlarged aorta); Ehlers-Danlos syndrome (weakened blood vessels); familial hypercholesterolemia (high levels of LDL cholesterol); hereditary hemorrhagic telangiectasia (spontaneous internal bleeding); and transthyretin amyloidosis (abnormally high cardiac protein deposits). Any of these conditions can lead to a debilitated heart and circulatory system that can catastrophically fail without […]
Ambry Genetics, the Aliso Viejo, Calif.-based esoteric laboratory, has released a new panel of tests that focus specifically on detecting life-threatening cardiac conditions.
The tests focus on inherited cardiomyopathy, a weakened heart muscle, and arrhythmias, irregular heartbeats. Either can lead to sudden cardiac arrest, among other conditions, and are often asymptomatic until the moment the person's heart stops.
The tests identify genes associated with such conditions - particularly MYBPC3 and MYH7 - and provide analysis regarding a patient's specific risk profile.
"Variants of unknown significance are a major concern with cardiovascular genetic testing ... this greatly reduces the number of uncertainties families may receive," said Ambry Cardiology Product Manager Melissa Dempsey.
The assays are offered as tiered products within an overall 84-gene cardiovascular panel marketed as CardioNext. It also includes Ambry's existing test for markers signifying a risk for aortic aneurysms or dissections; Marfan syndrome (a connective tissue disorder that can lead to an enlarged aorta); Ehlers-Danlos syndrome (weakened blood vessels); familial hypercholesterolemia (high levels of LDL cholesterol); hereditary hemorrhagic telangiectasia (spontaneous internal bleeding); and transthyretin amyloidosis (abnormally high cardiac protein deposits). Any of these conditions can lead to a debilitated heart and circulatory system that can catastrophically fail without warning.
The assays can be performed with samples of blood, saliva, DNA, or cultured cells. The turnaround time is between six to eight weeks.
The new tests represent an expansion of Ambry's focus, which has primarily been on cancer-related genetic testing. It introduced a breast cancer genetic test not long after the U.S. Supreme Court invalidated patent claims to single genes in 2013.
"We are very pleased to offer updated testing for these inherited cardiac conditions that impact so many people, young and old," said Brigette Tippin Davis, Ambry's technical laboratory director. "Tiered panels offer clinicians cost-effective, timely options that focus on specific phenotypes - all with the goal of giving families a rapid and meaningful diagnosis."
Takeaway: Ambry is expanding its product line to include tests for more conditions that can lead to sudden death if untreated.
