18 August 2022 | Thursday | News
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Boston Heart Diagnostics, part of the Eurofins network of companies, announces the launch of LipidSeq™, a revolutionary genetic test for cardiovascular disease. This saliva-based NGS test identifies the most common genetic causes of lipid and lipoprotein disorders. These disorders are associated with premature cardiovascular, pancreatic, kidney, and neurological diseases.
When patients have very high levels of low-density lipoprotein cholesterol, triglycerides, or plasma sterols and/or very low levels of high-density lipoprotein cholesterol, there is a likelihood of a genetic mutation. Conditions detected by this 23-gene test include familial forms of hypercholesterolemia, lysosomal acid lipase deficiency, sitosterolemia, cerebrotendinous xanthomatosis, dysbetalipoproteinemia, hypertriglyceridemia, and HDL deficiency states including ApoA-I deficiency, Tangier disease, and LCAT deficiency, as well as other disorders. If there is a genetic basis for the patient's condition, understanding the specific mutation and associated disease can help guide treatment considerations, educate the patient about health risks, and encourage relatives to seek testing to determine if they, too, may be at risk. Boston Heart is the only commercial laboratory able to test biochemical and genetic contributors when diagnosing inherited disorders of lipid metabolism (Reference: Schaefer EJ, Geller AS, Endress G. The biochemical and genetic diagnosis of lipid disorders. Current Opinion in Lipidology 2019; 30:56-62.)
Testing of appropriate patients can be done at any age, which favors early identification and treatment of genetically influenced lipid and lipoprotein disorders. Early diagnosis and precision treatment can save lives, and have a significant clinical impact for practitioners, patients, and their families.
LipidSeq was developed in collaboration with Eurofins laboratory partner Clinical Enterprise, which performs the genetic sequencing, and in consultation with Dr. Robert A. Hegele of Robarts Research Institute in London, Ontario.
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