Boston Heart Diagnostics announced the launch of Lipidseq™, a saliva-based next-generation sequencing (NGS) test for genetic disorders of lipid metabolism such as lysosomal acid lipase deficiency (LAL-D).

The announcement says the testing can be performed at any age, facilitating prompt diagnoses and treatment for genetically based lipid and lipoprotein disorders.

This new 23-gene saliva test can detect hereditary forms of LAL-D, hypercholesterolemia, sitosterolemia, cerebrotendinous xanthomatosis, dysbetalipoproteinemia, hypertriglyceridemia, and high-density lipoprotein deficiency states including ApoA-I deficiency, Tangier disease, and lecithin-cholesterol acyltransferase deficiency, among others.

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Read more about LAL-D diagnosis

Genetic mutations can cause low levels of high-density lipoprotein cholesterol and very high levels of low-density lipoprotein cholesterol, plasma sterols, and triglycerides. Understanding the mutation(s) involved in a patient’s condition can help clinicians and patients make treatment decisions and alert relatives to the need to be screened for mutations.

Given that genetic disorders of lipids and lipoproteins can be associated with premature cardiovascular, kidney, pancreatic, and neurological diseases, the availability of a test such as Lipidseq™ will favor early diagnoses and treatment, which could have a significant positive impact on patients and their families.


Boston Heart Diagnostics launches Lipidseq™– an NGS test for common genetic disorders of lipid metabolism. News release. Boston Heart Diagnostics; August 17, 2022.