Berries Health Metabolic Syndrome Panel (Adult) – BH-MS

(Conditions: Hyperlipidemia, Hypertension, Coronary Artery Disease, Diabetes, gout, porphyria, and hemochromatosis, Diabetic Vascular Disease). 

The Metabolic Syndrome Panel is an in-depth genetic test designed to identify gene variations linked to various health issues related to metabolic syndrome and cardiovascular disease risk. This panel specifically targets adult-onset metabolic disorders, including hypercholesterolemia, hyperlipidemia, hypertension, diabetes, coronary artery disease, gout, porphyria, and hemochromatosis. 

Focused on detecting mutations in genes that influence metabolic and inflammatory processes, this panel delivers precise insights into an individual’s genetic predisposition to these conditions. Disruptions in normal metabolism underpin these disorders, affecting how the body processes nutrients and energy. 

Clinical Utility and Purpose of the BH-MS Genetic Test:

The BH-MS Panel is suitable for individuals with personal or family histories of adult-onset metabolic disorders, especially if multiple family members are affected or if conditions necessitate hospitalization or long-term care. The BH-MS Panel aims to identify germline genetic variations contributing to adult-onset metabolic disorders. This information is vital for diagnosis, prognosis, and developing targeted treatment plans. Early detection of these variations aids in managing and preventing complications associated with metabolic disorders, ultimately leading to personalized treatment and support for patients and their families. 

Methodology:

The test detects inherited genetic variations (germline mutations) in inflammatory and metabolic pathway genes. The BH-MS is a Laboratory Developed Test (LDT) utilizing Twist Exome 2.0 and the Illumina NovaSeq6000 NGS platform, validated by BH laboratory partners. Please note that this test has not received FDA clearance or approval. 

Interpreting Genetic Test Results:  

• Positive Result: Indicates a pathogenic variant linked to a metabolic disorder has been found. Some disorders are dominant (only one defective gene needed), while others are recessive (two defective genes required). Carriers with heterozygous pathogenic variations may not show symptoms but can inform healthcare management. 

• Variation of Uncertain Significance (VUS): If a change is detected that has not been linked to metabolic disorders before, it may be classified as a VUS, indicating uncertainty about its role in disease. Ongoing research may reclassify these variants, so staying in contact with healthcare providers for updates is crucial. 

• Negative Result: Suggests that no disease-related variants were identified in the genes tested. 

Limitations of Testing 

This test is designed to identify germline pathogenic variants, including single nucleotide polymorphisms (SNPs) and small insertions and deletions (indels) of up to 1 kilobase pair (kbp). It also analyzes mutations within coding regions and the exon-intron boundaries, specifically within 50 base pairs. Any deletions or duplications larger than 1 kbp that are reportable will be confirmed using orthogonal methods before being included in the final report.

Metabolic Syndrome Panel (Adult) – BH-MS