Berries Health Adult Metabolic Syndrome Plus Wound Care & Healing Disorders Panel

The Adult Metabolic, Wound Care & Healing Disorders Panel is an extensive genetic test aimed at identifying specific gene variations associated with a variety of health conditions covered under BH-MS plus vascular issues related to diabetes, and various wound care and healing disorders. 

Clinical Utility:

The wound panel genetic testing aims to uncover germline genetic variations that may contribute to adult-onset metabolic or wound healing disorders. Such information is essential for diagnosis, prognosis, and developing targeted treatment plans. Early detection of these variations aids in managing and preventing complications associated with metabolic, wound care, and healing disorders, thereby providing more personalized treatment options, educating family members about their risk factors, connecting patients with relevant resources, and offering family planning options. 

Methodology:

The test analyzes inherited genetic variations (germline mutations) in inflammatory and metabolic pathway genes. Genes encode instructions for building protein molecules, and variations in these genes can affect health, particularly in metabolic processes. Identifying harmful (pathogenic) variants can confirm whether a condition is linked to an inherited syndrome.  

The wound panel assesses a curated set of genes for genetic changes compared to human reference variants associated with adult-onset metabolic and wound healing disorders. The Berries Health Metabolic, Wound Care & Healing Disorders Panel is a Laboratory Developed Test (LDT), validated at BH Molecular Diagnostics Laboratory partner using Twist Exome 2.0 and the Illumina NovaSeq6000 Next Generation Sequencing (NGS) platform. This test has not received FDA clearance or approval.  

Interpreting Genetic Test Results:

• Positive Result: Indicates the presence of a pathogenic variant linked to a metabolic disorder. Some disorders are dominant, requiring only one defective gene, while others are recessive, necessitating two defective copies. A heterozygous pathogenic variation signifies that the individual is a carrier and may not experience the condition. This insight aids patients and their healthcare providers in managing treatment plans.

• Variation of Uncertain Significance (VUS): If a change is detected that has not been previously linked to metabolic disorders, it may be classified as a VUS. This finding indicates uncertainty and typically does not impact healthcare decisions. As research progresses, some VUS may be reclassified as benign or associated with disease, so maintaining contact with healthcare providers for updates is important.

• Negative Result: Signifies that no specific disease-associated variants were found among the genes tested, indicating the patient does not have a genetic variation linked to the conditions evaluated by the panel.

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.

Adult Metabolic Syndrome Plus Wound Care & Healing Disorders Panel