DetoxiGenomic Profile and a la carte SNPs
Buccal Swab
Performed by: Genova Diagnostics
The DetoxiGenomic® Profile and a la carte SNPs are designed to assess genetic risks for chronic diseases. According to the CDC, precision medicine, also known as personalized medicine, tailors patient care based on genetics, lifestyle, and environmental factors. Single Nucleotide Polymorphisms (SNPs) are genetic variants that can predispose patients to various chronic diseases. By testing for these SNPs, clinicians can identify genetic predispositions and customize treatments. Everyone has SNPs, which are common and generally not as severe as genetic mutations. SNPs subtly reduce cellular functions, impacting overall quality of life. Genomic testing helps identify hidden gene polymorphisms that may lead to chronic diseases. Many people mistakenly believe that having a SNP means they will develop the associated disease. However, most genes can be influenced by environmental, dietary, and lifestyle factors. Genotypic SNP testing can prompt monitoring of associated biomarkers, such as closely watching homocysteine levels in patients with MTHFR polymorphisms. SNP testing is beneficial for patients with chronic conditions that resist treatment, a family history of cardiovascular disease, mood disorders, Alzheimer’s, cancer, autoimmune diseases, inflammatory conditions, cardiovascular disease, mood disorders, osteoporosis, metabolic disorders, chemical sensitivity, asthma, lung problems, and cognitive decline.
The DetoxiGenomic Profile evaluates over 20 SNPs related to phase 1 and phase 2 detoxification pathways, highlighting risks of impaired detoxification capacity and susceptibility to adverse drug reactions. Specific SNPs available include:
- ApoE (Apolipoprotein E): Involved in lipid metabolism, linked to increased cardiovascular and Alzheimer’s disease risk.
- COMT (Catechol-O-Methyltransferase): Associated with reduced enzyme activity, neuropsychiatric disorders, impaired estrogen metabolism, and increased pain sensitivity.
- GSTP1 or GSTM1 (Glutathione S-Transferase): Linked to decreased detoxification ability, oxidative stress, and chronic disease risk.
- MTHFR (C677T, A1298C): Disrupts homocysteine metabolism, increasing risk of cardiovascular disease, blood vessel damage, thrombosis, stroke, and degenerative aging.
- SOD2 (Superoxide Dismutase): Reduced SOD activity, increasing oxidative stress risk.
- TNFα (Tumor Necrosis Factor-alpha): Proinflammatory cytokine, linked to inflammation, oxidative stress, and various diseases.
- VDR (Vitamin D Receptor): Associated with decreased bone density and osteoporosis.
These SNPs can be added to other profiles like NutrEval, Metabolomix+, Methylation Panel, and Essential Estrogens for comprehensive genetic risk assessment.
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Biomarkers included in this panel:
GSTM1
The health implications of Glutathione S-Transferase (GST) are significant, as GST is crucial for Phase II detoxification of xenobiotics, carcinogens, and oxidative stress products. GSTM1, a specific variant of GST, is primarily located in the liver.
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