DetoxiGenomic Profile

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Turnaround Time: 21 Days
Test Type: Kit Based, Salivary


This test evaluates single nucleotide polymorphisms (SNPs) associated with increased risk of impaired detoxification capacity especially when exposed to environmental toxins. It also identifies individuals potentially susceptible to adverse drug reactions.

Phase I: Cytochrome P-450
• CYP1A1 • CYP2A6 • CYP2C9 • CYP3A4 • CYP1B1 • CYP2D6 • CYP1C19
Phase I is the first line of defense in the detoxification of all environmental toxins, including pesticides, herbicides, pollutants, and solvents, pharmaceuticals and nutraceuticals, as well as many of the body’s own waste products (including steroid hormones).

Phase II: Conjugation of Toxins and Elimination
Methylation (catechol-O-methyltransferase)
Polymorphisms may lead to impaired metabolism of the catecholamine neurotransmitters (dopamine, epinephrine, and norepinephrine) and may predispose individuals to anxiety , ADHD, alcoholism, and rapid cycling in bipolar individuals.

Acetylation (N-acetyl transferase)
• NAT1 • NAT2
NAT detoxifies many environmental toxins, including tobacco smoke and exhaust fumes. Polymorphisms may result in slow or rapid acetylation, both associated with increased risk of lung, colon, bladder , or head & neck cancer.

Glutathione Conjugation (glutathione s-transferase)
GST detoxifies many water-soluble environmental toxins, including solvents, herbicides, fungicides, and heavy metals (eg, mercury , cadmium, and lead). Defects in GST activity can contribute to fatigue syndromes and many cancers.

Oxidative Protection (superoxide dismutase)
• SOD1 • SOD2
Mutations affecting these antioxidant enzymes can lead to increased free radical activity and cell damage, and may increase the risk of developing neurodegenerative disorders.

Performing Lab: Genova

Collection Details:

Patient Preparation:

• Specimen must be collected immediately upon rising. Do not practice normal
oral hygiene routine, do not eat or drink.
• Prior to collection: The night before collection, use your normal nightly routine of
brushing and flossing of teeth, but do not use mouthwash.
•Morning of Collection: On the morning of collection, do not eat, brush or floss
your teeth, use mouthwash, chew gum or use any tobacco, or coffee products. You
may drink ONLY water before specimen collection. Just prior to collection, wash
hands completely with hand soap.

Collection Instructions:

Write patient’s first and last name, date of birth, gender and date of
collection on the Test Requisition Form.
IMPORTANT: To ensure accurate test results you MUST provide the
requested information.
2. Peel open the package labeled, “Sterile Cotton Tipped Applicator.” Only peel back
the package far enough to remove the cotton swab applicator. Keep the packet intact. (See Figure 1).
3. Remove one applicator taking care to avoid contact with the cotton tip.
4. Open your mouth widely and insert applicator. For at least 30 seconds,
aggressively scrape the inside of your cheek using a back and forth, and up and
down motion. Be sure to rotate the applicator several times to ensure the swab
collects a sufficient amount of cheek cells. In addition, swab between the cheek
and gums. (See Figure 2)
Note: If there is not enough DNA collected on the applicator, a recollection will
be required.
5. Remove the applicator from your mouth and allow cotton tips to air dry for
15-20 minutes (See Figure 3A) before placing it back into the original packaging,
cotton swab first. (See Figure 3B)
6. Repeat the collection process (steps 1-3) with the second applicator on your
opposite cheek.