Doctor's Data Inc

DNA Methylation; buccal swab

Identification of SNPs that influence health and disease risk may improve clinical success and allow patients to optimize health and wellness.

The DNA Methylation Pathway Profile allows clinicians to screen their patients for a variety of genetic changes (single nucleotide polymorphisms, or SNPs) that may impact the function of important biochemical processes such as methionine metabolism, detoxification, hormone balance and Vitamin D function. The presence or absence of SNPs may modify disease risk. The risks may be reduced by lifestyle changes, and inefficient biochemical processes can be supported by diet and nutritional supplements to maximize the functions of metabolic pathways.

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Turnaround Time

7 to 14 days

Analytes Tested

Click any analyte name for additional clinical information, including reference ranges, specimen collection, stability and rejection criteria.

Analyte CPT ABN Required
ACAT - 1-02; buccal swab Yes
AHCY - 19; buccal swab Yes
AHCY - 1; buccal swab Yes
AHCY - 2; buccal swab Yes
BHMT - 1; buccal swab Yes
BHMT - 2; buccal swab Yes
BHMT - 4; buccal swab Yes
BHMT - 8; buccal swab Yes
CBS - A360A; buccal swab Yes
CBS - C699T; buccal swab Yes
CBS - N212N; buccal swab Yes
COMT - 61; buccal swab Yes
COMT - H62H; buccal swab Yes
COMT - V158M; buccal swab Yes
MAO A - R297R; buccal swab Yes
MTHFR - 3; buccal swab Yes
MTHFR - A1298C; buccal swab Yes
MTHFR - C677T; buccal swab Yes
MTR - A2756G; buccal swab Yes
MTRR - 11; buccal swab Yes
MTRR - A66G; buccal swab Yes
MTRR - H595Y; buccal swab Yes
MTRR - K350A; buccal swab Yes
MTRR - R415T; buccal swab Yes
MTRR - S257T; buccal swab Yes
NOS - D298E; buccal swab Yes
SHMT - C1420T; buccal swab Yes
SUOX - S370S; buccal swab Yes
VDR - Fok1; buccal swab Yes
VDR - Taq1; buccal swab Yes

List price applies when filing with insurance or Medicare, or when billing a patient directly.

Prompt payment pricing applies when billing to a physician account or prepayment is received with the test.

Doctor's Data offers profiles containing multiple analytes. *Multiple analytes may be billed under a single CPT code. Many analytes can be ordered individually. Pricing may vary. Click on a specific analyte for more information or read our detailed billing and payment policies.

The CPT codes listed on our website are for informational purposes only. This information is our interpretation of CPT coding requirements and may not necessarily be correct. You are advised to consult the CPT Coding Manual published by the American Medical Association. Doctor's Data, Inc. takes no responsibility for billing errors due to your use of any CPT information from our website.

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Detailed Information

Identifying single nucleotide polymorphisms (SNPs) that may influence health and risk for dieases facilitates clinical support for patients. The Doctor's Data DNA Methylation Pathway Profile includes a variety of SNPs known to influence many aspects of health including:

insulin sensitivity
bone health
cancer risks
cardiovascular health
detoxification processes
mitochondrial function and metabolism
neurotransmitter balance
SNPs are DNA sequence variations that occur relatively frequently in the general population. They are different from disease mutations, which are very rare. Huntington's disease is an example of a disease mutation - if you inherit the altered gene, the disease will develop. Certain SNPs may be associated with particular health conditions, but they are not known to directly cause disease. The majority of SNPs affect protein, enzyme or cell receptor structure and function.

The identification of SNPs and their impact on health and physiology is an ongoing area of research – the hope is that finding and studying these small variations in DNA will lead to better and more individualized medical interventions.  In many cases the environment – diet, nutrition, toxicant exposures, stress - may further modify the expression of genes and SNPs. 

The SNPs affecting detoxification and methylation become even more important if a patient has been exposed to the toxicants such as mercury, lead or bisphenol A (BPA).  Lead and BPA inhibit the function of methyltransferases, and mercury inhibits methionine synthase, an important enzyme in the re-methylation of homocysteine.  Methylation is an essential step in the detoxification and elimination of arsenic and other xenobiotics.  Normal methionine metabolism is a critical component of Phase II detoxification processes; the B-12 and folate-dependent transmethylation and B-6 dependent transsulfuration pathways convert homocysteine to cysteine.  Cysteine is an important precursor in glutathione biosynthesis.

The greatest difficulty in interpreting SNP results is determining the extent to which a DNA genotype is phenotypically expressed.  Functional tests, combined with evaluation of the patient’s symptoms and responses to intervention, are necessary to assess the influence of known SNPs on the phenotype. DDI’s Plasma Methylation Profile is one such test; it provides a direct assessment of several major metabolites that indicate genetic and epigenetic affects.  The Plasma Methylation Profile is a functional follow-up test when SNPs affecting methionine metabolism are identified.

DDI’s DNA Methylation Pathway Profile allows clinicians to screen their patients for a variety of SNPs that may impact the function of important biochemical processes.  Identifying SNPs that influence health and disease risk allows clinicians to support their patients with appropriate lifestyle changes and nutrition to maximize health and wellness.

Environmental Exposure and Detoxification

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