The human genome comprises 3.2 billion DNA base pairs and about 20,000 to 25,000 genes, with 99.6% of DNA being identical among individuals. Genes, segments of DNA within chromosomes, provide the instructions for producing proteins essential for bodily functions. While most human cells have 46 chromosomes, mutations can result in conditions like Down Syndrome or Fragile X Syndrome. Genetic alterations may lead to diseases such as cancer, diabetes, and heart disease. Genetic testing helps identify potential disease risks, enabling healthcare providers to implement preventative strategies.

Methylation Panel (Plasma, Whole Blood)

The Methylation Panel provides insight into the essential biochemical methylation pathway. It assesses methylation metabolites in plasma to uncover a patient’s nutritional support needs, including amino acids, vitamins, and minerals.

Biomarkers:

  • Betaine
  • Betaine/Choline Ratio
  • Choline
  • Cystathionine
  • Cysteine
  • Dimethylglycine
  • Glutathione
  • Glycine
  • Homocysteine
  • Met/Sulf Ratio
  • Methionine
  • Methylation Balance Ratio
  • SAH (S-Adenosylhomocysteine)
  • SAMe (S-Adenosylmethionine)
  • SAMe/SAH Ratio
  • Sarcosine
  • Serine
  • Taurine

Results: Typically available within 7-10 business days after sample receipt.
Note: This service is self-pay only and not eligible for insurance claims, including Medicare/Medicaid.

Wellness Panel (Saliva Swab)

This Panel analyzes 40 genetic variants that relate to optimal wellness. From food sensitivities to vitamin deficiency potential, this test provides actionable information for every healthcare provider.

Biomarkers:

ADIPOQ

AMY1

APOA2

BCO1

BDNF

COMT

CUBN

CYP4F2

FADS1

FADS2

FTO

FUT2

GC

GPX1

HFE

HLA-DQ2

HLA-DQ8

HNMT

Intergenic rs12272004

MAOA

MAOB

MCM6

MTHFR

MTRR

MYO9B

MYRF

NBPF3

PEMT

PLIN1

PON1

SLC19A1

SLC23A1

SLC23A2

SLC30A8

SUOX

TNF

Results: Typically available within 7-10 business days after sample receipt.
Note: This service is self-pay only and not eligible for insurance claims, including Medicare/Medicaid.

MTHFR Genotype (Swab)

This test detects variations in the MTHFR gene. It identifies individuals with reduced folate metabolism who may be at an increased risk for cardiovascular disease.

Results: Typically available within 1-7 business days after sample receipt.
Note: This service is self-pay only and not eligible for insurance claims, including Medicare/Medicaid.

A physical examination and comprehensive health history are important complements to genetic testing, along with a family history, as many genetic disorders can be inherited. Based on the results of genetic assessments, further testing may be needed to evaluate conditions like diabetes, cardiovascular health, micronutrient levels, food sensitivities, or Alzheimer’s disease. Additional diagnostics may also be necessary in cases of cancer diagnosis.

Treatment Plans

Based on patient assessments and genetic testing results, a tailored care plan may be developed for treatment or preventive measures.

Some common treatment plans include:

  • Lifestyle Improvements: Enhance sleep quality, reduce stress, and increase physical activity.
  • Nutritional Optimization: Eliminate alcohol and refined foods, avoiding items that trigger gut issues.
  • Supplements: Focus on specific needs like vitamin D, folate, omega-3 fatty acids, probiotics, and magnesium.
  • Gene Therapy: Consider for specific cancers when applicable.

References

  1. https://www.rupahealth.com/post/the-best-of-genetic-testing-in-functional-medicine-personalized-treatment-plans-for-patients
  2. https://www.mayoclinic.org/tests-procedures/genetic-testing/about/pac-20384827
  3. https://medlineplus.gov/genetics/understanding/basics/gene/#:~:text=Genes%20are%20made%20up%20of,more%20than%202%20million%20bases.
  4. https://my.clevelandclinic.org/health/body/23095-genetic-mutations-in-humans#:~:text=Genetic%20mutations%20are%20changes%20to,to%20their%20environment%20over%20time.
  5. https://www.mayoclinic.org/tests-procedures/gene-therapy/about/pac-20384619#:~:text=Gene%20therapy%20holds%20promise%20for,part%20of%20a%20clinical%20trial.
  6. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1570487/#:~:text=Gene%20transfer%20is%20a%20new,clinical%20trials%20with%20successful%20outcomes.
  7. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4363073/