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Reference Guide


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The human genome is made up of 3.2 billion DNA base pairs with humans having about 20000 to 25000 genes, and all human beings have 99.6 % of identical DNA according to the National Institute of General Medical Sciences (NIGMS).

A gene is composed of a segment of deoxyribonucleic acid (DNA; genetic material) with multiple DNA chains packaged together into the chromosomes of human cells. The DNA in genes provides the information to make the proteins that are needed to build and maintain body functions. The majority of human cells have 46 chromosomes, with exceptions when mutations or errors occur, leading to disease conditions such as Down Syndrome and FragileX Syndrome. Alterations to certain genes can lead to specific illness conditions such as cancer, diabetes, and heart disease. 

Disorders due to genetic changes can be inherited or occur randomly. Genetics testing can help by identifying potential risks for acquiring certain disease conditions, and enable healthcare providers to initiate preventative measures where possible.

What Genetics Tests measure?

Genetics tests analyze human body DNA and can uncover mutations or indicators in the genes which can lead to, or predispose a patient, to an illness condition. Genetics tests can provide information on a patient's vulnerability to inflammation or oxidative stress.

A variety of genetic tests are available through Rupa Health using saliva or blood sampling.

Some examples from this focus include:

  • Genova's Methylation Panel: A blood sample is processed to assess methylation  metabolites to provide information on the functioning of the biochemical methylation pathway. This test can also help determine the patient’s nutritional needs.
  • DNA RX's Wellness Panel: A saliva sample is used to test for 40 genetic variations to support health and wellness care.
  • BostonHeart's MTHFR Genotype: A blood sample is analyzed for the MTHFR genotype which can help determine individuals at risk for cardiovascular disease.

A physical examination and health history are beneficial additions to genetic testing, as well as a family history as genetic disorders can be inherited. Depending on the outcome of the patient assessment and genetic testing, additional testing may be required such as assessing for diabetes, cardiovascular status, micronutrients, food sensitivities, or Alzheimer’s. Additional diagnostics and testing might be necessary such as with a cancer diagnosis.

Treatment Plans

Depending on the outcome of patient assessment and genetics testing results, a plan of care may need to be implemented for treatment, or be proactive and preventative where possible.

Some treatment plans can include:

  • Lifestyle improvements to attain adequate sleep, decrease stress, physical activity
  • Nutritional optimization to eliminate alcohol and refined foods, and abstain from foods that cause gut issues
  • Supplements to improve specific areas such as vitamin D, folate, omega-3 fatty acids, probiotics, magnesium
  • Gene therapy for certain cancers
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