Genetic Testing

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The body deals with stress through a process called methylation.  Methylation has three primary functions:

  • Promote Detoxification

  • Control Inflammation

  • Balance Neurotransmitters



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Did you ever wonder WHY all of a sudden someone develops a neurodegenerative disorder, heart disease, an autoimmune condition, suffer a stroke or even…. develop cancer?


Did it just drop down out of the sky and land on their head?

No! They expressed a “mutated gene!”

How do you express “mutated genes” like autoimmune, MS, ALS, Parkinson’s, heart disease or cancer?


The answer is depleted methyl groups! Depletion of your body’s methyl groups is how “mutated” genes are expressed.


One thing that I tell all of my patients right away is that epigenetics will dictate genetics. Now what do I mean by that? What you put into your body will dictate how your genes are expressed. So, the first thing a person needs to do is to correct their diet. Doing this alone may allow your body to make up for any genetic issues that you may have.

So, lets get back to methyl groups. How are methyl groups in our bodies depleted? Of course, there are the genetic mutations, but lets consider the epigenetics of it. consuming a poor diet loaded with “white death”–white sugar, white flour, white salt, “bad oils”–trans fatty acids, hydrogenated oils, produce loaded with pesticides and herbicides, junk food, drinks loaded with caffeine, high-fructose corn syrup, genetically modified foods, and high levels of stress! These will all deplete your methyl groups and make your chances higher of expressing a “mutated gene.”


If methylation is not performing efficiently, key bodily functions can not be performed effectively.  These abnormal by-products can lead to high levels of inflammation in the body, which can result in mood and emotional changes as well as liver, pancreas, thyroid, stomach, intestinal, adrenal, and hormone imbalances.


Methylation is VERY important to the following processes to occur in our body: 

  • DNA/RNA synthesis (turning on /off genes)

  • Brain chemical production (e.g. dopamine and serotonin)

  • Hormonal breakdown (e.g. estrogen and testosterone)

  • Creation of immune cells (e.g. NK cells and T-cells)

  • Creation of protective coating on nerves (i.e. myelin formation)

  • Processing of chemicals and toxins (detoxification)

  • Produces Energy

When poor Methylation occurs in our body, here is what can happen:

  • Cancer

  • Diabetes

  • Thyroid Disorders

  • Neurological Disorders… Parkinson’s, tremor disorder, MS, Alzheimer’s, dementia, peripheral neuropathy, migraines, and cluster headaches

  • Hormonal regulation issues such as PMS, ovarian cysts, fibroids, PCOS in women or low testosterone in men

  • Autoimmune disorders and Immune deficiency

  • Chemical Sensitivities and allergies

  • Fibromyalgia

  • Chronic Fatigue Syndrome

  • Chronic Pain Syndromes (neck, back, shoulder, knee, etc.)

  • ADHD, Autism, Asperger’s syndrome, dyslexia, and learning disabilites

  • Insomnia

  • Frequent Miscarriages

  • Depression

  • Anxiety

  • Lyme Disease

  • Chronic Infections (candida, parasites, bacterial, viral, etc.)

  • Gut issues (IBS, Ulcerative Colitis, Crohn’s, chronic diarrhea or constipation)

  • Heart Disease















MTHFR is an enzyme in the methylation cycle that converts 5,10MTHF to 5-MTHF Methylene-tetrahydrofolate reductase, basically the conversion of inactive vitamin B9 to active vitamin B9.  The MTHFR enzyme is vital for many biochemical processes in the body and is a major player in the methylation cycle.  A genetic problem interferes with your body’s ability to break down folates and folic acid into methylfolate, leading to a decrease in methylfolate production, methyl B12 production, and SAMe (S-Adenosyl Methionine).  Deficiencies in active folate (methylfolate) can cause many chronic neurological and metabolic health condition.



What are the MTHFR Genetic Defects? 


There are various polymorphisms (or SNPs) that can occur on the MTHFR gene, they are named for the number position on the gene.  The letters stand for one of the nucleobases (Guanine, Adenine, Thymine, Cytosine).  Defects can occur in two different places on the gene –  C677T  or  A1298C.


You can have the following two common MTHFR genetic mutations:

Heterozygous  +/-   — 40% reduction in MTHF production
Homozygous  +/+ — 75% reduction in MTHF production

Heterozygous +/-  —  20% reduction in MTHF production
Homozygous +/+  —  40% reduction in MTHF production

Compound Heterozygous (677/1298) 
50-60% reduction in MTHF production

(Heterozygous – one normal gene, one affected gene)
(Homozygous – one gene from mom, one gene from dad)

The more polymorphisms, typically the more significant the problem.


Its all about making Glutathione and SAM, the body’s key antioxidant and methyl donor respectively.  MTHFR mutations cause low Glutathione, causing more toxicity and higher oxidative stress – chronic neurological and metabolic conditions.




  • Over 70% of children with Autism Spectrum Disorders have MTHFR mutations

  • Over 60% of mothers who gave birth to a child with Down Syndrome have MTHFR mutations

  • Approximately 45% of the population has 1 copy of the MTFHR C677T genetic mutation



What About Other SNPs (Single Nucleotide Polymorphisms)

I wish I could tell you methylation was as easy as just looking at MTHFR, but it’s not. SNPs are variations in the genetic makeup, so like we talked about before MTHFR has two main SNPs or variations that lead to decreased methylation. As you can see from the chart above there are many genes that are apart of the methylation cycle and all of them could potentially have SNPs.

So, if your looking just at MTHFR alone to determine if there are issues with methylation you are missing a very large chunk of information. I always tell my patients that looking at MTHFR alone is like looking at TSH alone for someone that has thyroid issues. It gives good information, but by no means can you look at this one factor to determine if the entire system is working like it is supposed to. That is why we do an entire thyroid panel on all of our patients to figure out where the issues are and how to properly address them and that is why we look at hundreds of different genes in relation to their health and related symptoms.


Think of methylation as an assembly line. MTHFR is the gateway and determines what kind of raw material you are working with and if you have enough, but if other workers (genes) don’t do their jobs properly (SNPs) then the end product either won’t be good or you wont have enough finished product to support the system. So what is the take home message? Methylation is VERY important to the body and how it functions. MTHFR is the gateway to methylation and an important piece of the puzzle, but many other factors have to be considered and addressed in order for true healing and progress to be made (epigenetics, other SNPs, other pathways, etc.).







  • Supplement with what your body isn’t creating.  Based on genetic testing, one can determine what is needed to bypass or support a specific mutation or SNP, as well as determining if any additional cofactors or substrates are needed

  • Remove underlying chronic infections such as: Lyme, bacteria, viruses, parasites, and yeast

  • Address Heavy Metal Toxicity

  • GI function & Detoxification is key

  • Follow up testing and monitor improvement