Genetic Testing
What Is It?
The basic principle behind genetic testing is simple—take a sub-cellular look at the specific genetic makeup of an individual to find a root cause or contributor to symptoms that are presenting in a patient. There are a number of tests that are clinically proven to help reveal dysregulation of serotonergic, dopaminergic and stress hormone pathways that can provide insight to the symptoms and illnesses that often evade traditional medical treatment. Patients are often misdiagnosed and are often prescribed medications that are ineffective at best and can lead to negative side effects.
Testing begins with a simple cheek swab.The harvested cells are put through one or more tests that can provide a better understanding of the individuals genetic and enzymatic pathways that regulate the critical neurochemical systems of the body.
It is important to state clearly that genetic testing is not a magical panacea that instantly cures all hard to treat ills. Genetic testing is simply an arrow in the quiver—a new and sometimes remarkably effective diagnostic tool that can illuminate our journey together toward helping your children thrive.
Methylation & MTHFR
MTHFR (Methylenetetrahydrofolate Reductase) is critical in the function of methylation, a complex biochemical process that regulates gene expression (turns genes on & off) and governs intracellular detoxification. The function of detoxification at the cellular level is especially important in children, as increased toxins levels can lead to a myriad of issues. MTHFR is needed for the metabolism of folate (folic acid) and is a cofactor needed to convert homocysteine (a potentially toxic amino acid) to methionine. The MTHFR test is used to evaluate the specific methylation function of an individual. Up to 80% of the population have DNA mutations that affect methylation—mutations that can cause over- or under-methylation. MTHFR testing provides insight into an individual’s specific methylation and enzymatic pathways, and can provide a roadmap to improving methylation and detoxification.
MTHFR has a significant effect on the production of BH4 (tetrahydrobiopterin). BH4 is a cofactor in the production of neurotransmitters such as epinephrine, serotonin, L-Dopa, melatonin, etc. A deficiency of BH4 may affect the cardiovascular and neurological systems as well as emotional wellbeing.
The sooner one is tested, the sooner it is possible to reveal an individual’s specific mutation and determine appropriate treatment.
Pyroluria Testing
The name Pyroluria is used to designate an overproduction of pyrroles in the body. A pyrrole is a chemical consisting of a 5 membered aromatic ring, produced as a byproduct of hemoglobin synthesis. Pyrroles have no known function in the body and most people have very few present in their system. However, certain individuals have an abnormally high level of pyrroles. This condition is called Pyroluria. Testing for Pyroluria requires a simple urine sample. Readily binding to zinc and vitamin B6, pyrroles are excreted by the body in the urine, leaching zinc and B6 to low levels. Pyroluria has been linked to many issues, including depression, anxiety, ADHD, bipolar disorder, behavioural instability and even schizophrenia. The symptoms of Pyroluria can be misdiagnosed for other illnesses, leading to inappropriate and ineffective treatment.
Pyroluria is treated with nutritional supplementation, not pharmaceuticals, replacing the zinc and B6 that is leached out of the body. Restoring this crucial chemical balance can provide remarkable progress and relief of symptoms that might not be otherwise achieved.
