Why You Should Get Genetic Testing After An Autism Diagnosis!

Genetic Testing Can Assist In Eliminating Child Misdiagnosis

23andMe, Courtagen Exome Sequencing, and HealthCoach7  Providing Solutions


Dr. John Catanzaro



Autism Frequently Diagnosed

Over the last decade, I have found that Autism is one of the most frequently diagnosed childhood disorders I see. Many parents whose children I consult through HealthCoach7 have voiced concern over the diagnosis and are not sure as to whether the diagnosis is correct. Many of these kids are layered with OCD, ADD, ADHD, ODD, behavioral regression, neurological underdevelopment and other diagnoses. A stronger demand in genetic testing, as a tool to provide sure direction, has both contributed to the anxiety of this diagnosis and also offered some clearer criteria. These genetic tests are tools and if used incorrectly can add to the confusion instead of settling it. Thus, the reason for this article!

Complicated Disorder So Lets Be Sure

Autism is a complicated disorder; therefore, it requires intricate criteria and understanding. In my opinion, the diagnosis of Autism should be one of surety and based upon proven evidences over time. In other word, there may be other concerns that influence metabolism, neuro-hormonal equilibrium and internal system imbalances. There may be external exposures or challenges that impair favorable health changes. Some of these can include blood sugar imbalances, thyroid and adrenal functional disturbances and underlying nutrition concerns. These undetected impairments can cause chronic disturbances that can appear to support Autism diagnostic criteria not necessarily related at all. Autism, in these situations, can be the mask diagnosis, hiding the real cause of underlying system challenges, and when these layers are removed it is then discovered that diagnosis of Autism is in serious question.

Clarity in Genetic Testing

I want to provide some clarity in the difference between 23andMe and exome sequencing (Courtagen Neurological Development Sequencing). First, genetics should provide an architectural blueprint of guidance rather than just a medical diagnosis. In westernized medicine it’s all about the disease process and not the solution.  After evaluating numerous pieces of data through my work with HealthCoach7 I have discovered that genetic data provides a more direct approach to understanding the foundation of the difficulties seen in unclear diagnosis.

There are differences in the type of genetic data received in genetic testing. I want to provide some clarity for you.

23andMe: This form of genetic testing is evaluating nearly 1 million single nucleotide polymorphisms (SNP’s) on many genes that demonstrate particular variations that do not necessarily relate to functional disease, however, there is some relationship in influencing certain changes that may be involved in certain disease associations. Single nucleotide polymorphisms, generally, do not cause disease. They are known as typographical changes in DNA patterns on a particular gene pathway, (directly or indirectly) which may be associated with an affect on a particular adaptive mechanism. These adaptive mechanisms can either be beneficial or of consequence influencing the functional protein / proteins that a particular gene or set of genes control. This form of testing is known as genotyping, not exome sequencing.

This form of testing is very useful in revealing gene / snp association networking in controlling intricate functional system integration in human health. The rule of thumb I advise, gene/ snp relationships, as a network of controls that influence functional change in favor of better health, is more productive than trying to design treatments on single gene / snp variations. There is a string of gene / snp connections that may influence similar functions including mitochondrial energy patterns, transport of certain minerals, regulation of individual cell energy pathways, glucose transportation, hormonal imbalances (thyroid, adrenals, sex hormones) biochemical interaction, neurotransmitter disequilibrium, to name a few, if impaired cause fatigue, memory disturbances, mood disturbances, behavioral changes, neurological changes, enabling chronic inflammation, immune inefficiencies and protection against oxidative damage, etc.

 Finally, 23andMe gene / snp data is useful in revealing networked relational influence on certain variations and the possible implications and involvement in overall functional health. I have seen very favorable improvements /outcomes using this extremely valuable data in this way.

Exome Sequencing (Courtagen): Exome sequencing is used to genotype an individual for known variants or to identify variants that are unique to the individual. Courtagen uses sequencing to reveal known variants or modifying variations, which may be involved in functional disease expression. For example, Mitochondrial disorders are complex and have varying implications and can affect one or multiple systems of the body. Mitochondrial dysfunction depletes cells of energy causing cell damage and even cell death. Many mitochondrial disorders result from faulty protections against free radical related stress and oxidative metabolism, which leads to serious cell compromise.

Courtagen’s exome sequencing looks at both the nuclear related genes and mitochondrial genome specifically. There are over 1,000 proteins encoded in the nuclear genome that are imported into the mitochondria and are essential in keeping intact mitochondrial health. [2][3]

“Courtagen’s nucSEEK® test uses Next Generation Sequencing to detect variants in these nuclear genes. The analysis and interpretation of a patient’s nuclear mitochondrial exome is valuable for obtaining a definitive diagnosis, estimating prognosis, guiding treatment choices, and determining recurrence risks. Courtagen’s mtSEEK® test uses Next Generation Sequencing to sequence the 16,569 nucleotide bases that make up the 37 genes of the mitochondrial genome.”

Value in Both Forms of Testing

In my opinion, both genotyping (23andMe) and exome sequencing (Courtagen) are necessary to give a clear view of underlying variants (disturbances) that may indicate Autism as a diagnosis, or reveal other disturbances that are not associated with Autism. I use both sets of data heavily in my consults with HealthCoach7 and even when I see patients locally at Lakeview Family Wellness.  Some underlying metabolic imbalances, which include concerns in thyroid hormone metabolism that include cofactors that regulate this feedback can be significant in creating behavioral and sensory disturbances. Some of these cofactors include selenium, iodine and amino acid depletions that affect necessary conversion of the hormone.

I am going to give a case example for you to demonstrate the use of both 23andMe data andCourtagen’s sequencing data and their value in giving some very pointed treatment direction, otherwise not known without these genetic tests.

Case Study:

Young boy with some OCD and repetitive behavioral concerns was said to have Autism, however, this was not a concrete diagnosis. Upon review of both 23andMeand Courtagen genetic data the patterns and some key features are as follows to peel back the layers that may lead a doctor to think that Autism is a primary diagnosis:

23andMe (Single Nucleotide Polymorphisms):

  • APOA2 (Lipid Metabolism and Transport)
  • CA1 (Carbonic Anhydrase and Calcium Channel)
  • GAD1 (Glutamic Acid Metabolism)
  • HTR2C (Serotonin Metabolism)
  • MGAM (Carbohydrate Digestion)
  • MTHFD1 (Folate Metabolism and Methylation)
  • NDUFS7 / NDUFS8 (Mitochondrial and Cell Energy)
  • NPY2R (Circadian Controls)
  • PEMT (Choline Metabolism)
  • SELENBP1 (Selenium)
  • VDR (Vitamin D Receptor)

Courtagen Sequencing:

  • ACADS (Mitochondrial Fatty Acid and Beta-Oxidation)
  • ACLY (Acetylcholine and Choline Metabolism)
  • LRRK2 (Mitochondria and Antioxidant Protection)

Genes Reveal Key Factors

All of the above indications demonstrate key areas of mitochondrial function, cell energy metabolism and antioxidant defense need. These challenges can be seen in autistic spectrum. As it turns out, we have had thyroid concerns, blood sugar disturbances, fasting intolerance, higher need for selenium and choline. A treatment program combined the following Selenium, Phosphatidylcholine, CoQ10, NADH (both for mitochondrial support), Reduced Glutathione (antioxidant support), Carbohydrate Digestive Enzyme, NRF2 (inflammation), RelaxMax (excess brain glutamine), macro and micronutrient deficits and dietary adjustments. These collective metabolic imbalances have significantly created feedback disturbances that can create mood disorders like depression, anxiety, aggravated OCD and sensory sensitivities similar to what is seen in autistic spectrum. The treatment plan has addressed these key areas and this young boy has improved greatly.

Blueprint is Essential

To conclude, genetic testing gives a very essential blueprint in approaching complicated diagnosis. It is essential to be sure that vital metabolic areas of focus be considered before jumping to a final conclusion. In this case, thyroid metabolism, glucose and glycemic control, nutrient needs and antioxidant protection are major factors that were contributing to the symptom picture clarifying that autism was not a correct diagnosis. In addition, the same genetic testing can clarify the criteria in support of the diagnosis of autism, as well as, other surrounding system concerns as mentioned above. There are approximately 1,310 genes that are involved in the functional expression of autism. Exome sequencing can pointedly assist in focusing in on functional variants of the disorder and provide valuable guidance in developing a clinical plan.

Dr. John Catanzaro is currently accepting new patients at HealthCoach7 to help provide clarity using both of these genetic tests. If you would like to schedule your consult, please go to Http://www.HealthCoach7.com today to get started!

This article has been summarized.  To read the complete article written by Dr. Catanzaro, click here


[1] https://customercare.23andme.com/hc/en-us/articles/202904600-What-is-the-difference-between-genotyping-and-sequencing-

[2] http://www.courtagen.com/test-menu-genetic-test-nucseek.htm

[3] http://www.courtagen.com/test-menu-genetic-test-mtseek.htm




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