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Recommended Lab Tests in Down syndrome

Posted on March 21, 2016 at 9:40 PM

Recommended Lab Tests in Down syndrome

Dr. Elizabeth Hesse Sheehan DC QNCP CCN

Due to the nature of Down syndrome (a progressive disorder caused by the expression of various genes on the extra chromosome and the biochemical reactions that causes) appropriate management is critical. So much of not most of the issues in Down syndrome can be helped significantly with TNI (Targeted Nutritional Intervention). TNI allows us to support the various biochemical pathways that are being affected by T21. Lab test are a crucial and vital tool in the management of this disease. We have at our disposal several tools that allow us to not only assess various aspects of our biochemistry, but that also help us gauge the effectiveness of our treatments. This is a great gift in helping people with Down syndrome live lives that are more functional and fulfilled. This is a comprehensive list of different tests that are useful in Down syndrome management. Some of these tests can be run at your local lab (like Quest or Labcorp), and others will need to be ordered, as they are more specialized tests. Not all of these can be done or may need to be done at the same time. It depends on what is going on with your child, their age, etc. You might need to stagger some the blood tests. Basic Labs


* CBC w/ Differential- to check in immune status and screen for various anemias

* Chemistry Panel (including LDH, uric acid, phosphorous, iron panel(serum iron, ferritin, TIBC and % Saturation) along with the basic, electrolyte, liver, and kidney tests found in a chem panel)

* Thyroid panel (must include Free T3, Free T4, Reverse T3 as well as TSH- all 4 very important)

* Thyroid Antibodies (Anti Thyroglobulin, TSI, and TPO) need to be run at least once for screening

* DHEA-S and am Cortisol (collection for this test must be done 7-9 am)


This test can also be done via urine and saliva if needed. Nutrients


* Vitamin D 1, 25 OH and 25 OH- needs to be both in case there is an issue with Vitamin D receptors. If blood work is hard to get on your child- I do have Vitamin D blood spot kits available).

* RBC Mg (much more accurate than serum Mg)

* Celiac screening- if not been done. Very important in Down syndrome!


Other tests to add on or do at another time via regular labs


* RBC Copper

* RBC Zinc

* RBC Selenium (these are all important things to look at in Ds)

* Vitamin A

* Lipid panel

* Carnitine, serum

* IGF-1 (an way to monitor growth hormone, not the most specific, but will give you a general baseline- may require the real human growth hormone test which is quite a bit more intensive)

* Methylation Profile- the best test is from Doctors Data (a specialty lab, and can be done as a blood spot test!) which you can order from my office. Or ask your doctor to at least run homocysteine, to get an idea of what is going on with the SAM cycle due to the overexpressed CBS gene.

* Immunoglobunlin and IgG subclasses- especially if chronic immune issues

* T and B Lymphocyte Subset with NK 56- this test gives a more detailed look at immune system, and may be especially useful for those kids with TMD, leukemias and lymphomas.


Other Helpful Labs/ Specialty Labs These are lab tests that are very useful from a wholistic or biomedical/ functional medicine perspective. Most conventional medical doctors and pediatricians will not be familiar with them. I am happy to help you get these tests done for your child. Many of them are saliva or urine tests, and can be done separately from the blood tests. Please know that not all of these tests may be needed for your child! Work with your integrative doctor to determine which tests your child needs most at this time.


* 23andme from to get a comprehensive list of other snp mutations that might also need nutritional support, like the famous MTHFR snp.

* Oxidative Stress Analysis- Genova Diagnostics- oxidative stress is the culprit for most of the issues we see in Down syndrome. These test help to monitor this vital issue. and


* ONE- from Genova Diagnostics- is a urine test that gives you nutritional information on vitamin, mineral, antioxidant and amino acid status.


* OAT (Organic Acids Test) from various labs


This urine tests yields a variety of information from neurotransmitters, vitamins, yeast and bacterial infections, fatty acid metabolism, oxalate screening, and mitochondrial function.


* Heavy Metal Testing- from various labs, can be done via urine or hair- good to assess toxic metals and elements, which cause oxidative stress and damage tissues.


* Comprehensive Stool Analysis- ( various labs) especially if there are gut issues and a history of antibiotic usage.


* Food Allergy Testing (can be done as a bloodspot, from various labs


* Comprehensive Fatty Acid Testing


* Amino Acid testing- can easily be done via urine


Tests you can do at home!!!!!


* Electrolyte and Mineral Testing, and basic biochemistry buffers…we use the testing kits from SenseAble Supplements- these are simple taste/smell tests!

* Oxidata oxidative stress- a urine MDA (Malondialydehyde) test you can do yourself at home as another monitor of oxidative stress- kits are available from my office.

* Iodine Patch Test


Lab tests are a little scary, but overall very empowering. There is no reason why we can;t significantly affect the health of people with Down syndrome with proper diet, targeted nutritional and supplemental therapy based on their individual and specific biochemical needs. If you do not have a doctor who will work with you ordering tests, find a new one! Many doctors, like myself, will work with you via Skype and the phone. If insurance coverage for some of these tests is an issue, we can get many of them a significant reduction in cost by going through Blessings and Health to you! Dr. Elizabeth

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