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Genetics - CMA and WES - Microarray and Whole Exome

  • $5,000.00
  • $2,999.00

Why guess? When you can TEST! Children with developmental delays may have genetic influences which need to be identified to choose the best course of treatment. Our highest-quality genetic test will identify micro deletions and duplications (CMA / Microarray) and mutations (WES / Whole Exome Sequence). This test is NOT AVAILABLE internationally.

Your DNA is your cookbook, the recipe of your body. Problematic changes in DNA can affect childhood development. Identifying your child's genetics can identify genetics that can be treated, or rule out genetics as a cause of developmental delays. (Once you rule out a genetic problem, you never have to worry again!)Don't guess, when you can TEST!

Spectrum Awakening's Genetic CMA (Microarray) & WES (Whole Exome) Test can identify micro deletions, duplications, and mutations that can be contributing or causing developmental delays. This test is a cheek swab, similar to a Q-Tip and easy to collect. Your test results will come with an interpretation and supplement recommendations from Dr. Skowron.

Tags: Lab Tests

The prevalence of developmental delays has increased significantly over the past two decades. Recent research has shown that likely hundreds of genes play a role. Conducting genetic testing, including CMA and WES may make earlier diagnosis possible, even in the most challenging conditions. Exome testing is a well-established tool for diagnosing genetic conditions in situations where no targeted gene testing exists, or when targeted genetic testing has failed to identify the cause of disease. For many, a genetic diagnosis obviates the need for future diagnostic procedures or testing, and can inform treatment choices. Exome testing has been shown to be successful at identifying the genetic cause of conditions when patients have multiple congenital anomalies and/or neurodevelopmental disorders. Detection rates range from about 28.8% to as high as 57.5% for this patient population. Furthermore, in those with a genetic cause identified, 20.9% to 49% of patients had a change in their treatment based on the results.

This test does NOT analyze MTHFR and common SNPs. Those tests can be ordered with Spectrum Awakening's SNP Genetic Test. Follow all instructions in the test kit when you receive it. Approximately 8 weeks after sending the test sample to the lab, you will receive an email with your test results, along with a customized, individualized interpretation guide from Dr. Skowron. (Always consult your physician before making any changes to medications or supplements.)

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