The amazing journey of a brave, fun-loving, creative boy who is enduring and has overcome so much already: failure to thrive, feeding tube dependency, food allergies, silent reflux, pulmonary valvar stenosis, chiari malformation, syringomyelia, retroflexed odontoid, mild bilateral hearing loss, a blood coagulation disorder, and Noonan Syndrome.
Tuesday, April 1, 2014
Whole Exome Sequencing
It's been a while since I last posted, but really we still have no answers. What's new is that we are new pursuing the genetics route. More and more tests are becoming available and we are going to be doing a whole exome sequencing. The blood test looks at the genes that interact with the protein in the body. Don't ask me how it works, it's complicated. According to the geneticist it is a broad test but it can tell us a lot. So, now we wait for authorization - apparently the test costs in the thousands. The blood is drawn from my son, me and my husband and sent overnight on ice to Texas - Baylor School of Medicine.
Labels:
genetics,
whole exome sequencing
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