@athenalee I thing I will say this until its the only thing I can remember. It is this: Get a "Whole Genome 30x" analysis from a legitimate genetics lab such as Living DNA, Sequencing.com, Apollo, etc. Then have your doc or geneticist look to compare the reports with your symptoms and signs. Here is the point: If you or your doc think you have something that MIGHT be the result of a genetic defect or situation, look through the genes, probably with Genome Explorer or similar. If you do not have the gene or syndrome or variant for that particular symptom or sign, you are 99 44/100% certain you do not have that. But if you find even 1 or 2 mentions in your genome, it is worth checking further. If you find 5 or more, you had better look more carefully. The internet is filled with resources for this study. Human Phenotype Ontology; Online Mendelian Inheritance in Man; NORD; NCBI; etc etc. At this point, it looks as if your best bet is a good whole genome analysis and a strong geneticist or genetics firm such as Sequencing, Nebula, etc.

Jump to this post