Just recently on January 19, 2012, an article came out announcing that Ambry Genetics, a global leader in genetic services with a focus on clinical diagnostics and genomics, the successful completion of the first three diagnostic cases using its proprietary Clinical Diagnostic Exome™. Three individuals suffering from symptoms for which the cause could not be identified were successfully diagnosed. “This marks a pivotal moment for clinical diagnostics,” said Charles Dunlop, chief executive officer of Ambry Genetics. “A full diagnostic exome test with a high percentage of diagnosis is potentially a game changer for how clinicians approach diagnostics. Some of these families have been trying to figure out what was ailing their children for years, and we solved the riddle in weeks.
This is a portion of the email I received from our geneticist on Friday night at 11:30pm!!! Not only do we have THE BEST doctor in the world to take time away from her family to email us but we have hope for answers. Not only would the test results help other families in the same position but there are some amazing drugs that could potentially fix things. We have set up a fundraiser to seek help paying for this super duper expensive whole exome sequencing test. We are so grateful for any support in funding and promoting our cause. There is no donation too small! THANK YOU THANK YOU THANK YOU for everyone who has in interest in our story. The love from people has been such a blessing during this time of hardship.
If you haven't already read Ellie's story, start HERE at the beginning.
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