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Genetic Testing Stories

Little was known about 10 year old other than he had "something genetic"

Posted by GeneDx on Jun 18, 2018 9:49:33 AM

Thank you for the opportunity to introduce you to a child adopted from an Chinese orphanage by an exceptional family in January 2018. Little was known about this 10 year old other than he had "something genetic" per the orphanage and weighed 16 pounds on his "gotcha day" to quote mother. Certainly to me he was an unknown, reminding me of progeria,: fortunately I have not seen kernicterus but this child reminded others who had. An MRI was obtained with no diagnosis other than white matter disease while the buccal swab was "incubating" at GeneDx. A lumbar puncture was the next diagnostic evaluation until I was able to share the diagnosis of Perlizaeus Merzbache Disease.

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Tags: Genetic Testing

Quick Diagnosis

Posted by GeneDx on Jun 13, 2018 1:33:20 PM

rapid exome to provide a quick diagnosis helped greatly

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Tags: Genetic Testing

After losing 2 children, the thought of losing another was terrifying.

Posted by GeneDx on Jun 12, 2018 7:34:07 PM

I had a family who lost two children in the perinatal period, both with hydrops secondary to cardiomyopathy. With no living children, it was a heartbreaking journey for them and terrifying to contemplate attempting pregnancy again.

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Tags: Genetic Testing

Important information for herself and her multiple young children.

Posted by GeneDx on Jun 12, 2018 1:39:31 PM

My patient had a strong family history of breast and ovarian cancer and was encouraged by her mother to pursue genetic testing prior to her mother's death. My patient didn't pursue testing until she herself was diagnosed with ovarian cancer at a young age. When she finally came in for testing she was found to be BRCA positive and learned there was an explanation for the many young cancers in her family. This test result gave her the knowledge and power to take her health into her own hands. She was able to get through her ovarian cancer treatment and move on to her breast health. She now has important information for her multiple young children when they get older and hopefully the family cycle of young deaths due to cancers will end.

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Tags: Genetic Testing

Genetic testing gave us an answer

Posted by GeneDx on Jun 12, 2018 1:11:09 PM

After a multitude of unsuccessful tests on my beautiful son, Carter, the last option we had was genetic testing. We were so lucky that insurance covered us 100% and GeneDx was extremely easy to work with. We were told we would have results in 90 days and we did, not even a day longer. Genetic testing gave us an answer we had been searching for since his birth and allowed us to find a small community to build our village. I am forever grateful.

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Tags: Genetic Testing

Searching for years for an answer

Posted by Anonymous on Jun 7, 2018 10:19:56 PM

The experience that impressed me the most was a family who had been searching for years for an answer to their daughter’s severe medical condition. They had brought her to specialists all over, and many, many tests had been done, including research studies and even whole genome sequencing, but they had hit a dead end until exome testing was sent to GeneDx. After a short time, the cause of the girl’s condition was found, and the family is now involved a new research study aimed at finding a possible treatment based on the underlying cause.

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Tags: Genetic Testing

At GeneDx, we are proud to have now performed over 100,000 Exomes and now we want to hear from you.   Tell us your patients' stories and how it has impacted your/your patients' health-related decisions.

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