Company Offers At-Home Genetic Testing for Rare Disease Patients



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Lukas Lange, PhD, CEO of Probably Genetic, discusses the company’s mission and its WHIM syndrome genetic testing program.

As Dr. Lange explains, the mission of Probably Genetic is to provide affordable genetic testing for the 200 million patients worldwide who have undiagnosed rare diseases. Dr. Lange was inspired by his graduate work in this area where he interacted with patients struggling to get a proper diagnosis for their rare genetic diseases.

The company offers a clinical-grade whole exome sequencing test which can detect genetic conditions caused by disease-causing variants occurring in exons. To avoid making these genetic tests prohibitively expensive for patients, Probably Genetic partners with pharmaceutical companies that are developing treatments for specific diseases. For example, Probably Genetic has recently secured funding to offer testing to people who fit the symptom profile for WHIM syndrome — a rare genetic immune deficiency — at no cost to these individuals.

For more information on WHIM syndrome, visit the WHIM Syndrome Learning Center at https://checkrare.com/whim-syndrome/.

To learn more about Probably Genetic and their at-home genetic testing options, visit https://www.probablygenetic.com/
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