Cheyanne Perry Suarez
December 6, 2022
SYNGAP1-related disorders describe a group of disorders caused by pathogenic mutations in the SYNGAP1 gene.
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Cheyanne Perry Suarez
July 25, 2022
Probably Genetic understands that our patients are concerned about their privacy. That is why keeping patient information confidential is our priority
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Cheyanne Perry Suarez
January 14, 2022
Probably Genetic is filled with gratitude as we reflect on what we have accomplished over the last twelve months—the relationships built, the knowledge gained, and even the mistakes made.
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Cheyanne Perry Suarez
February 19, 2022
Probably Genetic develops technology to find undiagnosed patients faster and provide them with genetic testing. The process begins with Probably Genetic’s online symptom checker.
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Cheyanne Perry Suarez
December 10, 2021
WHIM syndrome is an acronym that describes the distinctive characteristics of the condition: Warts, Hypogammaglobulinemia, Infection, and Myelokathexis.
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Cheyanne Perry Suarez
May 1, 2023
We are often asked, “What should I read or watch if I want to learn more about genomics, genetic diseases, and biotech?” Well, here’s our answer!
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Cheyanne Perry Suarez
April 9, 2022
"The fact that my life with a rare disease is too difficult a problem for doctors to solve within the allotted time constraints, and that my complexities detract from passion for medicine feels like the worst form of rejection."
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Cheyanne Perry Suarez
November 22, 2021
Lukas Lange, the CEO of Probably Genetic, had the opportunity to speak at the 2021 Virtual Research Conference hosted by the Kabuki Syndrome Foundation.
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Cheyanne Perry Suarez
November 22, 2021
Rare disease patients seek solace in social media connections.
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Gina Baker
November 5, 2021
A patient tells her story to raise awareness during Global Mitochondrial Disease Awareness week (September 19 - September 25, 2021).
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Lukas Lange
March 2, 2023
Which types of genetic tests are out there? Which types of genetic variation can be detected? Which factors are important for choosing the right provider?
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Dr. Harley Katz
November 2, 2021
There is substantial evidence that some fibromyalgia cases might have a genetic origin but the exact causes still remain unknown.
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Dr. Harley Katz
November 2, 2021
Comparing the DNA of the parents with their child makes it significantly easier to determine which variant is disease causing.
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Taylor Kane
November 2, 2021
Since most rare diseases are genetic, it is important to expand access to affordable genetic testing. Genetic testing helps provide answers to those struggling with unexplained symptoms.
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Dr. Harley Katz
November 2, 2021
“Since as early as 2013, the American College of Medical Genetics has recommended the use of genetic testing as a first-line tool for understanding the cause of Autism.”
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Taylor Kane
August 20, 2021
The rare disease community has a strong online presence, which allows patients and their families from all over the world to meet other people affected by rare diseases.
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