SYNGAP1-related disorders describe a group of disorders caused by pathogenic mutations in the SYNGAP1 gene.

Probably Genetic understands that our patients are concerned about their privacy. That is why keeping patient information confidential is our priority

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.

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.

WHIM syndrome is an acronym that describes the distinctive characteristics of the condition: Warts, Hypogammaglobulinemia, Infection, and Myelokathexis.

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!

"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."

Lukas Lange, the CEO of Probably Genetic, had the opportunity to speak at the 2021 Virtual Research Conference hosted by the Kabuki Syndrome Foundation.

Rare disease patients seek solace in social media connections.

A patient tells her story to raise awareness during Global Mitochondrial Disease Awareness week (September 19 - September 25, 2021).

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?

There is substantial evidence that some fibromyalgia cases might have a genetic origin but the exact causes still remain unknown.

Comparing the DNA of the parents with their child makes it significantly easier to determine which variant is disease causing.

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.

“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.”

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.