Resources

Free Genetic Testing Resources

PATH4WARD Test

A no-charge genetic testing program, sponsored by X4 Pharmaceuticals, Inc. in partnership with Invitae. This test looks at 407 genes known to cause PIDs, including those causing neutropenia. Saliva or blood samples can be taken at your home or doctor’s office and mailed back to Invitae, and if you are tested through the program, you have access to free post-test genetic counseling.

Genetic testing is available in the US and Canada with the potential for expansion into other countries where third party genetic testing is permitted by local rules and regulations.

Genomic Answers for Kids

A national, first-of-its-kind pediatric data registry study called Genomic Answers for Kids launched by Children’s Mercy Research Institute. They are seeking children who may have a genetic condition or a genetic component to their symptoms and their families.

Participants will be given a next generation sequencing LDT (Lab Developed Test) genetic test (a simple blood test that can be taken at any lab across the country) and results will be shared with them.

The goal of the study is to facilitate the search for answers and novel treatments for pediatric genetic conditions.Learn More

Patient Advocacy Organizations

National Neutropenia Network

A US non-profit organization that promotes awareness, education and research, including a recent webinar on genetic testing. The organization also provides a support system for patients with severe chronic neutropenia and their families through a national resource network.

Jeffrey Modell Foundation

A non-profit organization devoted to early and precise diagnosis, meaningful treatments and ultimately cures of primary immunodeficiency. For patients and families, the organization serves as a community with resources and support.

The Immune Deficiency Foundation

A US non-profit organization that improves the diagnosis, treatment, and quality of life of people affected by primary immunodeficiency through fostering a community empowered by advocacy, education, and research. There are approximately 250,000 people who are diagnosed with primary immunodeficiencies in the US, and thousands more go undetected.

Other Genetic Testing Resources

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Jeffrey’s Insights

A genetic sequencing pilot program for Jeffrey Modell Centers Network (JMCN) for people suspected of having a primary immunodeficiency. A total of 21 sites within the JMCN were invited to participate. JMF collaborated with Invitae, and testing was comprised of Invitae’s Primary Immunodeficiency Panel. Contact Jeffrey Modell Foundation for more information.Contact

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Invitae

A medical genetics company that conducts next generation sequencing IVD (In-Vitro Diagnostic) genetic tests for PID. The Invitae test for PID (through the PATH4WARD program) looks at 407 genes and is available at no cost.

Their website includes information and videos for people who are interested in taking a genetic test.

National Society of Genetic Counselors

The professional society for genetic counselors. This website is for patients and contains information about genetic counselors, genetic testing and genetic conditions and a search locator to find a genetic counselor.

Genetics Home Reference

A consumer health website from the National Library of Medicine, which is part of the National Institutes of Health. The website provides information about the effects of genetic variation on health and includes lists and information about genes and genetic diseases.