Cystic Fibrosis (CF) affects approximately 30,000 children and adults in the United States, according to the Cystic Fibrosis Foundation. The disease occurs in one out of every 3,500 children born in the U.S. Common symptoms include chronic cough, recurrent lung infections leading to decreased pulmonary function, digestive problems due to insufficient pancreatic enzymes, elevated chloride levels in sweat, and poor growth.

We're also privileged to be able to contribute to improving the circumstances for current and future patients in three ways. First, our DNA testing services help make a precise diagnosis and determine the chance a disease might occur in the next generation. Secondly, our Genomic Services enable academic and pharmaceutical researchers to access the newest, most creative genetic technologies available. Lastly, we are actively involved with patient advocacy organizations through volunteering, fundraising, and projects. Ambry Genetics is unique in its commitment to fight genetic disease through involvement in all these areas.

Support Organizations

CysticFibrosis.com, founded in 1996, empowers online CF patients and care givers. Visit CysticFibrosis.com to connect with others sharing similar experiences; tell your stories, encourage one another, and seek hope.

The mission of the Cystic Fibrosis Foundation, a nonprofit donor-supported organization, is to assure the development of the means to cure and control cystic fibrosis and to improve the quality of life for those with the disease.

Cystic Fibrosis Research, Inc. (CFRI) connects CF resources with community needs. With over 35 years of service to the CF community, CFRI funds research, provides educational and personal support, and promotes awareness. CFRI envisions informing, engaging, and empowering the CF community to help all who have this challenging disease attain the highest possible quality of life.

Mauli Ola Foundation's (MOF) goals include promoting education and awareness of genetic diseases and increasing research. The MOF is a non-profit organization raising funds through social events to find natural treatments for children with genetic diseases, such as taking children with cystic fibrosis surfing. Check out the photos, stories, and the unique medical connection between surfing and Cystic Fibrosis at www.MauliOla.org.

Ambry Genetics Testing Information

CF is caused by mutations in the cystic fibrosis transmembrane regulatory (CFTR) gene.  More than 10 million Americans are asymptomatic carriers of a defective CFTR gene. Testing is available to confirm a suspected case of CF in a person with symptoms (diagnostic testing) or to screen an asymptomatic person for mutations that could be passed to a child (carrier testing). More information is available in the Patient Brochures, which can be viewed and printed from the bottom of this page, and from genetics professionals (see the Genetic Testing page).

Ambry Genetics is committed to the CF community and has unprecedented knowledge and experience with cystic fibrosis disease-causing mutations. The Ambry lab has analyzed the complete CF gene for more than 25,000 patient samples, providing the largest single-laboratory cystic fibrosis test database in the world from which to draw result interpretations. To date, we have reported more than 900 different mutations in our patients. Our test is capable of detecting over 99% of the 1,600+ known mutations, as well as potential new mutations. We accept blood, bloodspots, saliva, and prenatal samples. For more information about getting tested, see the To Get Tested page.