What is the cost of a cystic fibrosis test?

Most countries now implement universal newborn screening tests for cystic fibrosis. This is the most standard and common test for cystic fibrosis. Typically, a nurse takes a very small sample of your infant's blood shortly after birth, while your infant is still in the hospital. This blood sample is then sent to a lab for a preliminary cystic fibrosis test. If the test comes back positive, a follow-up sweat test is performed to confirm the diagnosis of cystic fibrosis [source: CFF].

A newborn screening test for cystic fibrosis is very efficient and simple, which leads to relatively low costs per infant. Typically, the cost of this newborn screening is included in health care services in countries that have universal health care, such as in Canada. Moreover, most insurance companies in the United States cover the cost of this test, as well. This means, in most instances, a newborn screening test for cystic fibrosis is free for the parent. The cost of a newborn screening test for cystic fibrosis is comparable to other newborn genetic screening tests. The standard cystic fibrosis genetic screening test is only $1.50 (immunoreactive trypsinogen, or IRT screening). If this test is positive, further genetic testing is performed. The cost of a single mutation analysis for cystic fibrosis is about $20 and the cost of a multiple mutation analysis is around $50. Cystic fibrosis can result from over 1,000 mutations of one gene. Most cases of cystic fibrosis, however, are caused by a limited number of mutation variations.


Unfortunately, the cost of additional tests and lifelong treatments over the course of a cystic fibrosis patient's life pales in comparison to the cost of one genetic test in infancy. The average yearly cost for health care of someone with severe or advanced cystic fibrosis is about $43,300 [source: Lieu et al.].