Testing for Cystic Fibrosis

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Sweat Test

The sweat test is the “gold standard” for diagnosing cystic fibrosis (CF). When it is performed by trained technicians and evaluated in an experienced, reliable laboratory, the sweat test is the best test to diagnose CF.

The Cystic Fibrosis Foundation (CFF) ensures that strict guidelines for sweat testing are followed at accredited care centers such as the Intermountain Cystic Fibrosis Center.

Primary Children’s Medical Center (PCMC) Outpatient Lab performs 1200 sweat tests annually and is staffed by trained technicians that pass periodic competency training.
PCMC Sweat testing

Primary Children's Outpatient Laboratory will perform sweat testing by appointment Monday through Friday from 7:00 a.m. to 4:00 p.m. and on Saturday from 9:00 a.m. to 2:00 p.m. Appointments are not available on Sundays or holidays. To schedule an appointment call Primary Children's Outpatient Laboratory at (801) 662.2122.

There are no restrictions on activity or diet or special preparations before the test. However, one should not apply creams or lotions to the skin 24 hours before the test.

To learn more about what happens during a sweat test go to the Cystic Fibrosis Foundation website: Sweat Test

Genetic Carrier Testing

More than 10 million Americans are symptomless carriers of the defective CF gene.

To have cystic fibrosis, a child must inherit one copy of the defective CF gene from each parent.

Genetic carrier testing can be used to tell if a person carries one or more mutations of the CF gene and how many copies of each mutation.

Each time two carriers of the CF gene have a child, the chances are:

• 25% the child will have CF;
• 50% the child will carry the CF gene but not have CF; and
• 25% the child will not carry the gene and not have CF.

There are more than 1,000 known mutations of the gene that causes CF. Current tests look for the most common mutations.

If you have a relative with CF or who is known to carry a mutation of the CF gene, your chances of carrying a mutation are greater because of your family’s history.

If you are pregnant or planning to have a child, you should discuss this test and the results with a health professional who is knowledgeable about genetic testing, such as a genetic counselor.

To learn more about genetic carrier testing go to the Cystic Fibrosis Foundation website: Genetic Carrier Testing

Newborn Screening

The Cystic Fibrosis Foundation (CFF) recommends that by 2010 all states routinely screen for cystic fibrosis (CF) in all newborns.

In Utah, during the 2008 Legislative session, a proposal to approve CF newborn screening will be addressed. If this proposal is approved an anticipated start date for CF newborn screening in Utah would be in 2009.

The State of Idaho began CF newborn screening in July of 2007. Wyoming and Colorado have had a screening program for more than a decade.

More than 10 million Americans are symptomless carriers of the defective gene that causes CF and most are not aware of a family history of the disease.

Early diagnosis and treatment can have an impact by:

• Improving growth
• Improving lung function
• Reducing hospital stays
• Adding years to life expectancy

To learn more about newborn screening go to the Cystic Fibrosis Foundation website: Newborn Screening