DNA Direct: Your Genes in Context

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Testing for Genetic Disorders

Related Genetic Tests

Cystic Fibrosis

Includes a personalized report, a letter for your doctor, and toll-free support

Price: $260.00

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Our genetic experts can counsel you before and after testing.

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CYSTIC FIBROSIS

Who Should Consider Testing for Cystic Fibrosis?

Genetic testing for cystic fibrosis looks for the most common genetic changes (mutations) in the gene that causes cystic fibrosis (CF). Everyone has different reasons for testing for CF. Here are some reasons why you could benefit from knowing about your genes:

If you have a family history of cystic fibrosis.

Having a relative with CF significantly increases the risk of being a CF carrier.
The amount of risk depends on how closely you are related to that person:

Relative With CF	Your Carrier Risk
Parent or child	1 in 1 (100%)
Siblings	2 in 3 (67%)
Niece or nephew	1 in 2 (50%)
Aunt or uncle	1 in 3 (33%)
Cousin	1 in 4 (25%)

If you have cystic fibrosis but have never had genetic testing.

Many people with CF were diagnosed by a "sweat test" and not a DNA test.
Knowing if you have specific genetic changes related to CF can help you and your relatives with family planning decisions.

If you have had genetic testing for CF that looked for 25 or fewer mutations.

There are different "panels" for CF, each of which tests for a different number of gene mutations. It is standard to look for the 25 most common mutations.
Some labs, including DNA Direct, look for the 32 most common mutations plus a change that can cause infertility in some men and affect the severity of symptoms in people with CF.

If you are planning a pregnancy.

Professional medical groups including the NIH, ACUG, and ACOG recommend that CF carrier screening be offered to all couples who are planning a pregnancy or are currently pregnant.

If you are Caucasian (of European or Ashkenazi Jewish ancestry).

CF occurs in all ethnic groups, but the chance of being a CF carrier depends on ethnicity. People with European and Ashkenazi (Eastern European Jewish) ancestry have a higher chance of carrying a CF mutation than others.

Ethnicity	Carrier Risk
Caucasian (white, European ancestry)	1 in 25
Ashkenazi Jewish	1 in 25
Hispanic	1 in 46
African American	1 in 65
Asian	1 in 90

If you, your partner, or a male family member has been diagnosed with congenital bilateral absence of the vas deferens (CBAVD).

CBAVD is a condition that about 98 percent of men with CF are born with; it causes infertility.
CBAVD can also cause infertility in men who do not have the classic symptoms of CF.

If you or your partner has experienced infertility.

Genetic changes in the CF gene are found in 64 to 72 percent of men with CBAVD who do not have a diagnosis of CF.
19 percent of these men are actually found to have 2 genetic changes.
Women who have CF can also have reduced fertility and pregnancy complications, but they can bear children.

If you have a child or relative with unexplained breathing or digestive problems, chronic lung infections, chronic sinusitis, or poor growth.

CF is a chronic condition that affects many systems in the body.
Children with these symptoms are usually diagnosed by a doctor, but some children with mild symptoms may go undiagnosed.

If you want to know whether you carry a change related to one of the most common genetic conditions in the United States.

As many as 1 in 25 people is the United States is a CF carrier.
Carriers are at risk for having children with CF.
Family members of CF carriers are also at risk for having a child with CF.

If you are an adult with chronic sinusitis or frequent lung infections.

CF can vary in how severely it is expressed.
A small percentage of people are diagnosed with CF as late as adulthood due to more mild symptoms.

Knowing whether or not you are a CF carrier can help you make more informed choices about family planning and your personal health.

Knowing whether you have CF can help you make better healthcare decisions. It can help you better understand the risks for your family – present and future.

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