Cystic Fibrosis

Cystic fibrosis is an inherited genetic disease that primarily affects the lungs and digestive system. It is caused by changes in the CFTR gene, which is responsible for regulating the balance of salts and fluids in the body.
When this gene does not function properly, the body produces very thick and sticky secretions, which can block the airways and interfere with the normal functioning of organs.

What is the Cystic Fibrosis test?
The test is a genetic analysis that identifies whether a person is a carrier of a mutation in the CFTR gene.
A carrier:

  • Has no symptoms
  • Is completely healthy
  • But can pass the gene on to their child

How is it inherited?
Cystic fibrosis is an autosomal recessive disease, which means:

  • If only one parent is a carrier → the child does not develop the disease
  • If both parents are carriers →
    • 25% chance that the child will be affected
    • 50% chance of being a carrier
    • 25% chance of having no mutation

Why is the test recommended?
The test is recommended to assess the risk before or during pregnancy.
It is recommended in the following cases:

  • Before planning a pregnancy
  • During pregnancy
  • For couples planning to have children
  • If there is a family history of cystic fibrosis
  • In cases of unexplained infertility

Why is it important?

  • Early identification of carriers helps with:
  • Assessing the risk to the child
  • Making informed decisions
  • Planning a safer pregnancy
  • Preventing unexpected surprises

How is the test performed? 

  • A blood sample is collected from the patient.
  • The DNA is analyzed to identify mutations in the CFTR gene.
  • The result is available within approximately 10 days. 

 

FAQs

01

What is Cystic Fibrosis and why should I be concerned about it?

 

Cystic fibrosis is a genetic disease that affects the lungs and digestive system. Even if you have no symptoms, you may be a carrier and could pass it on to your child.

02

How can I find out if I am a carrier?

 

The only way to find out is through a simple genetic test (blood test).

03

Who should take this test?

 
  • Couples planning a pregnancy
  • Pregnant women
  • People with a family history of the disease
  • Anyone who wants to know their genetic status
04

What happens if both partners are carriers?

 

There is a 25% chance that the child will be born with Cystic Fibrosis. In this case, genetic counseling and further testing options are recommended.

05

Is the test painful or dangerous?

 

No. It is a simple blood test with no risk to your health.

06

How long does it take to receive the results?

 

Results are usually available within 7–10 working days.

07

Can it be detected during pregnancy?

 

Yes. If both parents are carriers, prenatal tests can be performed to assess the condition of the fetus.

08

What are the benefits of testing?

 
  • Peace of mind
  • Safer family planning
  • Early detection and informed decision-making
09

Can I be a carrier without having any symptoms?

 

Yes. Most carriers have no signs or symptoms and do not know they are carriers without being tested.

10

How can I book the test?

 

You can contact us for information and an appointment, or visit our laboratory directly during working hours.

11

Do I need a doctor's referral?

 

Not necessarily. You can take the test without a referral, but genetic counseling is recommended.

12

Why choose Pentagene Genetics?

 

Because we offer advanced genetic testing, accurate results, and professional support at every step.