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Doctor insights on: Genetic Test For Cystic Fibrosis

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Prenatal testing for cystic fibrosis available?

Prenatal testing for cystic fibrosis available?

Yes. Talk to OB.: Cystic fibrosis is an inherited genetic disorder. Prospective parents can be tested to see they are carriers and discuss with genetic counselor the chance of having child with CF if one/both are carriers. Post-conception testing is also available. Talk to your ob. Here's link for additional info: http://www.Acog.Org/~/media/for%20patients/faq171.Pdf?Dmc=1&ts=20120518t1505423920. ...Read more

Dr. Scott McLean
1,254 doctors shared insights

Genetic Testing (Definition)

Prenatal testing for genetic problems may be done before or after conception. Testing for spina bifida or Down syndrome is done after a pregnancy is established. Besides the couples listed above, counseling and diagnosis are also recommended for mothers over the age of 35, and those who have received abnormal screening test results, such as alpha-fetoprotein (AFP). For more information about the alpha-fetoprotein test, and when and why you might have it, see alpha-fetoprotein. For those who may be at risk, genetic counseling and prenatal diagnosis are used to help ...Read more


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Sweat chloride testing for cystic fibrosis=standard tests?

Sweat chloride testing for cystic fibrosis=standard tests?

Yes, Gold Standard: The gold standard for a diagnosis of CF is 2 back-to-back sweat chloride tests. However, the ability to run genetic tests and detect the disease in this fashion is becoming more common. In fact, it is now standard procedure in all 50 states for newborn babies to be screened, via blood from a heel prick, for cystic fibrosis. ...Read more

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What is a test for cystic fibrosis?

Genetic or sweat : Most cases these days are caught at birth by genetic screening tests; rarer forms can be detected by the sweat chloride test. A positive test is usually still confirmed by genetic testing. ...Read more

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Will cystic fibrosis mutation test detect Down syndrome during pregnancy?

Will cystic fibrosis mutation test detect Down syndrome during pregnancy?

Separate study: If you are having the one study done it is simple enough to arrange for the other study at the same time. They are separate tests and often done at a separate lab. ...Read more

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Why is CF called "cystic" and "fibrosis"?

Old Days: Back in the "old days, " patients with CF would frequently die, and the autopsy findings of the lungs showed scarring ("fibrosis") and bubbles ("cysts, " "cystic"). Thus, it was called cystic fibrosis. We know much more now about this disease, but the old name stuck. ...Read more

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Are idiopathic pulmonary fibrosis cystic fibrosis the same?

Are idiopathic pulmonary fibrosis cystic fibrosis the same?

No: Two completely different diseases. CF is an inherited disorder leading to failure to clear mucus and repeated infections. It does end up with fibrosis in the lungs. Idiopathic fibrosis is a disease of unknown cause where scar tissue replaces normal lung and eventually causes respiratory failure. ...Read more

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Is cystic fibrosis a dominant or recessive trait?

Recessive: One needs two defective copies of the cystic fibrosis to develop the disease. ...Read more

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Cystic fibrosis disease is carried by a recessive allele on which gene?

CFTR: Cystic fibrosis is caused by a mutation of the cftr gene, or cystic fibrosis transmembrane regulator, on chromosome 7. Cftr works as a chloride ion channel which helps to regulate chloride and sodium movement in your lungs and sweat ducts. ...Read more

Dr. Judy Orton Dr. Orton
10 doctors agreed:
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Is cystic fibrosis autosomal dominant in genetics?

Dr. Judy Orton Dr. Orton
10 doctors agreed:
Is cystic fibrosis autosomal dominant in genetics?

Recessive: Both parents must carry the gene with a 25% chance (1:4) with each conception that the baby will have cystic fibrosis. ...Read more

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In what way is cystic fibrosis inherited?

In what way is cystic fibrosis inherited?

CF is recessive: Cystic fibrosis is a disorder passed thru the genes of both parents, silent in the carrier parent & expressed in the affected kid who has inherited an affected gene from both parents.One mutation(delta 509) is the most common but others occur and variations in intensity do occur. I believe you can have carrier testing to see if u carry a gene, then avoid a starting a pregnancy with another carrier. ...Read more

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How can the cystic fibrosis gene affect tuberculosis?

How can the cystic fibrosis gene affect tuberculosis?

Lung Function: The gene itself will not affect tuberculosis. However, if an individual receives 2 recessive genes of the cftr mutation from their parents, they will develop cystic fibrosis (cf). Because CF can lead to repeated bacterial lung infections (among other things), the lungs would already be in a weakened state if exposed to the causative agent of tuberculosis. This might lead to faster disease onset. ...Read more

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Does gene therapy help a cystic fibrosis sufferer?

Does gene therapy help a cystic fibrosis sufferer?

Trials: Clinical trials for genetic therapy are underway. As of this time there is no approved method for gene tx in cf. Kalydeco, (ivacaftor) a new drug, dose reverse the effects of one subtype of cf, but it dose so by aiding the damaged sodium-chloride transporter to get in proper position and function normally. ...Read more

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Is pulmonary fibrosis genetic?

Is pulmonary fibrosis genetic?

Some are: Some families have multiple members who develop pulmonary fibrosis although sporadic cases are more common. The exact genetic inheritance is unknown. ...Read more

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How frequent are false positives on cystic fibrosis tests?

As high as 15%: The sweat chloride test is still the gold standard diagnostic test for cystic fibrosis. The accuracy of this test is highly dependent on the method used and the lab it is performed in. I only trust a result that is performed in a center that is certified by the cystic fibrosis foundation. Some reasons for false positives include: lab error, malnutrition, & eczema. ...Read more

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How typical are false positives on cystic fibrosis tests?

Not Typical: Certain rare conditions can also lead to high sweat chloride levels (the gold standard test for cystic fibrosis). However, these rare conditions (there's a list) will cause the patient to exhibit different symptoms than those consistent with cystic fibrosis, so the sweat chloride test is considered to be reliable in diagnosing CF in conjunction with the patient's history and physical exam. ...Read more

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What can be done for cystic fibrosis sufferers?

Supportive care: CF patients benefit from active coordinated care involving their pcp and a regional cystic fibrosis care center.These are usually part of a children's hospital and involve pediatric pulmonologists and other respiratory care specialists. ...Read more

Genetic (Definition)

From a medical standpoint, "genetic" refers to the potential heritability of various medical conditions. While some conditions are inevitable (at some point in one's life) as a consequence of simple genetic heritability (eg huntington's disease), a large number of medical conditions (including all behaviorial health disorders) are the expressed final pathway of a ...Read more


Dr. William Walsh
995 doctors shared insights

Cystic Fibrosis (Definition)

A genetic disorder of the lungs and digestive tract that causes repeated lung infections and inhibits ...Read more