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Doctor insights on: Cystic Fibrosis Genetic Testing

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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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My husband 82 yr old grandpa was diagnosis w cystic fibrosis. Should i get my kids tested one is 2 1/2 and 5 1/2 or never had any genetic tests done?

My husband 82 yr old grandpa was diagnosis w cystic fibrosis. Should i get my kids tested one is 2 1/2 and 5 1/2 or never had any genetic tests done?

Doubt your Dx: There is a rare but different disease called fibrocystic disease of the lung.It has nothing at all to do with cystic fibrosis, which is evident in most kids in their first year.For one to live to 82 with the disease would likely be a world record. ...Read more

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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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During my preconception visit my dr. was really pushing genetic screening for before we start conceiving. We have no family history of genetic disorders and she said nothing stands out (other than cystic fibrosis since we are both Caucasian). ?

During my preconception visit my dr. was really pushing genetic screening for before we start conceiving.  We  have no family history of genetic disorders and she said nothing stands out (other than cystic fibrosis since we are both Caucasian). ?

See below: In addition to screening for cystic fibrosis, Indications for screening include,AMONG OTHERS, any one of the following:**A known or suspected hereditary disease in the patient or a family member; **Presence of birth defects, chromosomal abnormality, intellectual disability, developmental delay in a parent, a child, or the child of a family member**Ashkenazi Jewish ethnicity ...Read more

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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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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

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When did newborn testing for cystic fibrosis start?

When did newborn testing for cystic fibrosis start?

Depends on where: Newborn blood screening programs vary from state to state. In California, screening all newborns began around 2007. However, there probably were earlier pilot programs to test different screening methods to see which method would work the best. That means some babies were probably getting screened before 2007. Of course, babies born at home without medical care might miss getting screened. ...Read more

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Can you test positive for 2 mutations of cystic fibrosis on one copy of a gene? I am 43 and have 2 mutations and they are testing my mother.

Can you test positive for 2 mutations of cystic fibrosis on one copy of a gene? I am 43 and have 2 mutations and they are testing my mother.

Cystic Fibrosis: It is possible to have multiple mutations for cystic fibrosis on one copy of a gene. There are more than 1700 mutations of the cystic fibrosis gene. More about cystic fibrosis genetics via the Cystic Fibrosis Foundation: https://www.cff.org/What-is-CF/CF-Genetics/ ...Read more

Dr. John Fung Dr. Fung
5 doctors agreed:
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My son has hirschsprung disease. My wife tested neg. for cystic fibrosis. Are the two related? Should I be tested for CF? I'm 32 w/no issues.

Dr. John Fung Dr. Fung
5 doctors agreed:
My son has hirschsprung disease. My wife tested neg. for cystic fibrosis. Are the two related? Should I be tested for CF? I'm 32 w/no issues.

No, not related: Hirschsprung's disease is a congenital condition that leads to absence or lower numbers of nerve cells in the large intestine that are responsible for allowing the colon muscles to function, leading to constipation or inability to pass stool. Cystic fibrosis is an inherited recessive disorder of salt transport leading to thickened secretions. If your wife is negative, no need for you to be tested ...Read more

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Can men with atypical cystic fibrosis have children? I have 2 children, I have no symptoms of CF and I am 32 years old. Never tested for CF.

Can men with atypical cystic fibrosis have children? I have 2 children, I have no symptoms of CF and I am 32 years old. Never tested for CF.

Sometimes: Actually, there are several different reasons that men with classic cystic fibrosis tend to be infertile; CFTR is part of the molecular machinery of spermatogenesis. It depends on your mutation. I'm wondering what you're worried about. Best wishes. ...Read more

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Due to poor weight gain, developmental delays, sweating - my nephew is being tested for cystic fibrosis- how long does one live with this?

Cystic fibrosis: Highly variable and dependent upon whether there is complete penetrance, the management, and so on. These days have seen CF patients live much much longer than previously and with new therapies developing they may be quite treatable. ...Read more

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Can someone be diagnose with cystic fibrosis in their 40's?

As a carrier: Genetic carrier testing: more than 10 million americans are symptomless carriers of the defective CF gene. This blood test can help detect carriers, who could pass CF onto their children. To have cystic fibrosis, a child must inherit one copy of the defective CF gene from each parent. ...Read more

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How can cystic fibrosis affect p.I.E.S development?

Certainly: Cystic Fibrosis (CF) most common life-limiting genetic disorder of Caucasians, affecting approximately 30K people in the US.A, impacting mainly respiratory function. In recent years patients symptoms better controlled by genetic findings and better medications.Emotional & phys. development depend on severity, time in hospital, complications.Morb. & mort.factors afect emotional,cognitive behavior. ...Read more

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I have symptoms of cystic fibrosis. Is it possible to start show the symptoms in my 30's?

Yes: Yes it is possible. Presentation of cystic fibrosis varies greatly, and it is possible, depending on your specific mutation (and other factors) to present at a later age. In order to prevent late diagnoses, all states now have a newborn screen in place for cystic fibrosis. ...Read more

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Could a 49 year old develop cystic fibrosis?

Yes and No: Patients are born with cystic fibrosis. However it can take many years for the disease to become apparent in some patients. Thus, it is possible to be diagnosed with CF later in life but not to develop CF later in life. ...Read more

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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