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Adult Cystic Fibrosis: Anyone had the Invitae Cystic Fibrosis Test?
Cystic fibrosis (CF) can occur in families without a known history of the disease, as both parents may be carriers of the CF gene without showing symptoms.
Cystic fibrosis can be diagnosed in older adults through a combination of clinical evaluation, sweat tests, and genetic testing to identify mutations in the CFTR gene. Symptoms may include chronic 'respiratory issues' and 'digestive problems', which 'can lead to a delayed diagnosis until adulthood'.
People who are more likely to have CF are people of Northern European descent who seem to be at the highest risk of having CF.
I am of Northern European descent.
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Common symptoms of adult onset Cystic Fibrosis that I have include:
respiratory infections
night sweats
joint and muscle pain
nasal polyps (a persistent stuffy or blocked nose)
difficulty gaining weight - I have a good appetite
constipation - Mirilax nightly
osteoporsis- Prolia injections
Fungal infections are common in individuals with cystic fibrosis, particularly in older adults.
2024 Bronchoscopy documented Candida
Cystic fibrosis (CF) can lead to various lung infections, including those caused by * Mycobacterium avium complex (MAC), which is commonly found in CF patients.
2023 Bronchoscopy documented Mycobacterium avium complex (MAC)
Cystic fibrosis can lead to complications such as pulmonary hypertension and right ventricular dysfunction, which may contribute to changes in the aorta, including dilation. - I have a dilated aorta
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I contacted the Cystic Fibrosis Foundation
The Cystic Fibrosis Foundation referred me to the Adult Cystic Fibrosis Center of Central Texas
The Adult Cystic Fibrosis Center of Central Texas doesn't offer the sweat test and genetic testing to identify mutations in the CFTR gene.
The Adult Cystic Fibrosis Center of Central Texas only offers Cystic Fibrosis retreatment.
The Adult Cystic Fibrosis Center of Central Texas referred me to my PCP or my Infectious Disease Specialist to order the sweat test and genetic testing to identify mutations in the CFTR gene.
Previously, I have received Connective Tissues Disordfers genetic testing through Invitae.
# 1. Invitae Cystic Fibrosis Test Test code: 04714 1 gene
or
# 2. Cystic Fibrosis, CFTR Gene, Variant Panel, Varies
This test includes targeted testing to evaluate over 500 genetic variants including 23 disease-causing
Has anyone received the Invitae Cystic Fibrosis Test?
If so is, is the # 1. 1 gene sufficient or is # 2. better because is tests over 500 genetic variants?
Thank you
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@vipp
I had the sweat test that was negative (can be a false negative in 2% of cases), followed by the genetic test that was also negative. My insurance covered both, possibly due to my cystic BE. But I don't think I was tested for all genetic mutations since I hear it's very costly. I will have to ask my doctor.
@vipp
excessive and productive cough of various colors
frequent lung infections including staph, pseudonomas , 3 x per year
MAC
body aches
have one 508DEL mutation
medium high but not quite high enough sweat chloride levels for the diagnosis of CF
low body weight
lethargy-fatigue
difficulty breathing
bronchiectasis
night sweats
constipation
osteopenia
when on trikafta clinical trial last year my sweat chlorides went way down and my quality of life improved 95% almost immediatly within 1 day .
when I went off the clinical trial trikafta I immediately had all of the symptoms come back, especially the excessive cough and green phlegm
nieces daughter has CF diagnosed as a baby.
I don't have the stomach issues related to the enzyme most cf patients have.
airway clearance takes so much time. I almost wonder some times if I would be better off not doing it, but then do realize it helps make mucus thinner to come up but then it comes up thorughout the day and not when I want it to come up.
full time job
@kathyjjb
Well who knows but my pulmo told me that Ambry's CF genetic screening that he ordered can detect over 99.9% of described mutations, including full gene sequencing and deletion/duplication analysis, which can detect the vast majority of mutations that cause cystic fibrosis in individuals. So chances are I do not have it. I do not have all the symptoms either... I imagine there is still much to discover with CF.
@irenea8
I'm not sure if I had the Ambry's test, something to ask. I really didn't think about it until my Dr mentioned I had a little cystic BE, but probably due to when I had an atypical form of pneumonia-which required 3.5 years of daily antibiotics. I imagine the same-still more to discover.
@mtyler can you get back on the trikafta? I so agree nebulizing and airway clearance is so time consuming. Somedays harder than others.
@kathyjjb
It is a very expensive test so you might know that way. Somehow mine got covered. I was told Medicare would not cover it so I am not sure how. It just kind of disappeared from all my billing records including medicare! Fine with me. 3.5 years daily is a long time. Wonder what the antibiotic was.
09/27/2025
cystic fibrosis "relationship" to allergic rhinitis
Cystic fibrosis can be associated with allergic rhinitis due to the chronic inflammation and mucus production in the airways, which may increase susceptibility to allergies. Individuals with cystic fibrosis often experience respiratory issues that can overlap with symptoms of allergic rhinitis.
Common symptoms of adult onset Cystic Fibrosis that I have include: allergic rhinitis, night sweats
I have chronic allergic rhinitis.
20 years ago, I received the Allergic rhinitis skin test and subsequently received allegery shots for 3 years.
3 years ago, I received the Allergic rhinitis skin test again and I have received allegery shots for the past 3 years.
I still experience post nasal drip intermittently, I cough up phlegm and have intermittent night sweats.
Some nights when laying down to sleep at night, I experience coughing up multiple sticky balls of saliva.
Do a lot of those diagnosed with Cystic Fibrosis have allergic rhinitis and receive allegery shots?
Thank you
No cystic fibrosis but bronchiectasis with chronic sinusitis, allergic rhinitis. I’m on my second round of allergy immunotherapy shots. A daily 24 hour allergy pill has made a significant difference in decreasing both mucus and coughing jags. wish I discovered it sooner.
@irenea8 I was treated by Dr Ellis at NJH, and the antibiotics were periodically switched up. Clarithromycin and Levaquin were 2 that I took. I can't remember the others. I had hundreds of nodules, and it was pretty scary.
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What is the 24 hour allergy pill?