Adult Cystic Fibrosis: Anyone had the Invitae Cystic Fibrosis Test?

< But it was negative.>

You had the CFTR 508 First Plus Reflex test but it was negative? So now you are receiving another genetic test?

I called the Cystic Fibrosis Foundation and Invitae and neither would give an opinion of which CFTR genetic test to request. They indicated it was up to the doctor.

09/24/2025

This is an addendum to my initial post above

Several days ago, when doing research I came upon Cystic Fibrosis and based upon my symptoms and radiology studies I decided to post my comments here.

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2021 my blood labs ordered by my Endocrinologist indicated my Glucose level flagged low at 57 mg/dL

My Endocrinologist ordered a 10 days glucose monitor placed on my lower abdomen.

Then my Endocrinologist ordered a Cortisol test that diagnosed me with Adrenal Insufficiency.

I recall within a hour or so after taking the Cortisol test how good I felt.

I had significant more energy and improved vision for about 4 hours until the affects wore off.

I have been taking a daily low dosage of Hydrocortisone since to manage my Adrenal Insufficiency.

My research

Cystic Fibrosis "relationship" to Adrenal Insufficiency

* Cystic fibrosis (CF) can lead to adrenal insufficiency, particularly due to chronic corticosteroid use in treatment* . This condition is one of the endocrine complications that can arise in CF patients, affecting their overall health and management.

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Currently I am in the process of arranging a Cystic Fibrosis Sweat Chloride Sweat Test 'which has been a challenge in itself' in order to rule in or out if I have Cystic Fibrosis.

My research

** The Cystic Fibrosis Sweat Chloride Sweat Test * should not be conducted if a patient is taking mineralocorticoids.

Mineralocorticoid is a corticosteroid hormone, which is synthesized by the adrenal cortex. Aldosterone, the main mineralocorticoid, is necessary for regulation of salt and water in the body.

Drugs used to treat Addison's Disease / Adrenal Insufficiency

Hydrocortisone is also used to replace steroids in people with adrenal insufficiency (decreased production of natural steroids by the adrenal glands).

* Hydrocortisone can potentially affect the results of a cystic fibrosis chloride sweat test *, as it may lower the chloride concentration in sweat, leading to * a false negative result *. It's important to consult with a doctor about any medications before undergoing the test. Therefore, it is crucial to inform the testing facility about any medications, including hydrocortisone, prior to the test.

Consultation: Discuss with your doctor whether to adjust or stop hydrocortisone before the test.

The patient must be hydrated. A couple days before your test, please be sure to drink plenty of water.

Patient should not use any lotions on their arms or legs within 24 hours of testing.

Patient should dress warmly by wearing a jacket/coat or blanket on the day of testing.

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* Does anyone diagnosed with Cystic Fibrosis have Addison's Disease / Adrenal Insufficiency as well?

Thank you

I only had the sweat test at a children's hospital (they will do them for adults). I don't know if my insurance would pay for the blood test since my sweat test was negative....

I would also be interested in the newest most comprehensive CF mutation testing and immunological genetic testing. I do have a F508del mutation and a 2nd unknown abnormal cf interpretation . These are from the ARUP Lab in Salt Lake City Utah. I also had the same findings from John Hopkins lab last year from Emory U where I was on Trikafta during a clinical trial, which proved highly effective for me. . My CF pulmonoloigst says I have A- Typical CF or syndrome as I have 95% of the symptoms of CF. I would also be interested in further testing as my Bronchiectasis pulmonologist cannot prescribe anything that my CF pulmonologist can prescribe. This has resulted in insurance coverage issues.

09/26/2025

< I would also be interested in the newest most comprehensive CF mutation testing and immunological genetic testing. I do have a F508del mutation and a 2nd unknown abnormal cf interpretation.>

Cystic Fibrosis Foundation website

There are five classes of CFTR mutations: protein production, protein processing, gating, conduction, and insufficient protein. The most common CF mutation, F508del, is primarily considered to be a protein processing mutation. CFTR modulators address various problems caused by different types of CFTR mutations.

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< My CF pulmonoloigst says I have A- Typical CF or syndrome as I have 95% of the symptoms of CF.>

If you don't mind me asking what are your Cystic Fibrosis symptoms?

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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

Some nights when laying down to sleep at night, I experience coughing up multiple sticky balls of saliva.

I intermittently cough up phlegm.

Fungal infections are common in individuals with cystic fibrosis, particularly in older adults.

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Another person responded to my symptoms with

< Your symptoms, with just a couple of exceptions, are almost identical to mine. I am 77 years old and was diagnosed as having CF just over 4 years ago.>

@tte

< I only had the sweat test at a children's hospital (they will do them for adults).>

Are you referring to the Dell Childrens Hospital Pulmonary Clinic in Austin, Texas?

< my sweat test was negative >

What Cystic Fibrosis symptoms do you have as well as chest image radiology reports that caused your doctor to order the CF Sweat Chloride Test?

< I don't know if my insurance would pay for the blood test>

Has anyone received a false negative CF Sweat Chloride Test, and was able to receive the CFTR mutations genetic test?

If so, was their CFTR mutations genetic test positive even though there CF Sweat Chloride Test was negative?

@mtyler
< My CF pulmonoloigst says I have A- Typical CF or syndrome as I have 95% of the symptoms of CF.>

If you don't mind me asking what are your Cystic Fibrosis symptoms?

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I had deleted the @mtyler in my first reply, see my reply below.

I am confused as to why Prolia shots for Osteopenia or Osteoarthritis are considered a symptom of Adult onset Cystic Fibrosis.

@tconz
09/27/2025

'Cystic fibrosis is associated with osteoporosis' due to 'several factors', 'including malabsorption of nutrients', 'chronic inflammation', and the effects of certain medications.

I was merely stating that several years ago, I was diagnosed with osteoporosis and I am being treated for osteoporosis with 6 month Prolia injections.

Two years ago, my Infection Disease Specialist referred me to a Hematologist / Oncologist

his Exam Notes

Plan: Weight loss. He does appear to 'have some element of malabsorption' but 'it does not seem to be Cancer related in anyway'.

I have difficulty gaining weight.

2023 consultation with a Dietician, RD. - We discussed my diet diary. She told me I was eating enough calories and I don't have malnutrition. She said she primarily treats diabetics and that she had never had a patient with my unexplained weight loss given I have a good appetite not a lack of appetite.

Also, I suffer from chronic inflammation in my the biceps, chest, calves, and feet.

Cystic fibrosis can lead to joint pain and inflammation, including in areas like the biceps, chest, calves, and feet, often due to associated conditions like arthritis or 'osteoarthropathy'.

@irenea8
I tested negative 7-8 years ago and my pulmonologist told me that there were over 3000 mutations. Due to the cost, I believe only about 900 are now tested. Maybe back then it was less? I have read that the sweat test can produce false negatives-so makes you wonder.
My sister died from asthma when she was 14 back in 1968, she was very petite-unlike all her siblings, and I think she may have had cystic fibrosis that was not diagnosed. She was very sick and was hospitalized for almost a year at NJH back in the 1960's.