Cystic Fibrosis

Cystic fibrosis (CF) is a genetic condition caused by changes in the CFTR gene that affect salt and water movement in glands and mucous membranes. It is inherited in an autosomal-recessive pattern. Testing may be used to screen carriersdiagnose CF, or monitor health in people with CF or CF-related conditions.

A practical approach pairs CFTR genetic testing (targeted mutation panels, full gene sequencing, and deletion/duplication analysis) with clinical testing such as the sweat chloride test (performed at specialized centers). Supportive labs—vitamins, liver and kidney function, glucose screening, and pancreatic function markers—help track overall health. Laboratory testing guides next steps but does not replace a clinician’s evaluation or care at a CF-experienced center.

Signs, Symptoms & Related Situations

  • Respiratory: chronic cough, wheeze, recurrent lung infections, nasal polyps, sinusitis, clubbing

  • Digestive/Pancreas: poor weight gain, greasy stools/steatorrhea, abdominal pain, pancreatic insufficiency

  • Electrolytes/Sweat: “salty” skin, dehydration risks in heat

  • Endocrine/Metabolic: CF-related diabetes (CFRD) in adolescence/adulthood

  • Reproductive: male infertility due to congenital bilateral absence of the vas deferens (CBAVD); female subfertility

  • Family history & newborns: positive newborn screen (elevated IRT), sibling with CF, or suggestive symptoms in infancy
    Seek urgent care for severe breathing difficulty, dehydration, or signs of serious infection.

Why These Tests Matter

What testing can do

  • Detect CFTR variants for carrier screening or diagnostic confirmation

  • Support diagnosis alongside sweat chloride testing and clinical evaluation

  • Monitor nutritional and organ health (fat-soluble vitamins, liver enzymes, glucose) over time

What testing cannot do

  • Diagnose CF from a single result without clinical context

  • Predict disease severity from genotype alone (expression varies)

  • Replace care at a CF-experienced center, including sweat testing and respiratory management

What These Tests Measure (at a glance)

  • CFTR Mutation Panel: screens for common pathogenic variants (e.g., ΔF508/F508del); useful for carrier screening and initial diagnostic work-ups. Caveat: a negative panel does not exclude rare variants.

  • CFTR Full Gene Sequencing + Deletion/Duplication: identifies rare variants and copy-number changes when the panel is negative or results are inconclusive.

  • Sweat Chloride Test (specialty center): measures chloride in sweat; ≥60 mmol/L is typically consistent with CF, 30–59 is intermediate, and lower values make CF less likely (age-specific interpretation applies).

  • Newborn Screening (state programs): IRT (immunoreactive trypsinogen) with DNA reflex panels; positive screens need confirmatory testing.

  • Pancreatic Function: fecal elastase to assess exocrine pancreatic insufficiency.

  • Nutritional Labs: fat-soluble vitamins (A, D, E, K), prealbumin/albuminiron studiesB12/folate.

  • Liver & Kidney: AST/ALT/ALP, GGT, bilirubincreatinine/eGFRelectrolytes.

  • Glucose Screening: A1c or oral glucose tolerance test (OGTT) for CFRD risk (per clinician).

  • Microbiology (clinic-based): sputum/throat cultures for pathogens (ordered through clinical care).

Diagnostic & Supportive Testing 

Category Typical tests Purpose
Genetic CFTR panel; sequencing; del/dup Carrier screen; diagnostic confirmation
Sweat test Sweat chloride (specialty center) Physiologic confirmation of CF
Pancreas Fecal elastase Detect pancreatic insufficiency
Nutrition Vitamins A/D/E/K; iron/B12/folate Identify and monitor deficiencies
Liver/Kidney CMP; GGT; bilirubin Monitor organ function
Glucose A1c or OGTT Screen for CF-related diabetes

How the Testing Process Works

  1. Start with the right question: carrier screening, diagnostic confirmation, or monitoring.

  2. Order CFTR testing: begin with a mutation panel; if negative or inconclusive with high suspicion, add full sequencing and deletion/duplication analysis.

  3. Confirm clinically: positive or suggestive results are typically followed by sweat chloride testing at a CF-experienced center.

  4. Add supportive labs: vitamins A/D/E/K, liver and kidney panels, iron studies, A1c or OGTT, and fecal elastase as directed.

  5. Review results: discuss with your clinician or a genetic counselor; coordinate care at a CF center when indicated.

Interpreting Results (General Guidance)

  • Two pathogenic CFTR variants on opposite chromosomes plus consistent clinical findings support a CF diagnosis; one variant indicates carrier status.

  • Variants of uncertain significance (VUS) may require family studies or functional data; do not over-interpret without expert input.

  • Sweat chloride in the intermediate range needs repeat testing and expanded genetic analysis.

  • Supportive labs guide nutrition and organ monitoring; trends over time matter more than single values.
    Always interpret genetic and clinical results with a qualified clinician and, when possible, a CF-experienced team.

Choosing Panels vs. Individual Tests

  • Carrier screening: CFTR mutation panel (consider ancestry-informed coverage).

  • Diagnostic work-up: panel → full sequencing → del/dup if suspicion remains.

  • Monitoring after diagnosis: periodic fat-soluble vitaminsliver panelA1c/OGTTiron studies, and fecal elastase as directed.

  • Family planning: offer partner testing and genetic counseling.

FAQs

What is the difference between carrier screening and diagnostic testing?
Carrier screening looks for common CFTR variants in people without symptoms; diagnostic testing investigates symptoms or abnormal newborn screens.

Can adults be diagnosed with CF?
Yes. Some people present later with milder symptoms or CF-related conditions (e.g., CBAVD).

If my CFTR panel is negative, could I still have CF?
It’s possible. Panels don’t detect all variants; full sequencing and deletion/duplication testing may be needed.

Do I still need a sweat test if I have two CFTR variants?
Usually yes. Sweat chloride provides physiologic confirmation and is part of standard diagnostic criteria.

What does a VUS mean?
variant of uncertain significance is not clearly harmful or benign. Further evaluation or time may be needed to clarify significance.

Does Ulta Lab Tests perform newborn screening?
State public health programs perform newborn screening. Abnormal results are followed by clinical and genetic testing.

Related Categories & Key Tests

  • Genetic Disorder Tests Hub

  • Carrier Screening • Congenital & Inherited Conditions • Pancreatic & GI Function • Respiratory Infection Panels • Women’s & Men’s Health (family planning)

  • CFTR Mutation Panel • CFTR Full Gene Sequencing • CFTR Deletion/Duplication • Sweat Chloride (specialty center) • Fecal Elastase • Vitamins A/D/E/K • Liver Panel • Iron Studies • A1c • OGTT

References

  • Cystic Fibrosis Foundation — Diagnostic guidelines and sweat testing standards.
  • American College of Medical Genetics and Genomics — CFTR variant interpretation and testing recommendations.
  • State Newborn Screening Programs — IRT/DNA algorithms for CF screening.
  • European Cystic Fibrosis Society — Standards of care and monitoring.
  • Nutritional management guidance for CF — fat-soluble vitamins and pancreatic insufficiency monitoring.
  • Consensus statements on CF-related diabetes screening and management.

Available Tests & Panels

Your Cystic Fibrosis Tests menu is pre-populated in the Ulta Lab Tests system. Select CFTR genetic testing (panel → sequencing → deletion/duplication) based on your question, and add supportive labs (vitamins A/D/E/K, liver panel, iron studies, A1c/OGTT, fecal elastase) as directed. Your clinician may refer you to a CF-experienced center for sweat chloride testing and comprehensive care.

Do you have a child you suspect may have cystic fibrosis?

Get the CFvantage Cystic Fibrosis Expanded Screen that is the most comprehensive test for diagnosing and monitoring patients with Cystic Fibrosis.

Cystic Fibrosis is a genetic disorder that affects the lungs and digestive system. It’s caused by mutations in the CFTR gene, which encodes a protein called cystic fibrosis transmembrane conductance regulator (CFTR). This protein controls the movement of salt and water across cells in the body. When this protein doesn’t work properly, it causes problems with breathing and digestion.

The CFvantage Cystic Fibrosis Expanded Screen is the most comprehensive test for diagnosing and monitoring patients with Cystic Fibrosis. This panel analyzes 155 mutations that have been proven to cause Cystic Fibrosis, including 23 mutations recommended by ACOG for screening of all childbearing age women. Order this test today!

If you suspect that your child may have cystic fibrosis, it’s essential to get tested as soon as possible. Early diagnosis can help ensure they receive proper treatment and care from an experienced specialist who can monitor their condition over time. With the right treatment plan in place, children diagnosed early enough are expected to live into their 30s or beyond. Don’t wait any longer – order this lab test today!

To get the proper test for your child, choose from the selections below.

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The Amylase Test measures amylase enzyme levels in blood to evaluate pancreatic and digestive health. Elevated amylase may indicate pancreatitis, gallbladder disease, intestinal blockage, or salivary gland disorders, while low levels may suggest chronic pancreatitis or liver damage. Doctors order this test to investigate abdominal pain, nausea, or fever. Results provide vital insight into pancreatic function, digestive disorders, and overall metabolic health.

Blood
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Also Known As: Amy Test

The Basic Metabolic Panel (BMP) Test measures eight markers, including glucose, calcium, sodium, potassium, chloride, carbon dioxide, BUN, and creatinine, to evaluate kidney function, blood sugar, and electrolyte balance. Doctors use this panel to detect diabetes, dehydration, and kidney disease, or to monitor treatment. It is commonly ordered in routine exams, emergency care, or pre-surgical testing to assess overall metabolic and organ health.

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Also Known As: BMP Test, Chemistry Panel, Chemistry Screen, Chem 7, Chem 11, SMA 7, SMAC7, Basic Metabolic Test, Chem Test, Chem Panel Test 

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The Complete Blood Count with Differential and Platelets Test is a comprehensive blood test that checks red blood cells, white blood cells, hemoglobin, hematocrit, and platelets. The differential analyzes types of white blood cells to detect infections, anemia, clotting abnormalities, immune conditions, and certain cancers. This essential test is often ordered for routine health exams, diagnosis, and monitoring treatment progress.

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Also Known As: CBC Test, CBC with Differential and Platelets Test, CBC w/Diff and Platelets Test, Full Blood Count Test, Complete Blood Count Test

The Comprehensive Metabolic Panel (CMP) Test measures 21 markers to assess metabolic health, liver and kidney function, and electrolyte balance. It includes glucose, calcium, sodium, potassium, chloride, CO2, albumin, globulin, A/G ratio, total protein, bilirubin, ALP, AST, ALT, BUN, creatinine, BUN/creatinine ratio, and eGFR. The CMP helps detect diabetes, liver or kidney disease, and supports routine screening and chronic condition monitoring.

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Also Known As: CMP Test, Chemistry Panel Test, Chem Test, Chem 21 Test, Chem 14 Test 

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The Glucose Test measures blood sugar levels to evaluate energy metabolism and screen for diabetes or prediabetes. Abnormal glucose may indicate hyperglycemia, hypoglycemia, or metabolic disorders. Doctors use this test during routine exams, to investigate symptoms like fatigue, excessive thirst, or frequent urination, and to monitor treatment for diabetes. It provides essential insight into how the body regulates blood sugar and overall metabolic health.

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Also Known As: Fasting Glucose Test, Fasting Blood Sugar Test

The Hemoglobin A1c (HbA1c) Test measures average blood glucose over 2–3 months by detecting sugar attached to hemoglobin in red blood cells. It is used to diagnose diabetes, identify prediabetes, and monitor long-term blood sugar control. Doctors rely on the HbA1c test to evaluate treatment effectiveness, guide adjustments, and assess risk for complications, making it essential for diabetes care and metabolic health screening.

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Also Known As: A1c Test, HbA1c Test, Glycated Hemoglobin Test

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The Lipase Test measures levels of lipase, an enzyme made by the pancreas that helps digest fats. Elevated lipase may indicate acute or chronic pancreatitis, pancreatic cancer, gallbladder disease, kidney failure, or bowel obstruction. Doctors order this test to investigate severe abdominal pain, nausea, or vomiting and to monitor pancreatic disorders. Results provide vital insight into digestive health, pancreatic function, and overall gastrointestinal balance.

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Also Known As: LPS Test

The Post-Vasectomy Spermatozoa Qualitative Test checks for the presence of sperm in semen after a vasectomy to confirm the success of the procedure. This post-vasectomy semen analysis is essential to ensure sterility, verify the effectiveness of surgery, and reduce the risk of unintended pregnancy. Doctors use this sperm test to confirm no live sperm remain, providing patients confidence in their vasectomy results and long-term reproductive planning.

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Also Known As: Semen Analysis, Spermatozoa Test, Post-Vasectomy Test, Semen Test

The Vitamin E Micronutrient Test measures blood levels of vitamin E to assess antioxidant status and detect deficiencies or excess. Vitamin E protects cells from oxidative damage, supports immune function, and promotes cardiovascular and neurological health. This test helps identify poor dietary intake, absorption issues, or toxicity from supplements, aiding in diagnosis and management of overall wellness.

Patient must be 18 years of age or older.
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Also Known As: Tocopherol Test

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The Vitamin E Test measures blood levels of vitamin E, a fat-soluble antioxidant essential for protecting cells, supporting immunity, and maintaining nerve and muscle health. Low levels may result from poor diet, malabsorption, or liver disease, leading to weakness or vision problems. High levels can occur with excessive supplementation. Doctors order this test to assess nutritional status, monitor chronic illness, or guide therapy for deficiency or toxicity.

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Also Known As: Tocopherol Test

More than 30,000 people live with Cystic Fibrosis (CF) in the United States, with almost 1,000 new cases diagnosed each year. If your doctor has recommended cystic fibrosis tests for you, it's understandable to feel apprehensive.

CF is a serious genetic condition with no cure. But the good news is treatments for cystic fibrosis have advanced a lot in recent years, and people are living longer than ever.

Cystic fibrosis isn't a condition to take lightly, and cystic fibrosis tests are a vital tool. Keep reading this guide to learn all you need to know about cystic fibrosis and the tests used to screen and diagnose this condition.

What is Cystic Fibrosis

Cystic fibrosis is a genetic disorder that mostly affects the respiratory and digestive systems. CF affects cells that produce digestive juices, mucus, and sweat for your body.

Cystic fibrosis is ultimately fatal, and there is no cure, but treatments have come a long way in extending people's lives.

You get cystic fibrosis by inheriting two defective copies of the CF gene from your parents. You can be a CF carrier if you have one of the faulty genes that cause CF but don't have CF or any symptoms.

Risk factors for Cystic Fibrosis

Since cystic fibrosis is genetic, your family history is the most significant risk factor. Also, CF is most common in white people with Northern European ancestry.

Complications of Cystic Fibrosis

Complications of CF usually affect your lungs, digestive system, and your reproductive organs. Complications include:

  • Chronic infections
  • Damaged airways
  • Growths inside of your nose
  • Collapsed lungs
  • Coughing up blood
  • Periods of severe symptoms

Eventually, CF can damage lung tissue so severely it won't work anymore, and finally, it becomes life-threatening. Respiratory failure is both the most common complication of CF and the common cause of death.

Since CF affects the digestive system too, people with CF often suffer from digestive system complications including:

  • Diabetes
  • Liver disease
  • Nutritional deficiencies
  • Intestinal blockages

Cystic fibrosis also causes reproductive system complications in both men and women. Most men with CF are infertile because the tube that connects to the testes is blocked with mucus. 

Women with CF tend to be less fertile than women without CF. Though it's still possible to get pregnant, women should be aware CF symptoms can worsen during pregnancy.

Other CF complications include osteoporosis, dehydration, electrolyte imbalances, depression, and anxiety.

Causes of Cystic Fibrosis

Cystic fibrosis is genetic and caused by errors in the CFTR gene. The CFTR gene is responsible for CFTR protein, and errors in this gene result in CFTR not being made or are malformed and can't function properly.

Bodily secretions such as mucus are usually thin, but a gene defect makes the secretions sticky and very thick with CF. The secretions become so thick that instead of acting like lubricants, they plug up essential tubes and passageways, causing CF symptoms.

There are over 1700 different cystic fibrosis gene mutations, and scientists have since developed a system to classify them based on their CFTR protein production problem.

Treatments for Cystic Fibrosis

Treatment for CF includes close monitoring and early intervention to slow CF progression. The treatment goals include preventing lung infections, removing mucus from the lungs, and ensuring adequate nutrition. Treatments include:

  • Medications to target gene mutations
  • Antibiotics and anti-inflammatories
  • Mucus thinning medications
  • Inhalers
  • Enzymes

CF also uses airway clearance techniques, pulmonary rehabilitation, and surgical procedures to improve breathing. CF treatment is complex, so it's best to find a center specialized in cystic fibrosis treatments. 

Signs and Symptoms of Cystic Fibrosis

Signs and symptoms of CF can vary, depending on the severity of the disease. Even in people already diagnosed with CF, individual symptoms can fluctuate over the years, worsening or improving. People not diagnosed as children usually have milder disease and milder symptoms.

Most cystic fibrosis symptoms affect your respiratory and digestive systems. You've probably heard that people with CF have trouble clearing their airways due to the thick and sticky mucus produced. Other respiratory symptoms include:

  • Constant cough with thick mucus
  • Wheezing
  • Frequent lung infections
  • Activity intolerance
  • Sinus infections
  • Nasal passage inflammation

The thick mucus produced in CF also blocks the tubes that take digestive enzymes from your pancreas to the small intestine. Because of this, your body isn't able to absorb the nutrients from food. Digestive symptoms include:

  • Greasy and bad-smelling stools
  • Poor growth in children
  • Underweight or poor weight gain
  • Severe constipation

Don't be afraid to talk to your doctor about any signs or symptoms you or a child is experiencing. Be sure to find a doctor that's knowledgeable about CF and is familiar with diagnosis and treatment.

Diagnosis of Cystic Fibrosis

Nowadays, the diagnosis of CF starts with newborn screening. All babies get a screening at birth in the US, but each state decides what tests are in the screening.  

Newborn screening is vital as a baby can be born with a serious health condition but, at first, seem perfectly healthy. Newborn screening detects severe health conditions that need early intervention and treatment to prevent future health problems.

All babies receive newborn screening in the US, and over 4 million babies get screened each year. The Department of Health and Human Services has a list of recommended health conditions to see all babies screened.

This list is the Recommended Uniform Screening Panel or RUSP. The RUSP includes 35 health conditions which include cystic fibrosis.

Next, if you're pregnant or thinking about starting a family, you'll be offered testing to see if you're a carrier of the CF gene. 

If you're an adult who wasn't tested at birth but had many CF symptoms, your doctor may send you for a blood test.  

Lab Testing for Cystic Fibrosis

If you're wondering who gets tested, it's anybody at risk for CF or anybody with ongoing CF symptoms. The American College of Obstetricians and Gynecologists recommends screening for all pregnant women.

Ulta Lab Tests offers comprehensive CF blood test panels to screen for CF. Standard blood tests include:

CF Gene Mutations Testing is used to screen for CF and determine if a person is a carrier. CF genetic testing checks for the 23 most common mutations. 

A Sweat Chloride Test measures the sweat from a person using a special procedure. The sweat of a person with CF can be five times saltier than usual. The sweat test is a gold standard, highly accurate, and often used in newborn screening.

Doctors also often order a complete blood count (CBC) and a comprehensive metabolic panel (CMP) to assess overall health and organ function.

Cystic Fibrosis FAQS 

The more you know about CF, the better you'll be able to handle everything along the way. It's good to know how far we've come in the fight against CF.

  • Before the 1950s, kids with CF rarely lived past five years
  • In the 1960s, medical advancements increased life expectancy
  • In the 1970s to 1990s, people began living to the age of 30
  • Today, people with CF live into their mid-40s
  • Over half of adults today with CF work full or part-time

Cystic Fibrosis Tests

Turn to Ulta Lab Tests for your cystic fibrosis tests. Ulta Lab Tests offers tests that are highly accurate and reliable so that you can make informed decisions about your health.

Our test results are secure and confidential at an affordable price, and you don't need insurance or a referral. 

Once you order one of our cystic fibrosis tests, you'll typically receive results in 24 to 48 hours. We care about our customers and guarantee you'll be satisfied.

It's time to reclaim your health. Take charge today by getting tested with Ulta Lab Tests.