Name of the Procedure:

CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) Gene Analysis; Duplication/Deletion Variants

Summary

This procedure is a genetic test that identifies duplications and deletions in the CFTR gene, which are mutations associated with cystic fibrosis. The analysis helps in diagnosing cystic fibrosis or identifying carriers of the gene.

Purpose

The CFTR gene analysis is used to detect changes in the CFTR gene that cause cystic fibrosis. The goals are to confirm a diagnosis, determine carrier status, or predict the severity of the disease, thus aiding in appropriate medical management and treatment planning.

Indications

• Persistent respiratory symptoms (chronic cough, wheezing)
• Recurring lung infections
• Failure to thrive or poor growth in infants
• Family history of cystic fibrosis
• Infertility in men
• Pancreatic insufficiency or malabsorption problems

Preparation

• Typically, no special preparation like fasting is required.
• Patients may be advised to provide family medical history.
• A pre-test genetic counseling session may be recommended to discuss potential results and implications.

Procedure Description

1. Sample Collection: A blood sample is usually collected from the patient.
2. DNA Extraction: DNA is extracted from the blood sample.
3. Genetic Testing: The DNA is analyzed for duplications and deletions in the CFTR gene using techniques such as multiplex ligation-dependent probe amplification (MLPA) or quantitative PCR.
4. Result Interpretation: A geneticist or laboratory specialist interprets the results to identify the presence of CFTR gene mutations.

Duration

The sample collection takes a few minutes. The analysis itself may take several days to a few weeks to complete, depending on the lab processing time.

Setting

The blood sample is typically collected in an outpatient clinic or a hospital setting. The genetic analysis is conducted in a specialized laboratory.

Personnel

• Phlebotomist or nurse for sample collection
• Geneticist or genetic counselor for interpretation and consultation
• Laboratory technicians and technologists for DNA analysis

Risks and Complications

• Minimal risk from blood draw, such as slight pain or bruising at the puncture site.
• Psychological impact of receiving genetic test results, including anxiety or stress.

Benefits

• Accurate diagnosis of cystic fibrosis or carrier status.
• Informed decision-making for medical and lifestyle choices.
• Better understanding of the disease for personalized treatment plans.

Recovery

• No physical recovery required as the procedure is non-invasive.
• Psychological support might be needed post-result, especially with a positive diagnosis or carrier discovery.

Alternatives

• Sweat chloride test: Measures the concentration of chloride in sweat, commonly used to diagnose cystic fibrosis.
• Pancreatic enzyme tests: Assesses digestive enzyme levels, which are often low in cystic fibrosis patients.
• CFTR sequencing: Another genetic test that looks for point mutations in the CFTR gene.

Patient Experience

• The patient may feel a small prick during the blood draw.
• Emotional responses post-result may vary; support and counseling can help manage stress or anxiety resulting from the test outcomes.