Name of the Procedure:

CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) Gene Analysis – Full Gene Sequence
Common name: CFTR Gene Sequencing
Technical term: Cystic Fibrosis Transmembrane Conductance Regulator Gene Analysis

Summary

CFTR gene analysis is a genetic test that sequences the entire CFTR gene to identify mutations. This analysis is crucial for diagnosing cystic fibrosis and other related conditions. The test typically involves taking a blood sample or a cheek swab.

Purpose

The primary purpose of CFTR gene sequencing is to diagnose cystic fibrosis and other conditions caused by mutations in the CFTR gene. The goals include identifying specific genetic mutations, which can guide treatment options and inform family planning.

Indications

• Chronic respiratory issues such as persistent cough, wheezing, and lung infections.
• Digestive problems, including pancreatitis, malnutrition, and frequent, greasy stools.
• Positive newborn screening test for cystic fibrosis.
• Family history of cystic fibrosis or known CFTR mutations.
• Recurrent respiratory infections or infertility issues, particularly in men.

Preparation

• Patients may be advised to avoid eating or drinking for a few hours before the test.
• Any ongoing medications should be discussed with the healthcare provider.
• No extensive preparation or fasting is usually required.
• The healthcare provider might perform a thorough medical history and physical examination prior to the test.

Procedure Description

1. Sample Collection: A blood sample is typically collected from a vein in the arm. Alternatively, a cheek swab may be used for DNA collection.
2. DNA Extraction: The DNA is extracted from the collected sample.
3. Sequencing: Utilizing high-throughput sequencing technology, the entire CFTR gene is sequenced to identify mutations.
4. Data Analysis: Bioinformatics tools are used to analyze the sequence data to detect any disease-causing mutations.

Duration

The sample collection itself takes about 15-30 minutes. However, obtaining the results can take several weeks due to the complexity of the sequencing and analysis.

Setting

Usually performed in a specialized laboratory setting, though the initial sample collection can be done at a hospital, outpatient clinic, or doctor’s office.

Personnel

• Geneticist or genetic counselor
• Laboratory technicians
• Phlebotomist or healthcare professional for sample collection
• Clinical pathologist for interpreting results

Risks and Complications

• Minimal risks associated with blood draw, such as slight pain, bruising, or infection at the puncture site.
• Rare risk of inconclusive or uncertain results, necessitating further testing.
• Psychological impact or anxiety related to genetic testing outcomes.

Benefits

• Accurate diagnosis of cystic fibrosis and identification of specific CFTR mutations.
• Informed treatment decisions and personalized care plans.
• Information for family planning and genetic counseling.
• Potential inclusion in clinical trials or targeted therapies.

Recovery

• No physical recovery is needed from the test itself.
• Patients may resume normal activities immediately after sample collection.
• Follow-up appointment with a healthcare provider to discuss test results and subsequent steps.

Alternatives

• Sweat Chloride Test: Measures the concentration of chloride in the sweat, less specific but non-invasive.
• CFTR Mutation Panel: Tests for common CFTR mutations but may miss rare ones, quicker and less expensive.

Pros and Cons of Alternatives:

• Sweat Chloride Test: Non-invasive but less definitive.
• CFTR Mutation Panel: Quicker results but may overlook rare mutations.

Patient Experience

• During the procedure, the patient may experience brief discomfort during blood draw or cheek swabbing.
• After the procedure, there might be slight bruising or sensitivity at the site of blood collection.
• Minimal to no discomfort after the cheek swab.
• Emotional preparedness for potential significant health information is essential.
• Support and counseling are recommended, especially if positive mutations are found.