Name of the Procedure:

CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) Gene Analysis; Intron 8 Poly-T Analysis

Summary

This test examines a specific region (intron 8) of the CFTR gene to check for variations in the poly-T sequence. These variations are linked to conditions such as cystic fibrosis and certain forms of male infertility.

Purpose

Medical Condition or Problem Addressed:

• Cystic fibrosis
• Male infertility related to CFTR gene mutations

Goals or Expected Outcomes:

• Identify specific genetic variations that may contribute to cystic fibrosis or male infertility.
• Provide information for diagnosis, management, and family planning.

Indications

• Symptoms of cystic fibrosis, such as chronic respiratory issues or digestive problems.
• Unexplained male infertility with a suspected genetic component.
• Family history of cystic fibrosis.

Preparation

• No specific preparation like fasting or medication adjustments required.
• A blood sample or a cheek swab (buccal swab) will be collected for the test.
• Inform the healthcare provider of any genetic testing history.

Procedure Description

• Sample Collection: A healthcare professional will collect a sample of blood or cells from the inside of the cheek.
• Laboratory Analysis: The sample is sent to a lab where DNA is extracted and the CFTR gene's intron 8 region is specifically analyzed for the number of thymidine (T) repeats.
• Tools and Equipment: Standard laboratory equipment for DNA extraction and PCR (polymerase chain reaction) sequencing.
• No anesthesia or sedation is required as the procedure is non-invasive.

Duration

• Sample collection: Approximately 5-10 minutes.
• Laboratory analysis: Several days to weeks, depending on the lab.

Setting

• Typically performed in an outpatient setting such as a clinic or a lab.

Personnel

• Phlebotomist or nurse for sample collection.
• Geneticist or lab technician for DNA analysis.
• Genetic counselor for discussing results with the patient.

Risks and Complications

• Minimal risks related to blood draw such as bruising or light-headedness.
• No significant risks associated with the cheek swab.

Benefits

• Helps in confirming a diagnosis of cystic fibrosis or identifying the genetic cause of male infertility.
• Provides critical information for treatment and management.
• Aids in family planning and genetic counseling.

Recovery

• No recovery time needed from the sample collection procedure.
• Follow the healthcare provider’s instructions for any follow-up or next steps after results are obtained.

Alternatives

• Other genetic tests focusing on different mutations of the CFTR gene.
• Comprehensive genetic screening panels.
• Pros of alternatives: May cover a broader range of potential genetic causes.
• Cons of alternatives: More expensive and may take longer to obtain results.

Patient Experience

• During the procedure: Minor discomfort from blood draw or none from cheek swab.
• After the procedure: Patients generally feel normal and can immediately resume regular activities.
• Pain management and comfort measures: Not typically necessary due to the non-invasive nature of the sample collection.