CFTR (cystic fibrosis transmembrane conductance regulator) (eg, cystic fibrosis) gene analysis; intron 8 poly-T analysis (eg, male infertility)

CPT4 code

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.