Name of the Procedure:

CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) Gene Analysis, Known Familial Variants

Summary

CFTR gene analysis for known familial variants is a genetic test that identifies specific mutations in the CFTR gene, which are already known to be present in a patient's family. These mutations are linked to cystic fibrosis, a hereditary disease affecting the lungs, pancreas, and other organs.

Purpose

This procedure is designed to diagnose cystic fibrosis in individuals with a family history of the disease. The goal is to confirm if a person has inherited the known familial CFTR mutations, aiding in early diagnosis, management, and potential treatment of cystic fibrosis.

Indications

• A family history of cystic fibrosis.
• Presence of symptoms suggesting cystic fibrosis, such as chronic lung infections, poor growth, and digestive issues.
• Carrier screening for family planning.

Preparation

• No special preparation or fasting is typically required.
• A thorough medical history and review of familial genetic information.
• Pre-test counseling to discuss potential outcomes and implications.

Procedure Description

1. A blood sample or a buccal swab (cheek cell sample) is collected.
2. The sample is sent to a genetic laboratory.
3. Laboratory technicians extract DNA from the sample.
4. Specific regions of the CFTR gene are analyzed for known familial mutations using techniques like PCR (polymerase chain reaction) and sequencing.
5. Results are reviewed and interpreted by a genetic specialist.

Duration

The sample collection takes a few minutes. Laboratory analysis might take a few weeks.

Setting

Sample collection can be done in an outpatient clinic, physician’s office, or laboratory. The genetic analysis is conducted in a specialized laboratory.

Personnel

• Nurse or phlebotomist for sample collection.
• Laboratory technician or geneticist for DNA analysis.
• Genetic counselor or physician to discuss results.

Risks and Complications

• Minimal risks associated with blood draw, such as slight bruising or fainting.
• No direct risks from the genetic analysis itself.

Benefits

• Accurate early diagnosis of cystic fibrosis.
• Informed decision-making for family planning.
• Tailored management and treatment plans based on genetic information.

Recovery

• No recovery time needed.
• Normal activities can be resumed immediately after sample collection.
• Follow-up appointment to discuss the results and implications with a healthcare provider.

Alternatives

• General CFTR gene analysis without prior known familial variant information.
• Comprehensive gene panels for a broader range of genetic conditions.
• Carrier screening for both parents to assess the risk of passing on cystic fibrosis.

Patient Experience

• Minimal discomfort from sample collection.
• Anxiety or emotional impact due to genetic findings.
• Genetic counseling to provide support and help understand the results.