CFTR (cystic fibrosis transmembrane conductance regulator) (eg, cystic fibrosis) gene analysis; known familial variants
CPT4 code
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
- A blood sample or a buccal swab (cheek cell sample) is collected.
- The sample is sent to a genetic laboratory.
- Laboratory technicians extract DNA from the sample.
- Specific regions of the CFTR gene are analyzed for known familial mutations using techniques like PCR (polymerase chain reaction) and sequencing.
- 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.