Name of the Procedure:

Fanconi Anemia, Complementation Group C (FANCC) Gene Analysis, Common Variant (e.g., IVS4+4A>T)

Summary

This procedure involves genetic testing to detect specific mutations in the FANCC gene associated with Fanconi anemia, an inherited blood disorder. The test focuses on common variants such as IVS4+4A>T.

Purpose

Fanconi anemia affects the body's ability to produce blood cells, leading to bone marrow failure, cancer susceptibility, and other health problems. The goal of this genetic analysis is to diagnose Fanconi anemia by identifying mutations in the FANCC gene, enabling targeted treatment and management strategies.

Indications

• Patients presenting with symptoms such as abnormal bruising or bleeding, frequent infections, or unexplained fatigue.
• Individuals with a family history of Fanconi anemia.
• Children with growth retardation, birth defects, or developmental delays.

Preparation

• No special fasting or medication adjustments are typically required.
• A blood sample or buccal swab (cheek cell sample) might be collected.
• A pre-test genetic counseling session is often recommended to understand the implications of the test results.

Procedure Description

1. A blood sample or buccal swab is collected from the patient.
2. The sample is sent to a laboratory specializing in genetic testing.
3. DNA is extracted from the sample and analyzed for the presence of specific FANCC gene mutations, including the common variant IVS4+4A>T.
4. Results are reviewed and interpreted by a geneticist, who will communicate the findings to the patient's healthcare provider.

Duration

• Sample collection: A few minutes.
• Laboratory analysis: Several days to a few weeks, depending on the lab's processing time.

Setting

• Sample collection can be done in a healthcare provider's office, a hospital, or an outpatient clinic.
• The actual genetic analysis is performed in a specialized laboratory.

Personnel

• Phlebotomists or nurses for sample collection.
• Geneticists and lab technicians for DNA analysis.
• Genetic counselors and physicians for interpreting results and providing patient guidance.

Risks and Complications

• Minimal risks are associated with blood or buccal swab collection, such as slight discomfort or bruising at the puncture site.
• Psychological impact from learning about a genetic predisposition to a serious disease.

Benefits

• Early and accurate diagnosis of Fanconi anemia, allowing for timely management.
• Informing family planning decisions for at-risk couples.
• Tailored treatment plans based on genetic findings.

Recovery

• No physical recovery needed post-sample collection.
• Psychological support or follow-up genetic counseling may be recommended based on test results.

Alternatives

• Other genetic tests might look for mutations in different genes associated with Fanconi anemia.
• Bone marrow biopsy or chromosomal breakage tests, though these are more invasive and broader in scope.

Patient Experience

• Mild discomfort during sample collection.
• Anxiety or relief associated with awaiting and receiving test results.
• Supportive services like genetic counseling can assist in understanding and coping with the findings.