Name of the Procedure:

BLM (Bloom syndrome, RecQ helicase-like) gene analysis, 2281del6ins7 variant

Summary

BLM gene analysis involves examining a specific genetic variant, 2281del6ins7, to determine if an individual has Bloom syndrome. This procedure analyzes a sample of DNA to detect mutations that may lead to this genetic disorder.

Purpose

This analysis is used to identify the presence of Bloom syndrome, a condition characterized by short stature, skin changes, and an increased risk of cancer. The goal is to provide a definitive diagnosis which can guide treatment and management of the condition.

Indications

• Individuals with a family history of Bloom syndrome.
• Presence of symptoms such as growth retardation, sun-sensitive skin changes, or an increased incidence of infections and cancers.
• Genetic counseling purposes for at-risk families.

Preparation

• No specific preparation is needed for a genetic test.
• Patients may be advised to provide a blood sample, buccal swab, or other tissue sample.
• Informed consent is typically required.

Procedure Description

1. Sample Collection: A healthcare professional collects a blood sample or buccal swab.
2. DNA Extraction: The DNA is isolated from the sample in a laboratory.
3. PCR Amplification: The region of the BLM gene including the 2281del6ins7 variant is amplified using polymerase chain reaction (PCR).
4. Sequencing/Testing: The amplified DNA is sequenced or undergoes another form of genetic testing to identify the presence of the 2281del6ins7 variant.
5. Analysis: The results are analyzed by a geneticist to confirm the presence or absence of the mutation.

Duration

Typically, the sample collection takes a few minutes, while the entire analysis process may take several days to weeks.

Setting

• Outpatient clinic or hospital for sample collection.
• Laboratory for DNA analysis.

Personnel

• Phlebotomist or nurse for sample collection.
• Laboratory technicians and geneticists for DNA analysis and interpretation.

Risks and Complications

• Minimal physical risk from sample collection (e.g., slight discomfort, bleeding, or bruising at the puncture site).
• Psychological impact of genetic results, including anxiety or distress.

Benefits

• Accurate diagnosis of Bloom syndrome.
• Information can guide treatment plans and preventive measures.
• Valuable data for family planning or genetic counseling.

Recovery

• No physical recovery needed from the sample collection procedure.
• Psychological support may be beneficial following the receipt of genetic results.

Alternatives

• Clinical diagnosis based on physical symptoms and family history.
• Other forms of genetic testing to detect different mutations within the BLM gene.

Patient Experience

• Minimal discomfort during sample collection.
• Waiting period for results can cause anxiety.
• Results discussion with a genetic counselor to understand implications and next steps.

Pain management and comfort measures are minimal as the procedure involves non-invasive or minimally invasive sample collection.