Name of the Procedure:

Hereditary Peripheral Neuropathy Genomic Sequence Analysis Panel

• Common Names: Genetic Testing for Peripheral Neuropathy
• Technical Terms: Genomic Sequencing for Peripheral Neuropathy-Related Genes

Summary

This procedure involves genetic testing to analyze specific genes associated with hereditary peripheral neuropathies, such as Charcot-Marie-Tooth disease and spastic paraplegia. By sequencing at least five neuropathy-related genes, healthcare providers can identify genetic mutations that may be responsible for these conditions.

Purpose

This procedure is designed to diagnose hereditary peripheral neuropathies by identifying genetic mutations in specific genes. The goal is to provide a clear diagnosis that can help guide treatment and management plans, and, in some cases, inform family members about their genetic risk.

Indications

• Symptoms such as muscle weakness, numbness, and atrophy in the limbs.
• Family history of hereditary neuropathies.
• Patients with unexplained peripheral neuropathy after other causes have been ruled out.

Preparation

• No specific fasting or medication adjustments required.
• A detailed medical history and physical examination are conducted.
• Blood sample collection for DNA extraction.

Procedure Description

1. Blood is drawn from the patient.
2. DNA is extracted from the blood sample.
3. The DNA is sequenced to analyze specific genes related to peripheral neuropathy (e.g., BSCL2, GJB1, MFN2, MPZ, REEP1, SPAST, SPG11, SPTLC1).
4. Genetic analysis is performed to identify any mutations.
5. Results are interpreted by a geneticist or specialist.

Duration

The blood draw takes a few minutes, but the entire analysis process can take several weeks to complete.

Setting

The blood draw is usually performed in an outpatient clinic or laboratory. The DNA sequencing and analysis are conducted in a specialized genetic testing laboratory.

Personnel

• Phlebotomist or nurse for blood draw.
• Geneticists, lab technicians, and possibly a neurologist for result interpretation.

Risks and Complications

• Minimal risks associated with blood draw (e.g., minor bruising, infection).
• Rare possibility of a misinterpreted genetic result, which might necessitate further testing.

Benefits

• Provides a definitive diagnosis for hereditary peripheral neuropathies.
• Helps guide treatment and management.
• Informs patients and their families about genetic risks and inheritance patterns.

Recovery

• No significant recovery time required as this procedure is non-invasive.
• Resume normal activities immediately after the blood draw.
• Follow-up appointment with a genetic counselor or specialist to discuss results.

Alternatives

• Electromyography (EMG) and nerve conduction studies for functional diagnosis.
• Muscle or nerve biopsy for more detailed tissue analysis.
• Whole exome or whole genome sequencing for a broader analysis but at higher costs.

Patient Experience

• The blood draw may cause brief discomfort.
• During the wait for results, patients might experience anxiety; genetic counseling can provide support.
• Overall, the procedure is low-risk and straightforward, with minimal physical discomfort.