Name of the Procedure:

Nuclear encoded mitochondrial genes genomic sequence panel, including analysis of at least 100 genes such as BCS1L, C10orf2, COQ2, COX10, DGUOK, MPV17, OPA1, PDSS2, POLG, POLG2, RRM2B, SCO1, SCO2, SLC25A4, etc.

Summary

This genomic sequence panel involves analyzing at least 100 specific nuclear-encoded mitochondrial genes to identify potential genetic mutations that may cause neurological or myopathic conditions. This test helps in diagnosing and understanding genetic disorders that impact the mitochondria, the energy-producing components of cells.

Purpose

The procedure aims to pinpoint genetic mutations responsible for mitochondrial diseases that manifest as neurological or muscular disorders. The expected outcome is an accurate diagnosis, which can guide treatment decisions and management strategies.

Indications

• Patients presenting with symptoms of mitochondrial dysfunction such as chronic fatigue, muscle weakness, neurological deficits, or organ dysfunction.
• Individuals with a family history of mitochondrial diseases.
• Patients with unexplained metabolic disorders.

Preparation

• No special preparation is typically necessary for this genomic test.
• Patients should inform their healthcare provider about any medications or supplements they are taking.
• A simple blood draw is usually required to obtain the DNA sample.

Procedure Description

1. A blood sample is collected from the patient.
2. The DNA is extracted from the blood cells.
3. Next-generation sequencing technology is used to analyze the DNA, focusing on at least 100 nuclear-encoded mitochondrial genes.
4. Bioinformatics tools process the sequencing data to identify genetic mutations.
5. A medical geneticist interprets the findings and provides a detailed report.

Duration

The procedure itself, which involves collecting the blood sample, takes about 15 minutes. However, the analysis and interpretation of the genomic data may take several weeks.

Setting

The blood sample can be collected in a healthcare provider’s office, outpatient clinic, or hospital. The genetic sequencing and analysis are performed in a specialized laboratory.

Personnel

• Phlebotomist or nurse for blood sample collection.
• Medical laboratory technicians and geneticists for sample processing and analysis.
• Medical geneticists to interpret and report findings.

Risks and Complications

• Minor discomfort or bruising at the blood draw site.
• Rarely, dizziness or fainting during the blood draw.
• No significant risks associated with the genomic sequencing itself.

Benefits

• Provides a definitive diagnosis for patients with suspected mitochondrial disorders.
• Helps in tailoring specific treatment plans.
• Facilitates genetic counseling and risk assessment for family members.

Recovery

• No recovery time is needed from the blood draw.
• Patients can resume normal activities immediately.
• Follow-up consultation to discuss the results and implications.

Alternatives

• Single gene tests or smaller gene panels if a specific mitochondrial disorder is strongly suspected.
• Clinical evaluations and biochemical tests to assess mitochondrial function.
• Muscle biopsy for direct analysis of mitochondrial morphology and function.

Patient Experience

During the procedure, the patient may experience a brief pinch or discomfort from the blood draw. Post-procedure, there are generally no side effects, and the patient can proceed with their usual routine. If any discomfort occurs at the draw site, over-the-counter pain relievers and cold compresses can offer relief.