Name of the Procedure:

IDH2 (Isocitrate Dehydrogenase 2 [NADP+], Mitochondrial) Genetic Testing for Common Variants (e.g., R140W, R172W)

Summary

IDH2 genetic testing is a diagnostic procedure used to identify specific mutations in the IDH2 gene, such as the R140W and R172W variants. This gene plays a role in cellular metabolism, and mutations are commonly associated with certain types of cancer, including gliomas.

Purpose

The purpose of the IDH2 genetic test is to detect mutations in the IDH2 gene, which can help diagnose and classify gliomas. Identifying these mutations can guide treatment decisions and prognostic assessments.

Indications

• Patients with suspected or confirmed gliomas.
• Conditions where the presence of IDH2 mutations may influence treatment decisions.
• Suspected genetic predisposition to cancer.

Preparation

• No specific preparation is usually required.
• A blood sample or tissue biopsy will be taken for testing.
• Inform the healthcare provider of any medications being taken.

Procedure Description

1. A sample is collected, typically through a blood draw or tissue biopsy.
2. The sample is sent to a laboratory where DNA is extracted.
3. Advanced genetic testing techniques, such as PCR (Polymerase Chain Reaction) or sequencing, are used to analyze the IDH2 gene for mutations.
4. Results are analyzed and interpreted by a genetic specialist.

Duration

The sample collection takes a few minutes, while the analysis can take several days to a few weeks.

Setting

• Blood sample collection can be done in a clinic or hospital setting.
• Biopsy procedures are performed in hospitals or specialized surgical centers.

Personnel

• Phlebotomist for blood draw.
• Surgeon or radiologist for tissue biopsy.
• Geneticist or molecular pathologist for sample analysis and interpretation.

Risks and Complications

• Minimal risks associated with blood draw include bruising, bleeding, or infection at the puncture site.
• Biopsy may have higher risks depending on the location and method of tissue collection, such as infection or bleeding.

Benefits

• Accurate diagnosis and classification of gliomas.
• Informed treatment decisions based on genetic findings.
• Better prognosis and personalized treatment plans.

Recovery

• No recovery needed for blood draws.
• Biopsy recovery instructions vary; typically include wound care and activity restrictions.

Alternatives

• Imaging tests like MRI or CT scans for initial diagnosis.
• Other genetic tests or panels that include a broader range of genetic mutations.

Patient Experience

• Mild discomfort during blood draw or biopsy.
• Results discussion during a follow-up appointment with a healthcare provider.
• Management of anxiety related to diagnosis during and after the procedure.