Name of the Procedure:

Molecular Cytogenetics: Interphase In Situ Hybridization (ISH) Analysis (100-300 Cells)

Summary

Interphase in situ hybridization (ISH) is a molecular cytogenetic technique used to visualize specific DNA sequences within cells. This procedure involves analyzing 100-300 cells to detect genetic abnormalities.

Purpose

The procedure is used to detect chromosomal abnormalities and genetic mutations that may cause diseases. It helps in diagnosing genetic disorders, cancers, and other medical conditions, providing crucial information for treatment planning.

Indications

• Suspicion of genetic disorders
• Diagnosis and prognosis of cancers
• Monitoring disease progression or response to treatment
• Prenatal diagnosis for chromosomal abnormalities
• Unexplained infertility or recurrent miscarriages

Preparation

• Patients may not need specific preparation for this test.
• A sample of cells (e.g., blood, amniotic fluid, tissue biopsy) is required.
• The healthcare provider will give instructions if any preparation is needed based on the sample type.

Procedure Description

1. A sample containing cells is collected from the patient.
2. The sample is processed and the cells are fixed on a slide.
3. Specific fluorescent probes are hybridized to the DNA within the nuclei of the cells.
4. The slide is examined under a fluorescence microscope to detect the binding of probes to the target DNA sequences.
5. Around 100-300 cells are analyzed to ensure robust results.

Duration

The analysis process typically takes a few hours, depending on the complexity and the number of cells examined.

Setting

This procedure is typically performed in a specialized laboratory with cytogenetic capabilities.

Personnel

• Molecular cytogeneticist
• Laboratory technologists
• Pathologists (for interpretation of results)

Risks and Complications

• Minimal risks involved as it is a laboratory technique.
• Rarely, sample handling errors could affect results.
• No direct risks to the patient as it involves analysis of already collected samples.

Benefits

• Provides detailed information on genetic abnormalities.
• Assists in accurate diagnosis and targeted treatment planning.
• Non-invasive procedure for the patient.

Recovery

• As this is a lab analysis of a sample, no recovery time is required for the patient.
• Normal activities can be resumed immediately after the sample collection, if any.

Alternatives

• Karyotyping: Provides a broader overview of chromosomal structure but with less resolution.
• Comparative Genomic Hybridization (CGH): Offers a wider range of genomic alterations but more expensive.
• Next-Generation Sequencing (NGS): Provides comprehensive genetic information but is costlier and more time-consuming.

Patient Experience

• The patient might need to provide a sample (e.g., blood draw, amniocentesis).
• Sample collection might have minor discomfort based on the method used.
• Minimal pain management required, focused on sample collection only.