Name of the Procedure:

Chromosome Analysis; count 15-20 cells, 2 karyotypes, with banding

• Common Name: Chromosome Analysis
• Technical Term: Cytogenetic Analysis

Summary

In layman's terms, a chromosome analysis involves examining the chromosomes in a sample of cells to look for abnormalities. The test counts 15-20 cells and creates detailed images (karyotypes) of the chromosomes, which are enhanced with banding techniques for clearer visualization.

Purpose

The procedure is designed to identify genetic abnormalities that can cause various medical conditions. The primary goals are to diagnose genetic disorders, plan treatments, and provide genetic counseling.

Indications

• Unexplained developmental delays in children
• Congenital anomalies or physical malformations
• Infertility or recurrent miscarriages
• Family history of genetic disorders
• Certain types of cancers, for diagnosis and monitoring

Preparation

• No fasting or specific medication adjustments typically required.
• Blood sample will be drawn; follow any specific instructions from your doctor regarding medication or hydration.
• Inform your healthcare provider of any medications or supplements you are taking.

Procedure Description

1. A blood sample is drawn from the patient.
2. The sample is then cultured in a laboratory to encourage cell growth.
3. After sufficient growth, cells are harvested and treated to halt cell division at a stage where chromosomes are visible.
4. Chromosomes are stained using banding techniques to create a clear pattern.
5. 15-20 cells are counted, and 2 karyotypes (detailed chromosome images) are created and analyzed for abnormalities.

Tools and equipment:

• Microscope
• Culture media
• Chromosome banding chemicals

No anesthesia or sedation required.

Duration

The actual procedure of drawing the blood sample takes a few minutes. Laboratory processing and analysis typically take 1 to 2 weeks.

Setting

The blood sample can be collected in a healthcare provider's office, outpatient clinic, or hospital. The laboratory analysis is done in a specialized cytogenetics lab.

Personnel

• Phlebotomist or nurse for blood draw
• Cytogenetic technologist for laboratory processing
• Geneticist or specialist for interpreting results

Risks and Complications

• Minor risk of bruising, infection, or discomfort at the blood draw site.
• Rarely, an inadequate sample might require a repeat test.

Benefits

• Identification of chromosomal abnormalities that might explain certain conditions or symptoms.
• Information that helps in planning treatment or management of the condition.
• Genetic counseling and informed family planning choices.

Recovery

• No recovery time needed for the blood draw.
• Normal activities can be resumed immediately after the sample is collected.

Alternatives

• Genetic testing through microarray analysis or whole genome sequencing.
• Each alternative has different scopes and levels of detail, with varying costs and turnaround times.

Patient Experience

• Brief discomfort during the blood draw, similar to a regular blood test.
• Little to no pain post-procedure.
• Anxiety may be managed by discussing concerns with your healthcare provider beforehand.