Cytogenomic neoplasia (genome-wide) microarray analysis, interrogation of genomic regions for copy number and loss-of-heterozygosity variants for chromosomal abnormalities
CPT4 code
Name of the Procedure:
Cytogenomic Neoplasia (Genome-Wide) Microarray Analysis
Summary
Cytogenomic neoplasia microarray analysis is a laboratory procedure that uses advanced technology to examine your entire genome for changes in chromosome structure. This helps identify abnormalities, such as extra or missing pieces of chromosomes, and variations in the genetic code that may contribute to certain cancers or genetic disorders.
Purpose
This procedure aims to diagnose and understand genetic abnormalities that contribute to neoplastic conditions, like cancer. By identifying changes in chromosome structure and genetic material, doctors can determine the best treatment plan for managing and treating the underlying condition.
Indications
- Unexplained growths or tumors
- Family history of genetic disorders or cancer
- Abnormal results from other diagnostic tests (e.g., karyotyping or FISH)
- Symptoms suggesting chromosomal abnormalities, such as developmental delays, congenital anomalies, or unusual physical features
Preparation
- No specific preparation is usually needed.
- Patients may be advised to provide a blood or tissue sample.
- Inform the healthcare provider of any medications or supplements you are taking.
Procedure Description
- A small blood sample or tissue biopsy is collected from the patient.
- The sample is processed in the lab to extract DNA.
- The extracted DNA is applied to a microarray chip containing thousands of DNA probes.
- The chip is scanned to detect any variations in the genomic regions, focusing on copy number changes and loss-of-heterozygosity.
- The results are analyzed and interpreted by specialists to identify any chromosomal abnormalities.
Duration
The procedure itself (sample collection) takes about 15-30 minutes. Lab analysis and results interpretation can take 1-2 weeks.
Setting
The sample collection is typically performed in a clinic or outpatient setting. The actual analysis is conducted in a specialized laboratory.
Personnel
- Phlebotomist or nurse for sample collection
- Laboratory technician for sample preparation and DNA extraction
- Medical geneticist or pathologist for results interpretation
Risks and Complications
- Mild discomfort or bruising at the sample collection site
- Rare risks of infection at the puncture site
- Psychological impact of genetic results
Benefits
- Accurate diagnosis of chromosomal abnormalities
- Detailed information on genetic contributions to neoplastic conditions
- Personalized treatment plans based on genetic data
- Early detection of potential genetic disorders
Recovery
- No significant recovery period is required.
- Patients can resume normal activities immediately after sample collection.
- Follow-up consultation to discuss the results and treatment options.
Alternatives
- Traditional karyotyping
- Fluorescence in situ hybridization (FISH)
- Next-generation sequencing (NGS) Each alternative has its pros and cons regarding resolution, cost, and specific applications.
Patient Experience
- The blood or tissue sample collection might cause minor pain or discomfort.
- Patients usually experience little to no discomfort during and after the procedure.
- Emotional support may be necessary to cope with the results and their implications.