Fluorescence In-Situ Hybridization (FISH)

FISH Testing Services at Jaipur Molecular Lab (JML)

Fluorescence In Situ Hybridization (FISH) is an advanced molecular technique that identifies specific DNA sequences on chromosomes. At Jaipur Molecular Lab (JML), FISH testing plays a crucial role in diagnosing genetic disorders, detecting chromosomal abnormalities, and advancing research in oncology, genetics, and molecular diagnostics. This technique allows scientists and clinicians to examine genetic material within cells, providing key insights into chromosomal structure and gene function.

How FISH Works

FISH uses fluorescently labeled DNA probes to bind to target DNA sequences. When exposed to specific wavelengths of light, these probes emit fluorescence, allowing the visual detection of the target DNA under a fluorescence microscope.

1. Sample Collection: JML collects various biological samples, such as blood, tissue, or cells, based on the clinical need. This ensures the most suitable material for analysis.
2. Chromosome Slide Preparation: The collected sample is processed to prepare chromosome slides. JML treats the slides to denature the DNA, facilitating the binding of probes to specific sequences.
3. Hybridization: Fluorescent probes are applied to the slides. These probes specifically bind to complementary DNA sequences, typically taking several hours to complete.
4. Detection: After hybridization, JML examines the slides under a fluorescence microscope. The probes emit bright fluorescent signals, highlighting the location and quantity of the target DNA, offering critical insights into genetic material.

Applications of FISH Test at Jaipur Molecular Lab (JML)

FISH Test at Jaipur Molecular Lab is used for a wide range of medical and scientific applications. Below are some of the most common uses:

1. Detecting Chromosomal Abnormalities

FISH effectively identifies chromosomal abnormalities linked to genetic disorders. At JML, FISH helps detect conditions such as:

• Down Syndrome (Trisomy 21): FISH identifies an extra copy of chromosome 21, associated with Down syndrome.
• Turner Syndrome (Monosomy X): FISH reveals a missing or incomplete X chromosome, which causes Turner syndrome.
• Klinefelter Syndrome (XXY): FISH detects the presence of an additional X chromosome in males, a characteristic of Klinefelter syndrome.

2. Cancer Diagnosis and Prognosis

FISH plays an essential role in cancer diagnosis and prognosis. At JML, FISH detects chromosomal translocations, amplifications, and other gene alterations in various cancers, such as:

• Leukemia: FISH detects chromosomal translocations, such as the Philadelphia chromosome, which is characteristic of chronic myelogenous leukemia (CML).
• Lymphomas: FISH helps identify chromosomal rearrangements associated with lymphomas, including mutations in genes like MYC, BCL2, and BCL6.
• Breast Cancer: FISH identifies HER2 gene amplification, which indicates aggressive breast cancer and guides treatment decisions.
• Bladder Cancer: FISH detects chromosomal abnormalities in bladder cancer, contributing to early diagnosis and monitoring.

3. Prenatal Testing

FISH provides a rapid and reliable method for prenatal testing. At JML, FISH is used to detect conditions such as Down syndrome, Edwards syndrome, and Patau syndrome in fetal cells, ensuring early diagnosis and better decision-making in high-risk pregnancies.

4. Microdeletion and Microduplication Syndromes

FISH excels in detecting microdeletions and microduplications—small genetic changes that can lead to developmental delays and intellectual disabilities. Examples include:

• DiGeorge Syndrome (22q11.2 deletion): FISH identifies a deletion on chromosome 22, which causes DiGeorge syndrome.
• Williams Syndrome (7q11.23 deletion): FISH detects a deletion in the ELN gene, associated with Williams syndrome.
• Prader-Willi Syndrome and Angelman Syndrome: FISH identifies deletions on chromosome 15, which cause these conditions.

5. Genetic Counseling and Family Planning

FISH aids genetic counselors in advising families on inherited genetic conditions. If a chromosomal abnormality is detected, JML’s counselors provide insights into the implications for family health and options for future family planning.

6. Research and Clinical Trials

FISH method is widely used in genetic research, especially in oncology, gene expression, and personalized medicine. Researchers at JML use FISH method to study gene function, chromosomal changes, and the molecular basis of diseases, enhancing the understanding of genetic disorders and aiding in the development of new therapies.

Advantages of FISH Test at JML

FISH offers several advantages that make it an essential tool in molecular diagnostics and research at JML:

• High Sensitivity: FISH detects subtle genetic changes that may go unnoticed with other methods, ensuring accurate results.
• Rapid Results: Compared to traditional cytogenetic techniques, FISH provides quicker results, making it ideal for urgent diagnostic needs.
• Targeted Analysis: FISH allows focused analysis of specific genes or chromosomal regions, streamlining the testing process.
• Direct Visualization: The ability to visualize genetic material directly ensures accuracy and provides clear insights into chromosomal structures.

Conclusion

FISH test at Jaipur Molecular Lab (JML) is indispensable for diagnosing genetic disorders, detecting cancers, and advancing research in molecular genetics. Its ability to identify chromosomal abnormalities and visualize genetic material provides vital information for clinicians and researchers. By offering precise, rapid, and reliable diagnostic services, JML ensures the best possible outcomes for patients and supports advancements in molecular diagnostics and personalized medicine.