Chromosome 21 Lsi Fish

• Purpose: The Chromosome 21 Lsi Fish Test is a molecular diagnostic test used to detect abnormalities in chromosome 21 using Fluorescence In Situ Hybridization (FISH) technology
• Procedure: It involves the hybridization of fluorescently labelled DNA probes specific to chromosome 21 to cells from a patient sample
• Detection: The test identifies extra copies (trisomy) or deletions of chromosome 21, which are associated with genetic disorders such as Down syndrome
• Accuracy: FISH technology provides high sensitivity and specificity in detecting chromosomal abnormalities
• Clinical Utility: It aids in prenatal screening, diagnosis of genetic disorders, and monitoring response to treatment
• Frequency: The test is typically performed when there are clinical indications of chromosomal abnormalities

• Prenatal Screening: It helps identify chromosomal abnormalities such as trisomy 21 (Down syndrome) in fetuses during pregnancy
• Diagnostic Testing: The test confirms suspected chromosomal abnormalities in individuals with clinical features suggestive of genetic disorders.
• Monitoring: It assists in monitoring disease progression and response to treatment in individuals with chromosomal abnormalities.

• Fluorescent Probes: Specific DNA probes labelled with fluorescent dyes targeting regions on chromosome 21
• Hybridization Buffer: Solution facilitating the binding of DNA probes to target chromosomes
• Fluorescence Microscope: Instrumentation used to visualize and analyze the fluorescent signals emitted by the labelled DNA probes

• Normal Result: Two fluorescent signals per cell indicate the presence of two copies of chromosome 21, indicating a normal chromosomal complement
• Abnormal Result: Additional fluorescent signals suggest the presence of extra copies (trisomy) or missing signals indicate deletions of chromosome 21, indicating chromosomal abnormalities
• Quantitative Analysis: The number of fluorescent signals per cell provides quantitative information about the extent of chromosomal abnormalities

• Report Format: Results are reported as normal or abnormal based on the presence or absence of extra fluorescent signals
• Interpretation: Healthcare providers interpret the results in the context of the patient's clinical history and symptoms
• Clinical Recommendations: Further diagnostic evaluations or genetic counselllng may be recommended based on the test results

Q: How is the Chromosome 21 Lsi Fish Test performed?
The test involves hybridizing fluorescently labelled DNA probes specific to chromosome 21 to patient cells, followed by visualization under a fluorescence microscope
 

Q: What conditions does the test detect?
The test primarily detects abnormalities in chromosome 21, including trisomy 21 (Down syndrome) and deletions of chromosome 21
 

Q: Is the test only performed during pregnancy?
No, the Chromosome 21 Lsi Fish Test can be performed in individuals of all ages, including prenatal screening during pregnancy and diagnostic testing in postnatal individuals
 

Q: How long does it take to receive the results?
Results are typically available within a few days after the sample is processed in the laboratory
 

Q: Are there any risks associated with the test?
The test carries minimal risks similar to other diagnostic procedures involving blood or tissue sampling
 

Q: What if the test results indicate a chromosomal abnormality?
Further genetic counselling and diagnostic testing may be recommended to understand the implications of the chromosomal abnormality and guide medical management
 

Q: Can the test predict the severity of Down syndrome?
The test provides information about the presence or absence of chromosomal abnormalities but does not predict the severity of associated conditions like Down syndrome