Molecular Genetic Friedrich's Ataxia ( FA ) Gene Polymorphism - PCR
Test Code
MOG59
Also Known As
No data available
Test Parameters Included
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Department
MOLECULAR GENETICS
Methodology
PCR (Polymerase Chain Reaction) / Fragment Analysis
This test specifically utilizes PCR (Polymerase Chain Reaction), coupled with a specialized technique for sizing DNA fragments, typically Fragment Analysis (often performed on capillary electrophoresis systems). Friedreich's Ataxia (FA) is caused by an expansion of a GAA trinucleotide repeat in the FXN gene. The PCR method is specifically designed to determine the number of GAA repeats in both alleles of the FXN gene.
* PCR Principle: Specific primers are designed to flank the GAA repeat region within intron 1 of the FXN gene. PCR amplifies this region, creating millions of copies.
* Repeat Sizing: The amplified DNA fragments are then separated and sized with high resolution. Since each GAA repeat adds three base pairs, the length of the PCR product directly correlates with the number of GAA repeats. Capillary electrophoresis systems accurately measure the size of these fragments and thus determine the exact GAA repeat number for each allele.
* Southern Blot (Confirmatory/for very large expansions): While PCR-based fragment analysis is the primary method for most FA expansions, very large or unusually sized expansions might occasionally require confirmation or initial detection by Southern blot analysis, as PCR can sometimes struggle with extremely long repeats. However, for routine diagnostics, fragment analysis is the first line.
This method allows for the precise and reliable detection of the GAA repeat expansion, which is diagnostic for FA.
Sample Required
Whole Blood (WB) in EDTA
* Typically, 2-5 mL of Whole Blood collected in an EDTA (lavender-top) vacutainer tube is required. EDTA prevents blood clotting and optimally preserves the DNA within white blood cells.
* Proper collection and timely transport (preferably refrigerated) are crucial to ensure the integrity of the DNA sample for accurate analysis.
Preparation
Proper collection and handling of the blood sample are essential for accurate and reliable genetic testing. * No specific patient preparation is required (e.g., fasting or dietary restrictions). * Sam... Read more
Schedule Report
7 Days
Emergency Report
Yes
Frequently Asked Questions
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Test Description
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