Molecular Genetic AR / SBMA Spinal and Bulbar Muscular Atrophy - PCR
Test Code
MOG55
Also Known As
No data available
Test Parameters Included
No data available
Department
MOLECULAR GENETICS
Methodology
PCR
This test primarily utilizes PCR (Polymerase Chain Reaction). For Spinal and Bulbar Muscular Atrophy (SBMA), which is caused by an expansion of a CAG trinucleotide repeat in the Androgen Receptor (AR) gene, the PCR method is specifically designed to determine the number of CAG repeats. This is typically achieved through a specialized PCR technique called Fragment Analysis or Repeat-Primed PCR, followed by high-resolution electrophoresis or capillary electrophoresis.
* PCR Principle: Specific primers are designed to flank the CAG repeat region within exon 1 of the AR gene. PCR amplifies this region.
* Repeat Sizing: The amplified DNA fragments are then separated and sized based on their length. Since each CAG repeat adds three base pairs, the length of the PCR product directly correlates with the number of CAG repeats. Automated DNA sequencers or capillary electrophoresis systems are used to accurately measure the size of these fragments and thus determine the exact CAG repeat number.
This method allows for the precise and reliable detection of the CAG repeat expansion, which is diagnostic for SBMA.
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
No data available
Test Description
- High-end laboratory & medical equipment.
- Outstanding doctor team.
- Personalized care & high-quality service.
- Tailormade health screening packages.