Molecular Genetic Factor XIII Mutation Analysis - RT-PCR
Test Code
MOG29
Also Known As
No data available
Test Parameters Included
No data available
Department
MOLECULAR GENETICS
Methodology
RT-PCR (Reverse Transcription Polymerase Chain Reaction) / PCR / Sanger Sequencing / High-Resolution Melt Analysis (HRM)
While the prompt mentions "RT-PCR," it's crucial to clarify that Factor XIII (FXIII) mutation analysis typically involves DNA-based PCR and sequencing to detect genetic variations in the F13A1 and F13B genes. Reverse Transcription PCR (RT-PCR) is generally used for RNA analysis (e.g., gene expression, fusion transcripts), which is not the primary approach for detecting germline or somatic mutations in FXIII deficiency. The term "RT-PCR" might be broadly used by some labs to indicate PCR-based molecular techniques. The specific methodologies employed are:
* PCR (Polymerase Chain Reaction): Used to amplify specific exons of the F13A1 (encoding Factor XIII A-subunit) and/or F13B (encoding Factor XIII B-subunit) genes where known pathogenic mutations are located.
* Sanger Sequencing: This is the gold standard for identifying specific point mutations, small insertions, and deletions in the amplified PCR products. This method provides high accuracy and is used to confirm the precise genetic change.
* High-Resolution Melt Analysis (HRM) / Allele-Specific PCR: These techniques might be used as a preliminary screening tool for common mutations, with positive or suspicious results then confirmed by Sanger sequencing.
The primary goal is to identify genetic variants that lead to reduced or absent Factor XIII activity, causing Factor XIII Deficiency.
Sample Required
Whole Blood (WB) in EDTA Vacutainer
(A sample of whole blood collected in an EDTA vacutainer is required for this test. EDTA acts as an anticoagulant to preserve the blood sample for high-quality DNA extraction.)
Preparation
No specific preparation is typically required for this genetic test. * No Fasting Required: Fasting is not necessary for this blood sample collection. * No Special Timing: Blood can be drawn at any ti... Read more
Schedule Report
3 Days
Emergency Report
Yes
Frequently Asked Questions
No data available
Test Description
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