Molecular Genetic Single Gene Analysis - NGS
Test Code
MOG34
Also Known As
No data available
Test Parameters Included
No data available
Department
MOLECULAR GENETICS
Methodology
NGS (Next-Generation Sequencing) / Sanger Sequencing (for confirmation)
The primary methodology for this test is Next-Generation Sequencing (NGS). NGS allows for highly parallel sequencing of a targeted gene, providing extensive coverage and enabling the detection of various types of genetic alterations, including:
* Point Mutations (Single Nucleotide Variants - SNVs): Changes in a single DNA base pair.
* Small Insertions and Deletions (Indels): Additions or removals of a few DNA base pairs.
* Some Copy Number Variations (CNVs): Large deletions or duplications of entire exons or genes can sometimes be inferred from read depth analysis in NGS data, though dedicated methods like MLPA are generally more robust for CNV detection.
Sanger Sequencing is often used as a confirmatory method for variants detected by NGS, especially for novel or clinically significant findings, to ensure high accuracy and reliability.
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
30 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.