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Lahalak Medical PlatformDifferentiate Care
Single Gene Sequencing (Del/Dup) Test
Comprehensive genetic analysis to detect precise mutations and structural changes in a specific gene, providing a definitive diagnosis for rare genetic diseases with extreme accuracy.
A comprehensive molecular genetic analysis consists of two main parts: Whole gene sequencing (Sanger Sequencing or NGS): to identify changes in the nitrogenous base sequence (point mutations, translocations, substitutions) in all coding and ligand regions of the target gene. Deletion/duplication analysis (MLPA, qPCR, or aCGH): to detect structural changes (extra copy or loss of segment) in the same gene. These are mutations common in many genetic diseases and cannot be detected by conventional sequencing techniques.
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