Single Gene Sequencing Test - Single Gene Sequencing (Del/Dup) Test

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.