Single Gene analysis(Sequencing only)

test is designed to analyze the complete coding regions and intron–exon boundaries of a single gene using next-generation sequencing (NGS) or Sanger sequencing, depending on the gene and clinical indication. This test focuses exclusively on sequencing analysis and does not include deletion or duplication (copy number) analysis.

This test is particularly useful when the patient’s clinical presentation, family history, or biochemical findings strongly suggest the involvement of a specific gene known to be associated with the phenotype. By targeting a single, well-defined gene, this approach provides a cost-effective and precise method for identifying single nucleotide variants (SNVs), small insertions, or small deletions that may be pathogenic.