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3B-GENOME : Whole Genome Sequencing (WGS) techniques are used to analyse the entire genome sequence, including not only exon but also intron regions, and can identify many different types of variants, including SNVs, INDELs, SVs (including CNVs).

3B-EXOME : Whole Exome Sequencing (WES) techniques analyse SNVs, INDELs and CNVs present in the exome to identify variants.

3B-VARIANT : Sanger sequencing is used to confirm specific, targeted variants. If a variant is detected through 3B-GENOME or 3B-EXOME, the patient or the patient’s family can conduct a 3B-VARIANT test to confirm the detected variants.

3B-INTERPRETER : Analysis of the sequence data from the FASTQ file, and the scope of analysis and types of variants may vary depending on the data provided.

For more information, see the overview page.