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3billion provides 3 types of tests using different methods of analysis.

3B-GENOME

: Whole genome sequencing covers both the exon and intron regions. Our team will interpret all variant types, including SNVs, Indels and SV with CNVs.

3B-EXOME

: Whole exome sequencing covers SNVs and DelIns in the protein-coding region(exome) and can also detect CNVs spanning more than 3 consecutive exons.

• Proband testing is exome sequencing for the affected patient only.
• Duo testing is exome sequencing for the affected patient and one biological parent. The biological parent may or may not be presenting symptoms.
• Trio testing is exome sequencing for the affected patient and both biological parents. The biological parents may or may not be presenting symptoms.

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.