Next Generation Sequencing (NGS) for rare diseases

Product

Overview

One-stop diagnosis with 3billion

Find out more about each test

Sequence the entire genome
3B-GENOME
MethodNext generation sequencing
ScopeWhole genome + mtDNA
Variant Types^*SNV, INDEL, SV (including CNV)
ReanalysisUpon request^**
TAT5 weeks
Sequence all exons of ~20,000 genes
3B-EXOME
MethodNext generation sequencing
ScopeWhole Exome + mtDNA
Variant Types^*SNV, INDEL, CNV
ReanalysisAutomated^***
TAT5 weeks
Sequence specific genomic position
3B-VARIANT
MethodSanger sequencing
ScopeTarget variants found by a preliminary test
Variant Types-
Reanalysis-
TAT2 weeks
Sequence data analysis only
3B-INTERPRETER
MethodRaw sequence data analysis
ScopeDepends on the data received
Variant TypesDepends on the data received
ReanalysisDepends on the data received
TAT2 weeks

^* SNV : Single nucleotide variants / INDEL : Small insertion/deletions / CNV : Copy number variants / SV : Structural variants^** If patient symptoms, family history, etc. change, or one year after the initial exam^*** Consent renewal every 10 years

Find out more about platform

Optimize your interpretation with AI-powered platform

MethodFASTQ, VCF Data-Based Analysis

Variant TypesSNV/INDEL, CNV, Inversions, Translocations, Mobile element insertions, Repeat expansions

TAT20 minutes *

MethodFASTQ, VCF Data-Based Analysis

TAT20 minutes *

Variant TypesSNV/INDEL, CNV, Inversions, Translocations, Mobile element insertions, Repeat expansions

* Based on WES Proband VCF file

Differences between product lines

3B-EXOME, 3B-GENOME, 3B-VARIANT are standard genetic tests that provide reports based on submitted samples, each differing in the scope of analysis.
3B-INTERPRETER is a data-based genetic test that generates reports from uploaded data.
GEBRA™ is a software platform that analyzes uploaded data and generates reports.