Meet 3B-EXOME V2: Broader Coverage, Deeper Insights

Exome sequencing is a powerful tool—but sometimes, it doesn’t go deep enough.
When a diagnosis is missed, it’s often because the answer lies in genomic regions beyond traditional coverage.

That’s why we’re introducing 3B-EXOME V2, the enhanced version of our clinical exome test.
Designed to reach further, cover more, and deliver greater diagnostic confidence.

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🔍 What’s New in 3B-EXOME V2?

1. Coverage of Non-coding Genes with Known Pathogenic Variants

Non-coding genes like RNU4-2 and CHASERR are now included, capturing pathogenic variants that were previously inaccessible.

📊 Image 1. CHASERR coverage comparison
V2 improves coverage of structurally complex non-coding genes, adding diagnostic value.

📊 Image 2. RNU4-2 coverage comparison
The V2 panel ensures uniform coverage across the entire gene, enabling detection of deep intronic variants.

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2. Expanded Intron and CNV Detection in Treatable Genes

3B-EXOME V2 captures variants that matter clinically, not just scientifically.
We’ve enhanced coverage of genes with approved or investigational therapies, including:

• GLA, RPE65, DDC, NF1, TPP1, TTR
• Supports detection of deep intronic variants and single-exon CNVs

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3. Mitochondrial Genome Coverage Up to 2000x

Mitochondrial disorders are often underdiagnosed due to insufficient sequencing depth.
With 3B-EXOME V2, average mitochondrial genome coverage reaches 2000x,
allowing for confident detection of heteroplasmy down to 5%.

📊 Image 3. MT genome coverage comparison

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4. Updated Non-coding Variant Database

We’ve included non-coding P/LP variants submitted to ClinVar after the release of V1.
This ensures you’re not missing actionable deep intron or UTR variants validated in recent years.

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📌 Take Another Look at Unsolved Cases