oncoReveal®
Thalassemia Panel
The inheritRevealTM Thalassemia Panel is specifically designed to cover mutations in the hemoglobin alpha chain (HBA1 and HBA2) and beta chain (HBB), which are responsible for alpha and beta thalassemia.
The panel uses proprietary Stem-Loop Inhibition-Mediated amplification (SLIMamp®) technology, a tiled
amplicon-based library prep chemistry for efficient single-tube target enrichment. Additionally, known long deletions (10-30kb) are detected by gapPCR.
Panel Specifications*
| Enrichment chemistry | Multiplex PCR using tiled amplicons |
| Number of pools | 1 pool |
| Number of genes/amplicons | 3/131 |
| Number of targets | HBA1 and HBA2 hotspots; HBB full CDS and splice sites, 3’ UTRs, 5’ UTRs with promoter regions and pathogenic intronic regions; 67.2 kb total size |
| Variant types | SNVs, small and medium indels, large deletions, CNVs |
| Average amplicon size | 156bp (131bp-175bp range; excludes gap-PCR amplicons) |
| DNA input range | 5ng to 80ng (20ng recommended) |
| Sample types | Genomic DNA |
| Mapping rate | 99.7% ± 0.1% |
| % on-target aligned reads | 99.5% ± 0.1% |
| Coverage uniformity (% targets with >0.2X mean coverage) | 96.5% ± 2.4% |
| Total assay time (from DNA to sequencer) | <8 hours |
*Mapping rate, percentage of on-target aligned reads, and coverage uniformity metrics are based on internal testing performed using reference standard materials
Simple NGS Library Prep Workflow
Maintain control of samples and results with single-tube, tiled amplification that can be performed in-house by any NGS labSensitive and
Robust Chemistry
Achieve variant detection as
low as 1% VAF† without UIDs‡
even with limited DNA input
or poor sample quality
Reduced Fully-Loaded Lab Costs
Improve lab efficiency and reduce “no calls”, repeat testing, and difficult interpretation decisions‡ UID, unique ID; also known as unique molecular ID (UMI); † VAF, variant allele frequency
For Research Use Only. Not for use in diagnostic procedures..
Ordering Information
Select the panel and one of the index kit options listed below.
| Panel | Part number |
|---|---|
| inheritRevealTM Thalassemia Panel (24 reactions) | HDA-TH-1001-24 |
| Pillar Index Kit options | Reactions | Part number |
|---|---|---|
| Pillar Custom Index Primers Kit A | 32 Combinations, 96 reactions | IDX-PI-1001-96 |
| Pillar Custom Index Primers Kit B | 32 Combinations, 96 reactions | IDX-PI-1002-96 |
| Pillar Custom Index Primers Kit C | 32 Combinations, 96 reactions | IDX-PI-1003-96 |
| Pillar Custom Index Primers Kit D | 96 Combinations, 192 reactions | IDX-PI-1004-192 |
| Pillar Custom Index Primers Kit E | 96 Combinations, 384 reactions | IDX-PI-1004-384 |
User Guide
Thalassemia Panel
Product Sheet
Thalassemia Panel