The 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 for efficient single-tube target enrichment. Additionally, known long deletions (10-30kb) are detected by gapPCR.
| Parameter | Description / Value |
|---|---|
| Enrichment chemistry | Multiplex PCR using tiled amplicons |
| Number of genes / amplicons | 3/125 |
| Number of targets | HBA1 and HBA2 hotspots; HBB full CDS and splice sites, 3’ UTRs, 5’ UTRs with promoter regions and pathogenic intronic regions |
| Variant types | SNVs, small and medium indels, large deletions, CNVs |
| Average amplicon size | 156bp (131bp-175bp range; excludes GAP PCR amplicons) |
| Recommended 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% |
Maintain control of samples and results with single-tube, tiled amplification that can be performed in-house by any NGS lab.
Achieve variant detection as low as 1% VAF† without UIDs ‡ even with limited DNA input or poor sample quality.
Improve lab efficiency and reduce “no calls”, repeat testing, and difficult interpretation decisions
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