Pillar® INHERIT/Reveal™ Thalassemia Panel

The INHERIT/Reveal 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.

Panel highlights

Full HBB CDS plus HBA1 and HBA2 hostspots 

Includes HBB UTR’s, promoter regions, and pathogenic introns

Captures SNVs, CNVs, and small/medium and large indels 

As little as 5ng input DNA 

For research use only. Not for use in diagnostic procedures.

Panel specifications

Enrichment chemistry Multiplex PCR using tiled amplicons
Number of pools 1 pool
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)
Input DNA 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
Sequencing platforms Illumina®, MGISEQ™, and Ion Torrent™ platforms

Target information

Gene Location HGVSc HGVSp
HBA2 (NM_000517.4)
Exon3
c.369C>G
p.His123Gln
c.427T>C
p.Ter143GlnextTer31
c.377T>C
p.Leu126Pro
HBB (NM_000518.4)
3’ UTR
c.*v110_*111del
Intron2
c.316-197C>T
c.315+1G>A
Exon2
c.217dup
p.Ser73LysfsTer2
c.165_177delAGGGTTGCCCATA
p.Met56ArgfsTer2
c.126_129delAAAG
p.Phe42LeufsTer19
c.130G>T
p.Glu44Ter
Intron1
c.92+1G>T
c.92+2T>C
Exon1
c.79G>A
p.Glu27Lys
c.52A>T
p.Lys18Ter
c.1A>G
Promoter
c.-78A>G
c.-79A>G
c.-138C>A

Pillar technology

Pillar provides a seamlessly integrated NGS workflow, from panel design to data analysis.

ampPD™

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Primer design platform for reliable amplicon specificity

SLIMamp®

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Enrichment chemistry that enables single-tube amplification

PiVAT®

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Bioinformatic tools that deliver sensitive, robust variant calls

Contact an expert

Contact us for technical information or to get a quote

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