ExomePlus

One Stop Solution for Superior SNV & CNV Detection
Test Code
SLS166004
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What is Exome Plus?

ExomePLus is a comprehensive high-throughput exome sequencing test performed on the NovaSeq X Plus with an average sequencing depth of >100X, enabling it to detect:

  • Multiple variant types such as Single Nucleotide Polymorphisms (SNPs), Small Insertion-deletions (Indels), and exon-level deletions and duplications
  • Exon level deletions and duplications detected
  • 100% coverage of the mitochondrial genome
  • >96% of all bases are sequenced with > Q30 quality score
  • Utilizes bioinformatics pipelines on StrandNGS and StrandOmics

When used in prenatal tests, the higher diagnostic yield of ExomePlus empowers clinicians to diagnose fetal anomalies.

Genes Covered/No of Genes: ~20000 gene
ExomePlus Trio

Key features:

  • Advanced variant detection: Detects multiple variant types such as SNPs, small indels, exon-level deletions, and duplications.
  • Comprehensive genome coverage: Provides 100% coverage of the mitochondrial genome; >96% of all bases sequenced with a >Q30 quality score.
  • Bioinformatics pipelines: Utilizes advanced bioinformatics pipelines on StrandNGS and StrandOmics
  • Powerful prenatal diagnostic tool: Empowers clinicians to diagnose fetal anomalies with a higher diagnostic yield

Who is Exome Plus for?

  • Individuals with suspected genetic disorders where standard genetic testing has been inconclusive.
  • Individuals with complex or undiagnosed conditions.
  • Prenatal diagnosis of fetal anomalies.
  • Cases where a very high depth of sequencing is required.
Methodology: NGS

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