Genomic Loss of Heterozygosity or genomic instability is often related to defective homologous recombination repair mechanisms.
Caris utilizes MI Exome™ (whole exome sequencing) to analyze 250,000 evenly-spaced single nucleotide polymorphisms (SNP) to measure genomic instability in the tumor. Genomic Loss of Heterozygosity (LOH) or genomic instability is often related to defective homologous recombination repair mechanisms. High levels of genomic instability may be indicative of PARP inhibitor and platinum therapy response.
|Genomic Loss of Heterozygosity (LOH)||Seq||DNA-Tumor||High-38% of tested genomic segments exhibited LOH
(assay threshold is ≥ 16%)
Genomic LOH testing is provided at no additional cost and no increase in specimen requirements or turnaround time when Caris molecular profiling is ordered. The results can be found in the Genomic Signatures section of the Caris molecular profiling report, alongside Microsatellite Instability (MSI) and Tumor Mutational Burden (TMB) results.
The cell has lost copy B and, therefore, is no longer heterozygous at this location.
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