• Test Code: ON140

Test Description

In tumor cells, when DNA damage occurs, it is not effectively repaired, leading to uncontrolled cell division. Homologous recombination deficiency (HRD) refers to the failure of DNA repair due to issues with the homologous recombination function, such as abnormalities in the BRCA genes. Tumors resulting from HRD exhibit favorable responses to targeted drugs like PARP inhibitors, offering promising therapeutic effects.

Ordering information

  • Turnaround time: 21 Days
  • Specimen: FFPE slides
    • 10 unstained sections from one block (10 μm x 10 sections) & H&E 1 slide
    • Tissue size : 4 mm x 4 mm
    ⚠ Unstained slide Only, FFPE block is not acceptable. ⚠ The pathology report should be enclosed with samples.

Assay information

  • Target Region: 28 genes + HRD score (GIS: Genomic Instability Score)
  • Massively Parallel Sequencing: Illumina
  • Gene List: ATM, BARD1, BRIP1, BRCA1, BRCA2, CDK12, CHEK1, CHEK2, FANCC, FANCD2, FANCE, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, MRE11, NBN, PALB2, PPP2R2A, RAD50, RAD51, RAD51B, RAD51C, RAD51D, RAD52, RAD54L, XRCC2

Result

The test results will be provided according to the designated TAT. Review the sample report to see how the results are structured.

Limitations

  • This test was performed using NGS method to examine the mutations in BRCA1 and BRCA2 genes and genomic instability markers. It cannot detect mutations in regions not included in the test.
  • The detection limit for SNV and small indel mutations in BRCA1 and BRCA2 genes is approximately 5%.
  • Some target regions may have lower coverage.
  • This test cannot differentiate between germline and somatic mutations, and in cases where the variant allele frequency is close to 50% or 100%, the possibility of a germline variant cannot be ruled out.

Verifying more specific details about the Test