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Alternative Name
Homologous Recombination Deficiency / Repair (HRD / HRR)
Methodology
Molecular
Test Description

The NeoTYPE HRD+ Profile analyzes 30 genes by next-generation sequencing (NGS) as listed below.

  • NGS (30 genes): ATM, ATR, BARD1, BRCA1, BRCA2, BRIP1, CDK12, CHEK1, CHEK2, FANCA, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCL, MLH1, MRE11A, MSH2, MSH6, NBN, PALB2, PMS2, RAD50, RAD51, RAD51B, RAD51C, RAD51D, RAD54L, TP53
Clinical Significance

Homologous recombination deficiency (HRD) is a type of genomic instability caused by mutations in genes involved in repair of double-stranded DNA breaks. BRCA1, BRCA2, ATM, PALB2, and RAD51 are among the best-known genes in this repair complex; 26 such genes are included in the NeoTYPE HRD+ Profile which is a tumor profile for somatic mutation detection. PARP inhibition targets HRD-mutated cells by further crippling DNA repair and inducing synthetic lethality of tumor cells. PARP inhibition is an active area of clinical trial research across a wide variety of tumors. Breast, ovarian, pancreatic, and prostate are the cancers most studied for response to FDA-approved and off-label therapy uses. Some tumors with HRD mutations have shown susceptibility to platinum-based chemotherapy.

This Profile also includes four genes associated with Lynch Syndrome, another cause of genomic scarring due to mismatch repair deficiency and microsatellite instability. Checkpoint inhibitor therapy may be considered for patients whose tumors express these defects. 

Specimen Requirements
  • FFPE tissue: Paraffin block preferred. Please use 10% buffered formalin fixative. Do not use zinc fixatives.
Storage and Transportation

Use cold pack for transport, making sure cold pack is not in direct contact with specimen.

CPT Code(s)*
81445x1
Turnaround Time
14 days
References
  1. O'Kane GM, Connor AA, Gallinger S. Characterization, detection, and treatment approaches for homologous recombination deficiency in cancer. Trends Mol Med. 2017;23(12):1121-1137.
  2. Faraoni I, Graziani G. Role of BRCA mutations in cancer treatment with poly(ADP-ribose) polymerase (PARP) inhibitors. Cancers. 2018;10:487; doi:10.3390/cancers10120487
Level of Service
Global

*The CPT codes provided with our test descriptions are based on AMA guidelines and are for informational purposes only. Correct CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payor being billed.