BRCA1 e BRCA2 Gene Mutation Detection Kit

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BRCA1 e BRCA2 Gene Mutation Detection Kit

Il BRCA1 e BRCA2 Gene Mutation Detection Kit permette di identificare mutazioni patogenetiche unitamente a varianti benigne, sia a livello germinale che somatico.

Tecnologia: NGS per piattaforma Illumina

Preparazione libreria: HANDLE PCR System con unico step di purificazione

Coverage: tutti gli esoni codificanti, regioni di legame tra esoni ed introni, UTRs e promotori

Marcato CE-IVD.

Codice: LCMNBR01

Risultato finale: 3 giorni


Product Name Format Size (test/kit) Storage Cat. No.
BRCA1 and BRCA2 Gene Mutation Detection Kit BOX 24 -20±5°C LCMNBR01

Next Generation Sequencing

BRCA 1/2 are tumor suppressor genes that play a key role in the process of DNA homologous recombination. The stability of DNA structure will be influenced if BRCA 1/2 are mutated and lost their activity. Both BRCA 1/2 germline and somatic mutations can be related to many kinds of cancer, mainly breast and ovarian cancers.

Clinical studies have shown that patients with BRCA 1/2 mutations can benefit from the treatment of PARP inhibitors.




Assay Highlights

  • Innovative HANDLE PCR system
  • Perform liquid handling within one tube, no need to transfer
  • Hands-on time <45 min
  • Samples: FFPE, fresh tissues and blood
  • Coverage: intron-exon boundaries, promoter range, UTR range
  • Target length: 120~160bp
  • CE-IVD
  • Sensitivity: 1%
  • Suitable for ALL Illumina platform
  • ANDAS data analysis system included


Technological Principles

The test kit is based on Halo-shape Annealing and Defer-Ligation Enrichment system (HANDLE system) technology which is improved Molecular Inversion Probe (MIP) technology to capture the target gene, then through performing sequencing on Illumina platform to realize the mutation detection in target gene region.

The probe contains extension arm and ligation arm which are complementary to the target gene region. When the extension arm and ligation arm anchor to the target gene, with the help of DNA polymerase, the DNA is extended from extension arm to ligation arm. The ligase joins the incision to obtain a circular product. Exonuclease is used to digest probe, sing-strand and double-strand nucleic acid, only the circular product remains. Then the PCR amplification is performed with the common sequence on probes to obtain the enriched and target library.


  • Kaufman B et al., J Clin Oncol. 2015; 33: 244-250
  • Mateo J et al., N. Eng. J. Med. 2015; 373: 1697-1708
  • Oza AM et al., Lancet Onc. 2015; 16:87-97

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