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BRCA1 / BRCA2, Full Gene Analysis with NGS and MLPA

Includes 1 test
30 Days

BRCA1 and BRCA2 full gene analysis using Next-Generation Sequencing (NGS) and Multiplex Ligation-dependent Probe Amplification (MLPA) are used in combination for BRCA1 and BRCA2 gene analysis because they provide complementary information:

  • NGS provides comprehensive sequencing of the entire genes, allowing for the detection of point mutations and other small genetic variations. This is crucial for identifying pathogenic mutations in the coding regions and regulatory regions of these genes.
  • MLPA focuses on detecting large-scale deletions or duplications in the genes. While NGS is excellent for identifying point mutations, MLPA is more effective at identifying structural changes in the genes, which can also increase cancer risk.

By using both NGS and MLPA, a more complete and accurate assessment of BRCA1 and BRCA2 genes is achieved, helping specialists make more precise risk assessments and personalized recommendations for individuals and their families.

BRCA1 and BRCA2 are human genes that play a crucial role in the development of breast and ovarian cancers. Mutations in these genes are associated with an increased risk of these cancers. When individuals have a family history of breast or ovarian cancer, or other risk factors, they may undergo genetic testing to assess whether they carry mutations in these genes.

NGS (Next-Generation Sequencing) and MLPA (Multiplex Ligation-dependent Probe Amplification) are two advanced molecular biology techniques used in genetic testing, including BRCA1 and BRCA2 gene analysis.

NGS (Next-Generation Sequencing)

  • NGS is a high-throughput DNA sequencing technology that can analyze multiple genes simultaneously.
  • In the context of BRCA1 and BRCA2 gene analysis, NGS can be used to sequence these genes and identify any mutations or variants.
  • It provides comprehensive sequencing of the entire gene or specific regions of interest within the gene.
  • NGS can detect various types of genetic changes, including point mutations, insertions, deletions, and duplications.
  • It is highly sensitive and can identify mutations in the coding regions of the genes, intron-exon boundaries, and other regulatory regions.
  • NGS can also be used to sequence multiple genes associated with hereditary cancer syndromes to provide a more comprehensive assessment of cancer risk.

MLPA (Multiplex Ligation-dependent Probe Amplification)

  • MLPA is a technique used to detect and quantify copy number variations (CNVs) in specific DNA sequences.
  • In the context of BRCA1 and BRCA2 analysis, MLPA can identify large-scale deletions or duplications within these genes, which can also increase the risk of cancer.
  • MLPA involves the use of multiple probes that hybridize to the target DNA sequences, followed by ligation and amplification steps.
  • By comparing the results to a reference sample, MLPA can determine if there are any deletions or duplications in the BRCA1 and BRCA2 genes.

The combination of NGS and MLPA in BRCA1 and BRCA2 gene analysis allows for a comprehensive assessment of mutations and genetic variations that may increase the risk of breast and ovarian cancer.

See also: BRCA1 / BRCA2, Full Gene Analysis with NGS

Additional information
Tests includedIncludes 1 test
Sample Blood
Procedure completion test
Step 1

Book an appointment and buy the test online

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Step 2


Visit the certified laboratory of Diagnostiki Athinon on the date and time you have chosen, to perform the sampling.

Step 3

Receiving the test results

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