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BRCA1 and BRCA2 copy number analysis by MLPA

Assessment of the copy number of the BRCA1 and BRCA2 genes by MLPA to detect deletions and duplications in the investigation of hereditary predisposition to breast and ovarian cancer.

Accepted samples
Peripheral blood (preferred), Buccal swab, Extracted DNA
Turnaround time and when it starts
35 calendar days, after order confirmation
Medical order
Required. View requirements and limitations.

Test information

Technical details for BRCA1 and BRCA2 copy number analysis by MLPA

Method, scope, requirements and limitations

Assessment of the copy number of the BRCA1 and BRCA2 genes by MLPA to detect deletions and duplications in the investigation of hereditary predisposition to breast and ovarian cancer.

Applications
Hereditary cancer
Accepted samples
Peripheral blood (preferred), Buccal swab, Extracted DNA
Estimated turnaround time
35 calendar days, after order confirmation
Methodology
MLPA (Multiplex Ligation-Dependent Probe Amplification) study to assess gene copy number.
Analytical scope
Copy number of the BRCA1 and BRCA2 genes, with detection of deletions and duplications in the regions covered by the assay probes.
Genes analyzed
2 genes analyzed.
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BRCA1, BRCA2

Medical order
Required

Requirements

A medical order and sufficient clinical information to guide the analysis.

Limitations

This test does not detect point variants (SNVs) or small deletions/duplications (indels). Variants outside the validated scope may not be detected.

Additional information

The report must be interpreted by a physician within the clinical context of the patient. Genetic counseling is recommended.