BRCA1 & BRCA2 Mutation Detection (reflex MLPA) Germline

This germline BRCA test looks for inherited changes in the BRCA1 and BRCA2 genes, which raise the risk of breast, ovarian and some other cancers. If sequencing does not find a change, the lab automatically checks for larger deletions or duplications using MLPA.

What the test looks for

BRCA1 and BRCA2 normally help repair damaged DNA and protect cells from becoming cancerous. A harmful (pathogenic) variant in one of these genes reduces that protection and increases the lifetime risk of breast and ovarian cancer, and also of cancers such as prostate and pancreatic cancer.

“Germline” means the test looks at the genes you were born with, using DNA from your blood. These are the changes that can be passed between generations.

The test works in two steps:

1. Sequencing reads the BRCA1 and BRCA2 genes to find small changes, such as single-letter changes or small deletions.
2. Reflex MLPA: if sequencing finds no harmful change, the lab runs MLPA, a method that detects larger deletions or duplications of whole sections of the genes. These larger changes can be missed by sequencing alone.

Who might consider it

Doctors and genetic counsellors usually consider BRCA testing for people with:

• Breast cancer at a young age, cancer in both breasts, or triple-negative breast cancer
• Ovarian, fallopian tube or primary peritoneal cancer
• Male breast cancer, or pancreatic or prostate cancer with a family history of related cancers
• Several close relatives on the same side of the family with breast, ovarian, prostate or pancreatic cancer
• A relative already known to carry a BRCA1 or BRCA2 variant

If a variant is already known in your family, ask us about testing for that specific change. If your personal or family history involves other cancers, a wider hereditary cancer gene panel or the germline HRR panel may be more suitable.

Before you book

The test uses one blood sample. Our team can collect it at your home or office anywhere in Dubai, or you can visit our lab in Al Karama or Al Barsha 1. The lab asks for a signed consent form and your relevant medical history with the sample, as it does for all genetic tests. The family history you share helps the lab and your doctor interpret the result. Sequencing results are usually ready in 25–30 days; if the reflex MLPA step is needed, it can take a little longer, and we keep you updated.

Genetic test results can affect you and your relatives, so we strongly recommend speaking with a doctor or genetic counsellor before and after testing.

Understanding your results

Your report will usually say one of the following:

• Pathogenic or likely pathogenic variant found: you have an increased risk of certain cancers. Your doctor will discuss options such as earlier or more frequent screening and ways to reduce risk, and whether relatives should be tested.
• Variant of uncertain significance (VUS): a change was found, but it is not yet known whether it raises cancer risk. Decisions are usually based on your family history, not on the VUS itself, and the variant may be reclassified later.
• No variant found: no harmful change was found in BRCA1 or BRCA2 by these methods. This lowers but does not remove the chance of an inherited cancer risk, especially if you have a strong family history, because other genes can be involved.

Children of someone with a BRCA variant have a 1 in 2 chance of inheriting it. Your doctor or genetic counsellor can help you share the result with your family.