Is the Rapid BRCAtest 1/2 what you need?
This is one of two tests we offer which analyses the specific genes – BRCA1 and BRCA2 – associated with increased risk of developing common cancers: breast, melanoma, pancreatic, prostate and ovarian.
If you have already been diagnosed with cancer, this test is a rapid analysis that can help you make vital decisions about your treatment – particularly if you a considering surgical options.
To get this test you will first need a consultation with your clinician, then you can either:
- Buy it directly from this website (this cost may be covered by your medical insurance).
- Access it through your treating hospital/private healthcare provider.
This test is only available to those aged 18 years or above.
- Why?►Close tab
Helping you make decisions
All of us have a 1 in 2 lifetime risk of developing cancer, but some – breast, melanoma, pancreatic, prostate and ovarian – are known to occur more frequently in families, passing from one generation to the next.
When certain inherited gene mutations are present in your DNA, it highlights not only that you have a higher than average risk of developing these cancers – but if you have already been diagnosed, it can indicate whether your cancer is more likely to recur after treatment, or if you are at greater than average risk of developing other cancers subsequently.
The key aspect of this test is speed: results from our regular BRCA1/2 test – which analyses risk levels in a healthy person with no symptoms – takes three to four weeks. This Rapid test takes six to 10 working days.
If you need to make urgent decisions about treatment – perhaps in the case of breast cancer whether to have a lump removed or a full or partial mastectomy – this test can give you and your clinician the vital knowledge to make an informed decision quickly.
For your family
It’s also important to share the test analysis with your family: because this test is about genetically inherited mutations, there could be implications for them too. For example, if a man or woman carries a mutation in BRCA1, each of their parents (mother and father), siblings (brothers and sisters) and children (sons and daughters) have a 50% chance of carrying the same mutation. Knowing if this gene mutation is in the family means everyone can ensure they receive regular monitoring and screening.
- How?►Close tab
What do I have to do?
This test is an analysis of your blood, so your Clinician will need to take a blood sample from you.
- Process►Close tab
Buying the test
Step 1: There are two options:
- Via your treating hospital/private healthcare provider (we have special arrangements with many healthcare providers to enable you to access this test, click here to see the list)
- By clicking the ‘Buy direct now’ button above (the cost may be covered by your medical insurance – check your policy details)
Step 2: Collection of sample
We will liaise directly with your clinician and organise the collection of your sample and delivery to the laboratory.
Step 3: Reporting
Your sample will be analysed and a report will be generated, usually within six to 10 working days of their receipt in the laboratory.
Step 4: Results
Your results will be sent straight to your Clinician who will contact you to discuss your results and their implications for you.
Note: If there is some reason why you cannot give a blood sample, a less invasive way to provide a sample is using saliva – if necessary, your Clinician can discuss this option with you.
- Clinicians►Close tab
Rapid BRCA Test 1/2 Information for clinicians
The Ambry approach
Ambry places significant value on implementing new lab processes designed to increase quality, and advancing technology across its field with innovative approaches.
Its ongoing participation in numerous research studies and collaborations is designed to help its scientists better assess clinical validity of gene-disease relationships. This is to ensure that the results healthcare providers receive are as accurate and informative as possible: the more accurate the reports, the more insight it can provide you, the Clinician, to treat your patients.
In 2016, Ambry led the largest study of its kind (20,000 cases) to give guidance on additional confirmatory testing: it found specific well-defined thresholds, reducing the chance of delivering a false positive patient report or one that misses real mutations (Mu et al., November 2016).
Ambry Genetics is both CAP-accredited and CLIA-approved.
Its methodology is to detect large deletions and duplications, primarily from next generation sequencing, using additional methods such as MLPA and arrayCGH for confirmation, and as needed for increased detection. Its methods of detecting deletions and duplications have been validated through extensive research of over 30,000 samples analysed using arrayCGH and NGS.
Ambry scientists say: ‘In our research, we identified over 13,000 deletions, duplications, and other structural variants using both methodologies.
‘Our data shows that high quality NGS data can be used to detect these alterations as accurately, if not better, than standalone arrayCGH. We are always optimizing our technology and our detection because at the end of the day, it’s the actionable results we give healthcare providers to better care for their patients that matters most.’
Angelina Jolie’s decision to have genetic testing for the BRCA1 gene and subsequently undergo risk reducing mastectomy has greatly increased awareness of the personised health information that can now be obtained in the UK.
This Rapid BRCA 1/2 gene test (one of three hereditary cancer tests we offer) specifically analyses the inherited genetic mutations in the genes BRCA1 and BRCA2 which are associated with increased risk of developing common cancers: breast, melanoma, pancreatic, prostate and ovarian.
If your patient has already been diagnosed with cancer, this test is a fast track analysis that can help inform vital decisions about their treatment – particularly when considering surgical options.
The difference between this test and both our BRCA 1 /2 test is that it takes only six to ten days to obtain the analysis. It can indicate if the cancer is more likely to recur after treatment, or if they have a greater than average risk of developing other cancers subsequently. In the case of breast cancer, it can help guide the decision of whether to have a lump removed or whether to have a full or partial mastectomy.
To find out more, contact us on 01270 623 179
- Test Description
BRCA1 coding exons 1-22, BRCA2 coding exons 1-26, and well into the 5’ and 3’ ends of all the introns and untranslated regions are analysed by sequencing. Gross deletion/duplication analysis determines gene copy number for BRCA1 coding exons 1-22 and BRCA2 coding exons 1-26. Clinically significant intronic findings beyond 5 base pairs are always reported. Intronic variants of unknown or unlikely clinical significance are not reported beyond 5 base pairs from the splice junction. Genomic deoxyribonucleic acid (gDNA) is isolated from the patient’s specimen using a standardised methodology and quantified. Sequence enrichment of the targeted coding exons and adjacent intronic nucleotides is carried out by a bait-capture methodology using long biotinylated oligonucleotide probes followed by polymerase chain reaction (PCR) and Next-Generation sequencing. Additional Sanger sequencing is performed for any regions missing or with insufficient read depth coverage for reliable heterozygous variant detection. Reportable small insertions and deletions, potentially homozygous variants, variants in regions complicated by pseudogene interference, and single nucleotide variant calls not satisfying 100x depth of coverage and 40% het ratio thresholds are verified by Sanger sequencing1. Gross deletion/duplication analysis of BRCA1 and BRCA2 using the multiplex ligation-dependent probe amplification (MLPA) kit is also performed.
1. Mu W, et al. Sanger confirmation is required to achieve optimal sensitivity and specificity in next-generation sequencing panel testing. J Mol Diagn. 2016. 18(6):923-932.
This test is provided by:
Frequently asked questions
- Do I need a doctor to authorise this test?
- We advise you discuss this with your doctor – and you will need a healthcare professional to take a blood sample and send it to our laboratory.
- Will my health insurance cover the cost of this test?
- Many health insurance plans cover the cost of genetic testing – check with your provider to find out if it is in your policy.
- How soon do I get my results?
- Usually within six to ten working days of receipt of your kit in the laboratory.
- How accurate is the test?
- Ambry follows advanced laboratory procedures and ensures quality control to deliver accurate results you can trust.