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BrainTumorNext (27 genes) logo

Is BrainTumorNext the right test for you?

If you have several close relatives who have brain tumours, a known gene mutation associated with brain tumour in your family or maybe you have already received a diagnosis, this test could help you make key decisions about screening or treatment.

It involves analysis of a 27 gene panel designed to provide more precise data to guide you about risk prevention and screening programmes – as well as helping you decide about treatment options such as avoiding radiation therapy for TP53 mutation carriers.

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

Would more frequent screening help you?

This test can help your clinician decide at what age and how often you should have screening for brain tumour and other cancers

Screening/management of non-nervous system symptoms

It can also provide guidance for your clinician about carrying out other kinds of testing for symptoms of brain tumour – such as arm and leg strength, reflexes such as your knee-jerk reflex, hearing and vision, skin sensitivity, balance and co-ordination and memory and mental agility.

Your family

This test can also indicate if other member of your family may have hereditary risk of developing brain tumours or other cancers – and therefore what steps they need to take for further screening or monitoring.

You can discuss this with your clinician, or if you would like to talk to one of our experts about the test, call us on +44 (0) 7495 981816

 

How?Close tab

What do I need to do?

It’s usually a simple ‘spit test’ – all we need is your saliva. You’ll receive a kit with clear instructions ongiving your sample.

 

ProcessClose 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: Analysis and reporting

Your sample will be analysed and a report will be generated, usually within four to five weeks of receipt of your sample in the laboratory.

Step 4: Results

Your clinician will receive the test report giving a clear indication of whether you are at risk of brain tumour or if you have already been diagnosed, what steps you – and possibly other members of your family – need to take next

 

CliniciansClose tab

Is BrainTumorNext the right test for your patient?

BrainTumorNext is a next generation sequencing panel that simultaneously analyses 27 genes associated with increased risk for brain tumours and other cancers/tumours.

When to consider testing

  • Early-onset brain tumour(s) (diagnosed <50 years of age)
  • Multiple primary cancers in one person (e.g. brain tumour and colorectal cancer)
  • Multiple close relatives* with brain tumours
  • A family history of a mutation in a gene that predisposes to brain tumours

* On the same side of the family

Mutation Distribution and Detection Rates

BrainTumorNext can detect >99.9% of described mutations in the included genes, when present (analytic sensitivity).

Test Description

BrainTumorNext analyses 27 genes. All genes are evaluated by next generation sequencing (NGS) or Sanger sequencing of all coding domains, and well into the flanking 5’ and 3’ ends of all the introns and untranslated regions. In addition, sequencing of the promoter region is performed for the following genes: PTEN (c.-1300 to c.-745), MLH1 (c.-337 to c.-194), and MSH2 (c.-318 to c.-65). The inversion of coding exons 1-7 of the MSH2 gene is detected by NGS and confirmed by PCR and agarose gel electrophoresis. For ALK, only variants located within the kinase domain (c.3286-c.4149) are reported.

For PHOX2B, the polyalanine repeat region is excluded from analysis. 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. 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 sequencing.1 Gross deletion/duplication analysis is performed for the covered exons and untranslated regions of all 27 genes using read-depth from NGS data with confirmatory multiplex ligation-dependent probe amplification (MLPA) and/or targeted chromosomal microarray. For APC, all promoter 1B gross deletions as well as single nucleotide substitutions within the promoter 1B YY1 binding motif are analysed and reported. If a deletion is detected in exons 13, 14, or 15 of PMS2, double stranded sequencing of the appropriate exon(s) of the pseudogene, PMS2CL, will be performed to determine if the deletion is located in the PMS2 gene or pseudogene.

  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:

Ambry Genetics

Frequently asked questions

Do I need a doctor to authorise this test?
Yes, your doctor will need to provide the sample required for this test.
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 accurate is the test?
All our partners follow advanced laboratory procedures and ensure quality control to deliver accurate results you can trust.