BrainTumorNext ®

BrainTumorNext is a next generation sequencing panel that simultaneously analyzes 29 genes associated with increased risk for brain tumors and other cancers/tumors.
Quick Reference
Test Code 8847
Turnaround Time (TAT) 14-21 days
Number of Genes 29


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Ordering Options

We offer family variant testing at no additional cost

We offer family variant testing for all blood relatives of patients who undergo full single gene sequencing, multigene panel testing or exome sequencing at Ambry Genetics and are found to have a pathogenic or likely pathogenic variant. Testing must be completed within 90 days of the original report date. Whenever possible, more closely related relatives should be tested before more distant relatives. If you or a family member are interested in learning more about our family testing program or when family testing may be clinically indicated, please contact us or your provider for additional information. Note that Ambry can only provide such family testing services to patients receiving medical care in the U.S or US territories.

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Why Is This Important?

  1. Ability to modify surveillance options and age of initial screening 
  2. Consideration of risk-reduction measures for your patient and/or their family members
  3. Referral to other specialists for screening/management of non-nervous system symptoms, as needed
  4. Availability of tailored treatment options (e.g. avoid radiation-based therapy for TP53 mutation carriers)
  5. Identification of at-risk family members

When To Consider Testing

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

    * On the same side of the family

Mutation Detection Rate

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

Test Description

BrainTumorNext analyzes 29 genes (listed above). All genes (excluding EPCAM) 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. The inversion of coding exons 1-7 of the MSH2 gene is detected by NGS and confirmed by MLPA. For ALK, only variants located within the kinase domain (c.3286-c.4149) are routinely 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. Potentially homozygous variants, variants in regions complicated by pseudogene interference, and variant calls not satisfying depth of coverage and variant allele frequency quality thresholds are verified by Sanger sequencing.  Gross deletion/duplication analysis is performed for the covered exons and untranslated regions of all sequenced genes using read-depth from NGS data with confirmatory multiplex ligation-dependent probe amplification (MLPA) and/or targeted chromosomal microarray. For EPCAM, only gross deletions encompassing the 3’ end of the gene are reported. For APC, all promoter 1B gross deletions as well as single nucleotide substitutions within the promoter 1B YY1 binding motif (NM_001127511 c.-196_c.-186) are analyzed and reported. Gross deletion/duplication analysis of PMS2 is performed using MLPA. 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. 

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