Schwannomatosis

Schwannomatosis is a form of neurofibromatosis that causes growth of benign tumors, called schwannomas, along the spinal and peripheral nerves. Genetic testing for SMARCB1 can help confirm a diagnosis of schwannomatosis, which can lead to better management. 

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Test Code 7180
Turnaround Time (TAT) 14-21 days
Number of Genes 1
Specimen Requirements Click here

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Mutation Detection Rate

This test can detect >99.9% of described mutations in SMARCB1, when present (analytic sensitivity).

Test Description

SMARCB1 is 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. 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 SMARCB1 using read-depth from NGS data with confirmatory multiplex ligation-dependent probe amplification (MLPA) and/or targeted chromosomal microarray. 

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

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