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. 
Quick Reference
Test Code 7180
Turnaround Time (TAT) 14-21 days
Number of Genes 1

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We offer family variant testing at no additional cost

for all blood relatives of patients who undergo full single gene sequencing or multigene panel testing* at Ambry Genetics and are found to have a pathogenic or likely pathogenic variant. No-cost testing of blood relatives must be completed within 90 days of the original Ambry report date.

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*excludes Secondary Findings and SNP Array tests

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

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