Schwannomatosis - Ambry Genetics

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Neurology

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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.

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.

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.

Genes analyzed

7180

Schwannomatosis

5-14 days

1 Gene

Schwannomatosis

1 Gene

SMARCB1

Test Requisition Form

Neurology

Mutation Detection Rate

>99.9%

Schwannomatosis

can detect the 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.

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, exome testing, or whole genome testing at Ambry Genetics and are found to have a pathogenic or likely pathogenic variant. Testing must be completed within 180 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.