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Schwannomatosis Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
10107 LZTR1 81479,81479 Order Options and Pricing
SMARCB1 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
10107Genes x (2)81479 81479(x4) $890 Order Options and Pricing

Pricing Comments

We are happy to accommodate requests for testing single genes in this panel or a subset of these genes. The price will remain the list price. If desired, free reflex testing to remaining genes on panel is available. Alternatively, a single gene or subset of genes can also be ordered via our Custom Panel tool.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

Click here for costs to reflex to whole PGxome (if original test is on PGxome Sequencing backbone).

Click here for costs to reflex to whole PGnome (if original test is on PGnome Sequencing backbone).

Turnaround Time

18 days on average for standard orders or 13 days on average for STAT orders.

Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn more about turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.

EMAIL CONTACTS

Genetic Counselors

Geneticist

  • Brett Deml, PhD

Clinical Features and Genetics

Clinical Features

Schwannomatosis is a tumor predisposition syndrome with overlapping clinical features with those of neurofibromatosis type 2 (NF2). Schwannomatosis is characterized by multiple schwannomas on cranial, spinal and peripheral nerves, similar to NF2. It can be distinguished from NF2 by the absence of vestibular schwannomas (BVS) and vision abnormalities. Schwannomatosis is clinically heterogeneous. Pain is the first symptom and usually begins during the third decade of life. However, painful skin lumps may develop during the second decade of life in affected individuals. Additional features include numbness, tingling, or weakness in the fingers and toes. Although, patients with schwannomatosis rarely develop other types of tumors, meningiomas have been reported in rare cases (Bacci et al. 2010; Christiaans et al. 2011). It was therefore suggested that meningiomas should be included in the phenotype of schwannomatosis (Bacci et al. 2010; Van Den Munckhof et al. 2012).

Schwannomatosis is a pan-ethnic condition with an incidence of approximately 1 in 40,000 live births (Plotkin et al. 2013).

Genetics

About 15% of Schwannomatosis cases are familial. In these families, the condition is inherited in an autosomal dominant manner with variable expressivity and reduced penetrance. The remaining cases appear to be sporadic with no known affected relatives (Plotkin et al. 2013).

Schwannomatosis is caused by heterozygous germline variants in the SMARCB1 gene (Hulsebos et al. 2007) or the LZTR1 gene (Piotrowski et al. 2014; Paganini et al. 2015). To date, about 30 SMARCB1 and 50 LZTR1 variants have been reported in patients with Schwannomatosis. These variants are distributed along the entire coding regions of the genes, and include most types. They were found in patients from various ethnic groups. Large pathogenic germline deletions and duplications appear to be a rare cause of schwannomatosis. To date, only such pathogenic large duplication has been reported in the SMARCB1 gene (Hulsebos et al. 2016). Large pathogenic deletions or duplications in the LZTR1 gene have not been reported (Human Gene Mutation Database).

LZTR1 encodes leucine zipper-like transcriptional regulator 1, a member of the BTB-kelch superfamily. The tumor suppressor SMARCB1 encodes a subunit of the SWI/SNF ATP-dependent chromatin-remodeling complex (Euskirchen et al. 2012).

Clinical Sensitivity - Sequencing with CNV PGxome

Pathogenic SMARCB1 variants account for about 50% of clinically diagnosed familial cases (Boyd et al. 2008) and 10% of sporadic cases (Rousseau et al. 2011).

Pathogenic LZTR1 variants account for about 43% of clinically diagnosed familial cases and 30% of sporadic cases (Paganini et al. 2015).

Large deletions or duplications in the SMARCB1 and LZTR1 gene appear to be a rare cause of shwannomatosis. To date, only one pathogenic large duplication in the SMARCB1 gene has been reported in a patient with shwannomatosis (Hulsebos et al. 2016). Pathogenic large deletions or duplications in the LZTR1 gene have not been reported (Human Gene Mutation Database).

Testing Strategy

This test is performed using Next-Gen sequencing with additional Sanger sequencing as necessary.

This panel provides 100% coverage of all coding exons of the genes plus 10 bases of flanking noncoding DNA in all available transcripts along with other non-coding regions in which pathogenic variants have been identified at PreventionGenetics or reported elsewhere. We define coverage as ≥20X NGS reads or Sanger sequencing. PGnome panels typically provide slightly increased coverage over the PGxome equivalent. PGnome sequencing panels have the added benefit of additional analysis and reporting of deep intronic regions (where applicable).

Dependent on the sequencing backbone selected for this testing, discounted reflex testing to any other similar backbone-based test is available (i.e., PGxome panel to whole PGxome; PGnome panel to whole PGnome).

Indications for Test

Patients presenting with a clinical diagnosis of schwannomatosis. Patients with clinical diagnosis of neurofibromatosis type 2 and absence of vestibular schwannoma (BVS) are also candidates for this panel.

Genes

Official Gene Symbol OMIM ID
LZTR1 600574
SMARCB1 601607
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Diseases

Name Inheritance OMIM ID
Schwannomatosis 1 AD 162091
Schwannomatosis 2 AD 615670

Related Test

Name
PGxome®

Citations

  • Bacci C. et al. 2010. Neurogenetics. 11: 73-80. PubMed ID: 19582488
  • Boyd C. et al. 2008. Clinical Genetics. 74: 358-366. PubMed ID: 18647326
  • Christiaans I. et al. 2011. Journal of Medical Genetics. 48: 93-7. PubMed ID: 20930055
  • Euskirchen G. et al. 2012. The Journal of Biological Chemistry. 287: 30897-905. PubMed ID: 22952240
  • Hulsebos T.J. et al. 2007. American Journal of Human Genetics. 80: 805-10. PubMed ID: 17357086
  • Hulsebos T.J. et al. 2016. Genes, Chromosomes & Cancer. 55: 350-4. PubMed ID: 26799435
  • Human Gene Mutation Database (Bio-base).
  • Paganini I. et al. 2015. European Journal of Human Genetics : Ejhg. 23: 963-8. PubMed ID: 25335493
  • Piotrowski A. et al. 2014. Nature Genetics. 46: 182-7. PubMed ID: 24362817
  • Plotkin S.R. et al. 2013. American Journal of Medical Genetics. Part A. 161A: 405-16. PubMed ID: 23401320
  • Rousseau G. et al. 2011. Bmc Neurology. 11: 9. PubMed ID: 21255467
  • van den Munckhof P. et al. 2012. Neurogenetics. 13: 1-7. PubMed ID: 22038540

Ordering/Specimens

Ordering Options

We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

myPrevent - Online Ordering

  • The test can be added to your online orders in the Summary and Pricing section.
  • Once the test has been added log in to myPrevent to fill out an online requisition form.
  • PGnome sequencing panels can be ordered via the myPrevent portal only at this time.

Requisition Form

  • A completed requisition form must accompany all specimens.
  • Billing information along with specimen and shipping instructions are within the requisition form.
  • All testing must be ordered by a qualified healthcare provider.

For Requisition Forms, visit our Forms page


Specimen Types

Specimen Requirements and Shipping Details

PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

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ORDER OPTIONS

View Ordering Instructions

1) Select Test Method (Backbone)


1) Select Test Type


2) Select Additional Test Options

STAT and Prenatal Test Options are not available with Patient Plus.

No Additional Test Options are available for this test.

Note: acceptable specimen types are whole blood and DNA from whole blood only.
Total Price: $
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