Familial Meningioma via the SMARCE1 Gene
Summary and Pricing 
Test Method
Sequencing and CNV Detection via NextGen Sequencing using PG-Select Capture Probes| Test Code | Test Copy Genes | Test CPT Code | Gene CPT Codes Copy CPT Code | Base Price | |
|---|---|---|---|---|---|
| 7045 | SMARCE1 | 81479 | 81479,81479 | $990 | Order Options and Pricing |
Pricing Comments
Testing run on PG-select capture probes includes CNV analysis for the gene(s) on the panel but does not permit the optional add on of exome-wide CNV analysis. Any of the NGS platforms allow reflex to other clinically relevant genes, up to whole exome or whole genome sequencing depending upon the base platform selected for the initial test.
An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.
This test is also offered via a custom panel (click here) on our exome or genome backbone which permits the optional add on of exome-wide CNV or genome-wide SV analysis.
Turnaround Time
3 weeks on average for standard orders or 2 weeks 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.
Clinical Features and Genetics
Clinical Features
Meningiomas are tumors that develop in the meninges, the lining of the central nervous system (CNS). They are the most common CNS tumors where 90% occur in the cranial meninges and 10% occur in the spinal meninges (Smith et al. 2013). The majority of meningiomas are benign, although a subset are atypical (including clear cell) and less often become malignant (Miller Jr et al. 2014). Most meningiomas are asymptomatic and require no treatment, however, depending on the histological grade, treatment modalities such as surgery or radiotherapy can be performed (Walcott et al. 2013). Depending on meningioma location and size, clinical presentation can include seizures, headaches, spastic weakness in legs, and double vision (Cui et al. 2012; http://www.mayoclinic.org/).
Genetics
While most cases of meningiomas are sporadic, a subset of mengiomas is familial and is inherited in an autosomal dominant manner. Familial meningiomas are mainly caused by pathogenic variants in the NF2 gene with a corresponding NF2 phenotype, but are also caused by defects in the SMARCB1 and SUFU genes. Recently it has been reported that pathogenic variants in the SMARCE1 gene are associated with familial spinal and cranial clear cell meningiomas (Smith et al. 2013; Smith et al. 2014). The SMARCE1 gene encodes a protein that is part of the large ATP-dependent chromatin remodeling complex SWI/SNF and is involved in transcriptional regulation. Pathogenic variants in the SMARCE1 gene cause defective transcriptional regulation. Reported causative variants include nonsense variants, a splicing variant, small insertions, a gross deletion and a complex rearrangement (Smith et al. 2013; Smith et al. 2014; Raffalli-Ebezant et al. 2015). Meningiomas due to pathogenic variants in the SMARCE1 gene may exhibit incomplete penetrance in males, but those who do develop meningioma do so earlier than females (Smith et al. 2013; Smith et al. 2014).
Clinical Sensitivity - Sequencing with CNV PG-Select
The clinical sensitivity is unknown, however Sanger sequencing will be able to detect the majority of pathogenic variants previously reported.
Testing Strategy
This test provides full coverage of all coding exons of the SMARCE1 gene, plus ~10 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads or Sanger sequencing.
Indications for Test
This test is suitable for individuals with multiple meningiomas or a family history of these tumors. This test is specifically designed for heritable germline mutations and is not appropriate for the detection of somatic mutations in tumor tissue.
This test is suitable for individuals with multiple meningiomas or a family history of these tumors. This test is specifically designed for heritable germline mutations and is not appropriate for the detection of somatic mutations in tumor tissue.
Gene
| Official Gene Symbol | OMIM ID |
|---|---|
| SMARCE1 | 603111 |
| Inheritance | Abbreviation |
|---|---|
| Autosomal Dominant | AD |
| Autosomal Recessive | AR |
| X-Linked | XL |
| Mitochondrial | MT |
Disease
| Name | Inheritance | OMIM ID |
|---|---|---|
| Meningioma, Familial | AD | 607174 |
Citations
- Cui H, Shi H, Chen X, Wang W, Lai R, Han A. 2012. Clinicopathological Features of Meningioangiomatosis Associated with Meningioma: A Case Report with Literature Review. Case Reports in Oncological Medicine 2012: 1–5. PubMed ID: 23198201
- Mayo Clinic
- Miller Jr R, DeCandio ML, Dixon-Mah Y, Giglio P, Vandergrift III WA, Banik NL, Patel SJ, Varma AK, Das A. 2014. Molecular Targets and Treatment of Meningioma. Journal of neurology and neurosurgery 1:1-15. PubMed ID: 25485306
- Raffalli-Ebezant H, Rutherford SA, Stivaros S, Kelsey A, Smith M, Evans DG, Kilday J-P. 2015. Pediatric intracranial clear cell meningioma associated with a germline mutation of SMARCE1: a novel case. Child’s Nervous System 31: 441–447. PubMed ID: 25249420
- Smith MJ, O’Sullivan J, Bhaskar SS, Hadfield KD, Poke G, Caird J, Sharif S, Eccles D, Fitzpatrick D, Rawluk D, Plessis D du, Newman WG, Evans DG. 2013. Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas. Nature Genetics 45: 295–298. PubMed ID: 23377182
- Smith MJ, Wallace AJ, Bennett C, Hasselblatt M, Elert-Dobkowska E, Evans LT, Hickey WF, Hoff J van, Bauer D, Lee A, Hevner RF, Beetz C, du Plessis D, Kilday JP, Newman WG, Evans DG. 2014. Germline SMARCE1 mutations predispose to both spinal and cranial clear cell meningiomas. The Journal of Pathology 234: 436–440. PubMed ID: 25143307
- Walcott BP, Nahed BV, Brastianos PK, Loeffler JS. 2013. Radiation Treatment for WHO Grade II and III Meningiomas. Frontiers in Oncology 3: PubMed ID: 24032107
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
If ordering a Duo or Trio test, the proband and all comparator samples are required to initiate testing. If we do not receive all required samples for the test ordered within 21 days, we will convert the order to the most effective testing strategy with the samples available. Prior authorization and/or billing in place may be impacted by a change in test code.
Specimen Types
Specimen Requirements and Shipping Details
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ORDER OPTIONS
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