Meningiomatosis/Multiple Meningioma Panel by Next-Generation Sequencing (MEN-NG)
Information for Ordering
Acceptable Specimen Types
- Fresh blood sample: 3–6 mL EDTA; no time limitations associated with receipt
- Saliva: OGD-575 DNA Genotek collection kit; kits are provided upon request
- DNA extracted from lymphocyte cells: minimum volume of 25 µL containing 3 µg of DNA; A260/A280 ratio ≥1.8; must be extracted in a CLIA-certified or equivalent laboratory
- Flash-frozen tumor shipped on dry ice
- Fresh tumor or affected-tissue biopsy immersed in sterile culture media, such as PBS or RPMI
Turnaround Time
- Blood, saliva, or DNA: Average of 30 working days
- Fresh or frozen tumor: Average of 50 working days
Price, CPT Codes, and Z Code
- Institutional/self-pay price for blood, saliva, or DNA: $1,500 USD
- Institutional/self-pay price for fresh or frozen tumor: $2,500 USD
- CPT codes: 81406, 81405, and 81479 × 2
- Z code: ZB67L
Candidates for Testing
Patients with clinical features suggestive of meningiomatosis or NF2-related schwannomatosis when meningiomas are part of the clinical presentation.
Specimen Shipping and Handling
Please refer to the specimen requirements listed above.
Blood, saliva, DNA, fresh tumor, and fresh-tissue biopsy specimens should be shipped at room temperature unless otherwise directed by the laboratory. Flash-frozen tumor specimens must be shipped on dry ice.
Specimens must be packaged to prevent breakage. Absorbent material must be included to contain liquids if breakage occurs. Specimens must also be shipped in double watertight containers, such as a specimen pouch placed inside the shipping company’s diagnostic envelope.
To request a collection kit, please complete the Collection Kit Request Form .
Please complete the Fresh/Frozen Tumor Submission Checklist when submitting tumor specimens.
Before shipping a specimen, please contact the UAB Medical Genomics Laboratory by email at medgenomics@uabmc.edu or by phone at 205-934-5562. Please provide the specimen type, shipment date, and package tracking number so the laboratory can help ensure proper and timely receipt.
Required Forms
About
Disorder Background
A meningioma diagnosed during childhood may be the first presenting feature of NF2-related schwannomatosis.
In addition to NF2, germline SMARCB1 variants have been identified in patients with meningiomas, with or without schwannomas. Germline variants in SUFU have also been identified in some families with meningiomatosis.
Germline SMARCE1 variants are associated with a tumor-predisposition syndrome characterized by an increased risk of spinal and intracranial clear cell meningiomas. Clear cell meningiomas occur more frequently in younger individuals and are classified as WHO grade 2 because of their more aggressive behavior.
Because multiple meningiomas may be associated with several tumor-predisposition syndromes with overlapping clinical features, establishing a clinical diagnosis can be challenging. A panel-based testing approach allows simultaneous evaluation of the primary genes associated with these conditions.
Test Description
The Meningiomatosis/Multiple Meningioma Panel by NGS involves simultaneous sequencing of four genes: NF2, SMARCB1, SMARCE1, and SUFU.
The test uses a customized and optimized set of Agilent HaloPlex capture probes, followed by sequencing of overlapping amplicons within the regions of interest using 300 bp paired-end Illumina sequencing chemistry. Each coding exon plus approximately 50 bp of flanking intronic sequence is simultaneously sequenced. The 5′ and 3′ untranslated regions are not included.
Average coverage is greater than 1,500×, with more than 99% of the coding region covered at ≥350× and 100% covered at ≥200×. This permits detection of low-level mosaicism down to approximately a 3% variant allele fraction within sufficiently covered regions, with greater than 95% confidence.
Variant and copy-number calls are made using a specialized bioinformatics pipeline that detects single-nucleotide substitutions, insertions, deletions, and frameshifts caused by deletions or duplications up to 112 bp.
Deletion/duplication analysis of NF2 and SMARCB1 is included because copy-number variants are part of the disease-associated variant spectrum for these genes. Deletion/duplication analysis is not offered for the other genes on this panel because current empirical and biological evidence is insufficient to establish altered copy number as a critical disease mechanism for their associated conditions.
View references for this testing .
Other Related Test Options
- Next-Generation Sequencing and Deletion/Duplication Analysis of NF2 Only (NF2-NG)
- Schwannomatosis/Multiple Schwannoma Panel by Next-Generation Sequencing (SCH-NG)
- Rhabdoid Tumor Predisposition Syndrome by Next-Generation Sequencing (RT-NG)
For more information, test requisition forms, or collection kits, please contact the UAB Medical Genomics Laboratory at 205-934-5562 or medgenomics@uabmc.edu.
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