Overview
Test order codeHelpLaboratory's order or catalog code for the test (used in the order requisition form).: NF2-NG
Neurofibromatosis Type 2 (NF2) Next Genetration Sequencing and Deletion/Duplication Testing (NF2-NG)
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis, Mutation Confirmation
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Additional information regarding the specific details needed for test submission can be found on our website
Order URL HelpLink to the laboratory webpage with information about how to order this test. Please note that clicking on this link will open a new tab in your internet browser.: https://www.uab.edu/medicine/genetics/medical-genomics-laboratory/testing-services/nf2-meningiomas-schwannomas-and-peripheral-nerve-sheath-tumors/nf2-only-by-ngs
Specimen source
Fibroblasts
Fresh tissue
Frozen tissue
Isolated DNA
Peripheral (whole) blood
Saliva
- Molecular Genetics
- LLinkage analysis
- Multiplex Ligation-dependent Probe Amplification (MLPA)
- CSequence analysis of the entire coding region
- Next-Generation (NGS)/Massively parallel sequencing (MPS)
Summary of what is tested
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information.
Establish or confirm diagnosis
Not provided
The NF2-only by NGS involves sequencing as well as deletion/duplication analysis of the entire coding NF2 region. The test uses an extensively customized and optimized set of Agilent HaloPlex capture probes, followed by sequencing of overlapping amplicons within the regions of interest using 300bp paired-end Illumina sequencing chemistry. Each coding exon plus ~50bp of flanking intronic sequence are simultaneously sequenced. 5’ and 3’ untranslated sequences are not included.
The average coverage is >2200x with 100% of the NF2 coding region ≥350x. The This allows for detection of very low-level mosaicism by sequencing (as low as 3% of the alleles in 100% of the coding region with >95% confidence). Variant and copy number calls are made using a unique bioinformatics pipeline detecting all types of variants including single nucleotide substitutions, indels, and frameshifts caused by deletion/ duplication up to 112bp. Deletion/duplication analysis for NF2 is included in this test, as such variants are a part of the variant spectrum for these conditions.
Variant detection rate in leukocytes is >90% in non-founder NF2 patients. Variants detected include truncating (nonsense, frameshift, splicing variants), missense variants, multi-exon deletions or duplications and total gene deletions. 000 Additional information regarding the specific details needed for test submission can be found on our website