Classic view of this page
NF2-related Schwannomatosis Comprehensive Testing from Paraffin Embedded Biopsy Specimen
Clinical Genetic Test
Help
offered by
UAB Medical Genomics Laboratory
View lab's test page
LinkOut
GTR Test Accession: Help GTR000500116.10
INHERITED DISEASEINHERITED DISEASE SUSCEPTIBILITYCANCER ... View more
Last updated in GTR: 2023-06-07
View version history
Last annual review date for the lab: 2023-06-07 Past due LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation
Conditions (1): Help
Neurofibromatosis, type 2
Genes (1): Help
NF2 (22q12.2)
Methods (2): Help
Molecular Genetics - Linkage analysis: Multiplex Ligation-dependent Probe Amplification (MLPA); ...
Target population: Help
Patients with one or more features associated with NF2-related schwannomatosis …
Clinical validity: Help
Not provided
Clinical utility: Help
Establish or confirm diagnosis
Ordering Information
Offered by: Help
UAB Medical Genomics Laboratory
View lab's website
View lab's test page
Test short name: Help
NF2-NG
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
Test Order Code: Help
NF2-NG
View other test codes
CPT codes: Help
**AMA CPT codes notice

Copyright: 2023 American Medical Association. All rights reserved.

Lab contact: Help
Brandon Shaw, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
brandonshaw@uabmc.edu
205-934-1520
Contact Policy: Help
Pre-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
How to Order: Help
Additional information regarding the specific details needed for test submission can be found on our website
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Custom Deletion/Duplication Testing
Result interpretation
Test development: Help
Test developed by laboratory but exempt from FDA oversight (eg. NYS CLEP approved, offered within a hospital or clinic)
Informed consent required: Help
Based on applicable state law
Test strategy: Help
We offer a comprehensive test using gDNA-based direct sequencing of all NF2 exons (and flanking acceptor donor intronic sequences) and MLPA analysis to detect copy number changes. Copy number changes are confirmed by quantitative PCR.
Using this approach, variant detection rate in leukocytes is >90% in non-founder NF2 patients. Variants … View more
View citations (1)
  • Should NF2 mutation screening be undertaken in patients with an apparently isolated vestibular schwannoma?. Evans DG, et al. Clin Genet. 2007;71(4):354-8. doi:10.1111/j.1399-0004.2007.00778.x. PMID: 17470137.
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 2
Method Category Help
Test method Help
Instrument *
Linkage analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)

Target population: Help
Patients with one or more features associated with NF2-related schwannomatosis without a family history of the condition and/or no variant was identified by blood based testing. For sporadic patients with multiple schwannomas but without vestibular nerve involvement and in whom NF2 variants are found in the tumor, we will only … View more
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
In order to further investigate a VUS, the laboratory will: 1. Review software predictions (SIFT, PolyPhen, etc) 2. Review internal database to compare against alterations seen in >10,000 alleles previously tested in laboratory 3. Offer free of charge family studies for any individuals that would provide useful information for interpretation

Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
Yes.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Yes.
Recommended fields not provided:
Clinical validity, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Test Procedure: Help
We offer a comprehensive test using gDNA-based NGS of all NF2 exons (and flanking acceptor donor intronic sequences) and MLPA analysis to detect copy number changes. Copy number changes are confirmed by quantitative PCR. Using this approach, variant detection rate in leukocytes is >90% in non-founder NF2 patients. Variants detected … View more
View citations (3)
  • Baser ME, Friedman JM, Aeschliman D, Joe H, Wallace AJ, Ramsden RT, Evans DG. Predictors of the risk of mortality in neurofibromatosis 2. Am J Hum Genet. 2002;71(4):715-23. doi:10.1086/342716. Epub 2002 Aug 22. PMID: 12235555.
  • Screening for large mutations of the NF2 gene. Kluwe L, et al. Genes Chromosomes Cancer. 2005;42(4):384-91. doi:10.1002/gcc.20138. PMID: 15645494.
  • Should NF2 mutation screening be undertaken in patients with an apparently isolated vestibular schwannoma?. Evans DG, et al. Clin Genet. 2007;71(4):354-8. doi:10.1111/j.1399-0004.2007.00778.x. PMID: 17470137.
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
We offer a comprehensive test using gDNA-based direct sequencing of all NF2 exons (and flanking acceptor.donor intronic sequences) and MLPA analysis to detect copy number changes. Copy number changes are confirmed by quantitative PCR. Using this approach, mutation detection rate in leukocytes is >90% in non-founder NF2 patients. Mutations detected … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Intra-Laboratory
VUS:
Software used to interpret novel variations Help
Alamut, Google search, PolyPhen, SIFT, evolutionary consevation, grantham score, splicing prediction software, disorder specific databases as necessary

Laboratory's policy on reporting novel variations Help
The laboratory will issue an interim report summarizing what is currently known about the variant and familial studies will be offered. Upon completion of the familial studies, a final report will be provided with a conclusion of what is suspected for the alteration.
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, PT Provider, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
Additional Information

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.