Detection of the N88S and S90L mutations in exon 3 … see more Detection of the N88S and S90L mutations in exon 3 of the BSCL2 gene  see less
GTR Test Accession: Help GTR000508869.3
INHERITED DISEASENERVOUS SYSTEM
Last updated in GTR: 2015-11-26
Last annual review date for the lab: 2021-01-29 Past due LinkOut
At a Glance
Diagnosis; Mutation Confirmation; Pre-symptomatic; ...
Neuronopathy, distal hereditary motor, type 5A
Genes (1): Help
BSCL2 (11q12.3)
Molecular Genetics - Targeted variant analysis: Bi-directional Sanger Sequence Analysis; Restriction enzyme analysis
Spinal Muscular Atrophy patients
Not provided
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Test short name: Help
HMN5
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
Test Order Code: Help
28-24
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
How to Order: Help
Completion of the laboratory referral letter by the referring physician/scientist. Provision of a signed informed consent form. Both forms are available on the laboratory website.
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Yes
Pre-test genetic counseling required: Help
Yes
Post-test genetic counseling required: Help
Yes
Recommended fields not provided:
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
Targeted variant analysis
Bi-directional Sanger Sequence Analysis
Applied Biosystems 3130xl genetic analyser
Targeted variant analysis
Restriction enzyme analysis
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Pre-symptomatic; Risk Assessment
Clinical utility: Help
Target population: Help
Spinal Muscular Atrophy patients
View citations (2)
  • Windpassinger C, Auer-Grumbach M, Irobi J, Patel H, Petek E, Hörl G, Malli R, Reed JA, Dierick I, Verpoorten N, Warner TT, Proukakis C, Van den Bergh P, Verellen C, Van Maldergem L, Merlini L, De Jonghe P, Timmerman V, Crosby AH, Wagner K. Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. Nat Genet. 2004;36(3):271-6. doi:10.1038/ng1313. Epub 2004 Feb 22. PMID: 14981520.
  • Irobi J, Van den Bergh P, Merlini L, Verellen C, Van Maldergem L, Dierick I, Verpoorten N, Jordanova A, Windpassinger C, De Vriendt E, Van Gerwen V, Auer-Grumbach M, Wagner K, Timmerman V, De Jonghe P. The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V. Brain. 2004;127(Pt 9):2124-30. doi:10.1093/brain/awh232. Epub 2004 Jul 08. PMID: 15242882.
Recommended fields not provided:
Technical Information
Test Procedure: Help
PCR amplification and automated sequence analysis of the Berardinelli-Seip congenital lypodystrophy (BSCL2, seipin) gene exon 3 in order to investigate the presense of either the N88S or the S90L mutations that have been associated with the dSMA type V phenotype. The primer sequences used for this analysis were designed by … View more
View citations (2)
  • Windpassinger C, Auer-Grumbach M, Irobi J, Patel H, Petek E, Hörl G, Malli R, Reed JA, Dierick I, Verpoorten N, Warner TT, Proukakis C, Van den Bergh P, Verellen C, Van Maldergem L, Merlini L, De Jonghe P, Timmerman V, Crosby AH, Wagner K. Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. Nat Genet. 2004;36(3):271-6. doi:10.1038/ng1313. Epub 2004 Feb 22. PMID: 14981520.
  • Irobi J, Van den Bergh P, Merlini L, Verellen C, Van Maldergem L, Dierick I, Verpoorten N, Jordanova A, Windpassinger C, De Vriendt E, Van Gerwen V, Auer-Grumbach M, Wagner K, Timmerman V, De Jonghe P. The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V. Brain. 2004;127(Pt 9):2124-30. doi:10.1093/brain/awh232. Epub 2004 Jul 08. PMID: 15242882.
Test Confirmation: Help
different method or new sample
Test Comments: Help
Mutation: N88S & S90L
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
99% precise
Assay limitations: Help
This test detects small scale mutations but it will not detect a large scale deletion of an entire exon or the whole gene.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
European Molecular Genetics Quality Network, EMQN
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Category: Not Applicable
Additional Information

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