Spastin (SPAST) gene sequencing test
GTR Test Accession: Help GTR000508872.3
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; ...
Hereditary spastic paraplegia 4
Genes (1): Help
SPAST (2p22.3)
Molecular Genetics - Sequence analysis of the entire coding region: Bi-directional Sanger Sequence Analysis
Hereditary Spastic Paraplegia patients
Not provided
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Test short name: Help
SPG4
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
Test Order Code: Help
28-28
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 additional service: Help
Custom Prenatal Testing
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: 1
Method Category Help
Test method Help
Instrument
Sequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
Applied Biosystems 3130xl genetic analyser
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Pre-symptomatic; Risk Assessment
Clinical utility: Help
Target population: Help
Hereditary Spastic Paraplegia patients
View citations (1)
  • Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia. Hazan J, et al. Nat Genet. 1999;23(3):296-303. doi:10.1038/15472. PMID: 10610178.
Recommended fields not provided:
Technical Information
Test Procedure: Help
PCR amplification and automated sequence analysis of the spastin (SPAST) gene exons 1 to 17. Primer sequences used for this analysis were designed by us and are available upon request. Both forward and reverse sequence analyses are performed using the Applied Biosystems Big Dye Terminator V1.1 cycle sequencing kit and … View more
View citations (1)
  • Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia. Hazan J, et al. Nat Genet. 1999;23(3):296-303. doi:10.1038/15472. PMID: 10610178.
Test Confirmation: Help
different method or new sample
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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