Spastin (SPAST) and Atlastin (ATL1) gene dosage evaluation by MLPA … see more Spastin (SPAST) and Atlastin (ATL1) gene dosage evaluation by MLPA analysis  see less
GTR Test Accession: Help GTR000508875.3
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; Hereditary spastic paraplegia 3A
Genes (2): Help
ATL1 (14q22.1), SPAST (2p22.3)
Molecular Genetics - Deletion/duplication analysis: Multiplex Ligation-dependent Probe Amplification (MLPA)
Hereditary Spastic Paraplegia
Not provided
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Test short name: Help
SPG4, SPG3A
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
Test Order Code: Help
28-30
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
Custom mutation-specific/Carrier 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: 2
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 2
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument
Deletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
Applied Biosystems 3130 Genetic Analyzer
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Pre-symptomatic; Risk Assessment
Clinical utility: Help
Target population: Help
Hereditary Spastic Paraplegia
View citations (1)
  • Improved testing for CMT1A and HNPP using multiplex ligation-dependent probe amplification (MLPA) with rapid DNA preparations: comparison with the interphase FISH method. Slater H, et al. Hum Mutat. 2004;24(2):164-71. doi:10.1002/humu.20072. PMID: 15241798.
Recommended fields not provided:
Technical Information
Test Procedure: Help
Multiplex ligation-dependent probe amplification [MLPA] and Applied Biosystems automated fragment analysis of the 1.5-Mb duplication/deletion region on chromosome 17p11.2, that is involved in duplication of the PMP22 gene causing Charcot-Marie-Tooth type 1 [CMT1A] or deletion of the PMP22 gene causing hereditary neuropathy with liability to pressure palsies [HNPP]. Duplication of … View more
View citations (1)
  • Improved testing for CMT1A and HNPP using multiplex ligation-dependent probe amplification (MLPA) with rapid DNA preparations: comparison with the interphase FISH method. Slater H, et al. Hum Mutat. 2004;24(2):164-71. doi:10.1002/humu.20072. PMID: 15241798.
Test Confirmation: Help
different method or new sample
Test Comments: Help
Mutation: PMP22 duplication
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
99% precise
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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