Spastic paraplegia: Full gene sequencing panel
GTR Test Accession: Help GTR000568021.1
Last updated in GTR: 2019-06-18
Last annual review date for the lab: 2023-12-05 LinkOut
At a Glance
Diagnosis; Mutation Confirmation; Risk Assessment
MASA syndrome; Autosomal recessive complex spastic paraplegia type 9B; Autosomal recessive spastic paraplegia type 76; ...
ALDH18A1 (10q24.1), AMPD2 (1p13.3), AP4B1 (1p13.2), AP4E1 (15q21.2), AP4M1 (7q22.1), ...
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Not provided
Not provided
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Ordering Information
Offered by: Help
CEN4GEN Institute for Genomics and Molecular Diagnostics
View lab's website
Specimen Source: Help
Who can order: Help
  • Health Care Provider
Test Order Code: Help
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
Informed consent required: Help
Pre-test genetic counseling required: Help
Post-test genetic counseling required: Help
Recommended fields not provided:
Conditions Help
Total conditions: 55
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 54
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Total methods: 1
Method Category Help
Test method Help
Instrument *
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; Risk Assessment
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
The analytical validity for this analysis is 99%.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Category: Not Applicable
Additional Information

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