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Hereditary Spastic Paraplegia Related Inborn Errors of Metabolism Panel
Clinical Genetic Test
Help
offered by
GeneDx
GTR Test Accession: Help GTR000529136.1
INHERITED DISEASEMETABOLIC DISEASENERVOUS SYSTEM ... View more
Registered in GTR: 2016-01-22
View version history
Last annual review date for the lab: 2024-03-25 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Risk Assessment
Conditions (16): Help
Adrenoleukodystrophy; 3-Methylglutaconic aciduria type 3; Adult polyglucosan body disease more...
Genes (14): Help
ABCD1 (Xq28); ARG1 (6q23.2); ARSA (22q13.33); BTD (3p25.1); CYP27A1 (2q35) more...
Methods (2): Help
Molecular Genetics - Deletion/duplication analysis: Comparative Genomic Hybridization; ...
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
GeneDx
View lab's website
Test short name: Help
HSP Related Inborn Errors of Metabolism Panel
Specimen Source: Help
  • Oral Rinse
  • Peripheral (whole) blood
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Nurse Practitioner
  • Registered Nurse
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
Order URL
Informed consent required: Help
Based on applicable state law
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Test Order Code, Lab contact for this test, Test strategy, Test development
Conditions Help
Total conditions: 16
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 14
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 2
Method Category Help
Test method Help
Instrument *
Deletion/duplication analysis
Comparative Genomic Hybridization
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Risk Assessment
Variant 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
Not provided.
Recommended fields not provided:
Clinical validity, Clinical utility, Target population, What is the protocol for interpreting a variation as a VUS?, Will the lab re-contact the ordering physician if variant interpretation changes?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
98.00%
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
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
Not provided
Additional Information

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