Hereditary Spastic Paraplegia Related Inborn Errors of Metabolism Panel
Clinical Genetic Test
Help
offered by
GTR Test Accession: Help GTR000529136.1
INHERITED DISEASEMETABOLIC DISEASENERVOUS SYSTEM ... View more
Last updated in GTR: 2016-01-22
Last annual review date for the lab: 2024-03-25 LinkOut
At a Glance
Diagnosis; Risk Assessment
Adrenoleukodystrophy; 3-Methylglutaconic aciduria type 3; Adult polyglucosan body disease more...
ABCD1 (Xq28); ARG1 (6q23.2); ARSA (22q13.33); BTD (3p25.1); CYP27A1 (2q35) more...
Molecular Genetics - Deletion/duplication analysis: Comparative Genomic Hybridization; ...
Not provided
Not provided
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Ordering Information
Offered by: Help
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
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:
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:
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:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.