ALDH7A1 - Epilepsy, pyridoxine-dependent
GTR Test Accession: Help GTR000567531.1
Last updated in GTR: 2019-04-26
Last annual review date for the lab: 2024-01-30 LinkOut
At a Glance
Pyridoxine-dependent epilepsy
Genes (1): Help
ALDH7A1 (5q23.2)
Molecular Genetics - Sequence analysis of the entire coding region: Bi-directional Sanger Sequence Analysis; Next-Generation (NGS)/Massively parallel sequencing (MPS)
Patients with pyridoxine-dependent Epilepsy
Not provided
Not provided
Ordering Information
Offered by: Help
Translational Metabolic Laboratory
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Test Order Code: Help
How to Order: Help
See website
Order URL
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Decline to answer
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
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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
Total methods: 2
Method Category Help
Test method Help
Instrument *
Sequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Target population: Help
Patients with pyridoxine-dependent Epilepsy
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
With bidirectional Sanger sequencing, we have over 99.99% accuracy. With NGS, accuracy is over 99.8%. Mutation detection reproducibility is consistently reliable at 100%.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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