STAT Epilepsy Panel
Clinical Genetic Test
Help
offered by
GTR Test Accession: Help GTR000613310.1
INHERITED DISEASE
Registered in GTR: 2024-07-18
Last annual review date for the lab: 2023-07-21 Past due LinkOut
At a Glance
Diagnosis
Hereditary disease
ABCD1 (Xq28); ADSL (22q13.1); ALDH7A1 (5q23.2); ALG13 (Xq23); AMT (3p21.31) more...
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Not provided
Not provided
Not provided
Ordering Information
Offered by: Help
Test Order Code: Help
BG-1300-P76-1
Informed consent required: Help
Decline to answer
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: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 76
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
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
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
For point mutations, our assay sensitivity and specificity are about 95% and 97% respectively; for small indel mutations, our assay sensitivity and specificity are about 85% and 71% respectively. In addition, our assay can mosaicism at the level of > 10%.
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
Practice guidelines:
Consumer resources:

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