Epilepsy exome

GTR Test IDHelpEach Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. The format is GTR00000001.1, with a leading prefix 'GTR' followed by 8 digits, a period, then 1 or more digits representing the version. When a laboratory updates a registered test, a new version number is assigned.: GTR000592365.1
Last updated: 2023-07-18
Test version history
- 592365.1, last updated: 2023-07-18

Clinical testHelpIn the U.S., clinical tests must be performed under CLIA certification. When a lab uses the same methods for a test in both clinical and research settings, the test appears as two separate GTR records. for Early infantile epileptic encephalopathy with suppression bursts
Offered by Genetic Services Laboratory

Performance Characteristics

Entire test performed in-house

Analytical Sensitivity 99-100% Accuracy 100% Precision 100%

Citations

Not provided

This assay covers the coding and immediate flanking regions of the included genes. Variants in the promoter region and in other non-coding regions will not be detected. Variants that occur within regions of high homology and/or repetitiveness may not be detected due to issues with alignment. The technical sensitivity of this test is estimated to be >99% for single nucleotide changes and insertions and deletions of less than 20bp. Our CNV detection algorithm was developed and its performance determined for the sole purpose of identifying deletions and duplications within the coding region of the gene(s) tested. The sensitivity for detection of CNVs including 3 exons or larger is ~95% but may vary from gene-to-gene based on exon size, characteristics of the region and depth of sequencing coverage. The sensitivity for detection of CNVs smaller than 3 exons is estimated to be lower (~75-80%). CNVs occurring in regions of high homology (pseudogenes; segmental duplications) will not be detected. This methodology may not detect low level mosaicism, balanced translocations, inversions, trinucleotide repeat expansion that may be responsible for the clinical phenotype.

Is proficiency testing performed for this test? HelpWhether the test undergoes periodic internal or external evaluation of the accuracy of test results. Lab-provided.: Yes
Method used for proficiency testingHelpMethod used for external or internal evaluation of the accuracy of test results. Lab-provided.: Formal PT program
PT ProviderHelpProvider used for proficiency testing. Lab-provided.: American College of Medical Genetics / College of American Pathologists, ACMG/CAP

FDA Category Designation: FDA exercises enforcement discretion

Reviews

Clinical resources

Consumer resources

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the 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.

Epilepsy exome

Performance Characteristics

Availability

Analytical Validity

Citations

Assay Limitation(s)

Proficiency Testing (PT)

FDA Regulatory Clearances of the Test

Reviews

Clinical resources

Consumer resources