Comprehensive Epilepsy Panel, Sequencing and Deletion/Duplication
GTR Test Accession: Help GTR000611946.1
INHERITED DISEASENERVOUS SYSTEMMETABOLIC DISEASE ... View more
Last updated in GTR: 2023-08-22
Last annual review date for the lab: 2023-07-17 LinkOut
At a Glance
Diagnosis; Mutation Confirmation; Predictive
Developmental and epileptic encephalopathy, 29; ALG1-congenital disorder of glycosylation; ALG3-congenital disorder of glycosylation; ...
AARS1 (16q22.1), ABAT (16p13.2), ADGRG1 (16q21), ADSL (22q13.1), AFG2A (4q28.1), ...
Molecular Genetics - Deletion/duplication analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS); ...
Not provided
Not provided
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Ordering Information
Offered by: Help
ARUP Laboratories, Molecular Genetics and Genomics
View lab's website
View lab's test page
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
Test Order Code: Help
3001591
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: 234
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 240
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
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Predictive
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
The analytical sensitivity is approximately 99 percent for single nucleotide variants (SNVs) and greater than 93 percent for insertions/duplications/deletions (indels) from 1-10 base pairs in size. Indels greater than 10 base pairs may be detected, but the analytical sensitivity may be reduced. Deletions of 2 exons or larger are detected … View more
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

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