Genomic Unity Epilepsy Analysis (includes STR analysis of 6 loci)
Clinical Genetic Test
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offered by
GTR Test Accession: Help GTR000569188.16
NERVOUS SYSTEM
Last updated in GTR: 2023-12-05
Last annual review date for the lab: 2024-01-30 LinkOut
At a Glance
Diagnosis
Epilepsy
AARS1 (16q22.1), ABAT (16p13.2), ABCD1 (Xq28), ACY1 (3p21.2), ADAR (1q21.3), ...
Molecular Genetics - Deletion/duplication analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS); ...
Patients with clinical features of epilepsy.
Not provided
Not provided
Ordering Information
Offered by: Help
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
CPT codes: Help
**AMA CPT codes notice
Lab contact: Help
Christine Stanley, PhD, FACMG, Medical Director
christine.stanley@variantyx.com
+1 617-209-2090
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
Genomic Unity Epilepsy Analysis orders are initiated at https://www.variantyx.com/resources/provider-resources/order-forms/. Following submission, a clinical coordinator will get in touch to send a blood or saliva sample collection kit if required and facilitate collection of the test requisition and informed consent forms.
Order URL
Informed consent required: Help
Yes
Test strategy: Help
When results are not positive, there is an option to reflex up to Genomic Unity Exome Analysis or Genomic Unity Exome Plus Analysis, and Genomic Unity Whole Genome Analysis.
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: 378
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 3
Method Category Help
Test method Help
Instrument *
Deletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Mutation scanning of select exons
Tandem repeat expansion analysis
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Target population: Help
Patients with clinical features of epilepsy.
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
Variants are categorized as pathogenic, likely pathogenic or a variant of uncertain significance (VUS) utilizing the American College of Medical Genetics and Genomics (ACMG)/Association for Molecular Pathology (AMP) guidelines as published by Richards et al 2015.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Not provided.
Recommended fields not provided:
Technical Information
Test Procedure: Help
The patient's DNA is sequenced using whole genome sequencing conducted on an Illumina platform at 30X mean mappable coverage. The relevant region(s) of DNA are subsequently isolated in-silico for analysis.
Test Confirmation: Help
Tandem repeat expansions are sent out to a third party CLIA/CAP lab for orthogonal confirmation.
Test Comments: Help
The Genomic Unity® Epilepsy Analysis is designed to identify genetic variants that correlate with epilepsy disorders. This analysis includes sequence analysis (single nucleotide variants, deletions/insertions and characterized intronic variants), copy number variants, duplications/deletions, mobile element insertions, and inversions in a panel of 380 genes (listed below), and short tandem repeat … View more
Availability: Help
Tests performed
Interpretation performed in-house
Report generated in-house
Specimen preparation performed both in-house and at an outside lab
Wet lab work performed both in-house and at an outside lab

Test performance comments
Specimen preparation and clinical grade sequencing is performed by outside CLIA labs. All data processing, analysis, interpretation, diagnosis and report generation is performed in-house.
Analytical Validity: Help
The Genomic Unity® Epilepsy Analysis is designed to identify genetic variants that correlate with epilepsy disorders. This analysis includes sequence analysis (single nucleotide variants, deletions/insertions, and characterized intronic variants), copy number variants, duplications/deletions, mobile element insertions, and inversions in a panel of 378 genes, and short tandem repeat expansions in … View more
Assay limitations: Help
The false negative rate for repeat expansions has not been determined.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Intra-Laboratory
VUS:
Software used to interpret novel variations Help
Proprietary Variantyx Genomic Intelligence platform

Laboratory's policy on reporting novel variations Help
Test results will only be released to the ordering healthcare provider and additional healthcare provider(s) indicated on the test requisition form.
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.