Infantile Epilepsy
GTR Test Accession: Help GTR000552301.1
CAP
NERVOUS SYSTEMSYNDROMIC DISEASE
Last updated in GTR: 2016-11-11
Last annual review date for the lab: 2023-06-23 LinkOut
At a Glance
Diagnosis
West syndrome; Autosomal recessive infantile epilepsy
ADSL (22q13.1), ALDH5A1 (6p22.3), ALDH7A1 (5q23.2), AMT (3p21.31), ARX (Xp21.3), ...
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Not provided
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Ordering Information
Offered by: Help
Knight Diagnostic Laboratories - Molecular Diagnostic Center
View lab's website
View lab's test page
Specimen Source: Help
Who can order: Help
  • Health Care Provider
Test Order Code: Help
Lab contact: Help
Sarah McCabe, Laboratory Contact
mccabe@ohsu.edu
503-494-5400
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
Customers will need to complete a separate Requisition Form for each patient and include it in the specimen kit provided. Before shipping, please verify that patient information and patient ID number on the form matches that on the specimen.
Order URL
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: 2
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 60
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
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
Follow ACMG Standards and Guidelines for interpreting sequence variants.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Not provided.
Recommended fields not provided:
Technical Information
Test Confirmation: Help
Pathogenic and likely pathogenic variants are confirmed via Sanger sequencing
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Analytical validity of this analysis is > 98%
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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