Cortical Malformations and Epilepsy Panel with interpretation
GTR Test Accession: Help GTR000613140.1
INHERITED DISEASENERVOUS SYSTEMDYSMORPHOLOGY ... View more
Last updated in GTR: 2024-01-22
Last annual review date for the lab: 2022-04-08 Past due LinkOut
At a Glance
Diagnosis; Therapeutic management
Baraitser-Winter syndrome; Cardioacrofacial dysplasia 1; Cardioacrofacial dysplasia 2; ...
ACTB (7p22.1), AKT1 (14q32.33), AKT3 (1q43-44), ARFGEF2 (20q13.13), BRAF (7q34), ...
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Not provided
Not provided
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Ordering Information
Offered by: Help
Clinical Genomics Laboratory
View lab's website
View lab's test page
Specimen Source: Help
Who can order: Help
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
Lab contact: Help
Meagan Corliss, Genetic Counselor
mcorliss@path.wustl.edu
314-747-7337
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
To order a test, complete and submit a requisition form that can be found on our website (gps.wustl.edu)
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Informed consent required: Help
Decline to answer
Test strategy: Help
Please call the lab before sending buccal swabs, these are only accepted in certain instances.
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: 35
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 38
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; Therapeutic management
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
For SNV variants with VAF 2.5% or greater, the sensitivity is 100%, for variants with VAF at 1.25%, 0.62%, 0.31%, and 0.15%, the sensitivity is 98.90%, 82.87%, 64.64%, and 61.33% respectively. The precision for all SNVs at different VAF levels is within a range of 94.35%-98.65%. For indel variants with … 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

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.