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Cortical Malformations and Epilepsy Panel with interpretation
Clinical Genetic Test
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offered by
Clinical Genomics Laboratory
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GTR Test Accession: Help GTR000613140.3
INHERITED DISEASENERVOUS SYSTEMDYSMORPHOLOGY ... View more
Last updated in GTR: 2024-04-25
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Last annual review date for the lab: 2022-04-08 Past due LinkOut
At a Glance
Test purpose: Help
Diagnosis; Therapeutic management
Conditions (35): Help
Baraitser-Winter syndrome; Cardioacrofacial dysplasia 1; Cardioacrofacial dysplasia 2; ...
Genes (39): Help
ACTB (7p22.1), AKT1 (14q32.33), AKT3 (1q43-44), ARFGEF2 (20q13.13), BRAF (7q34), ...
Methods (1): Help
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
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:
Test Order Code, Test development
Conditions Help
Total conditions: 35
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 39
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:
Clinical validity, Clinical utility, Target population, What is the protocol for interpreting a variation as a VUS?, Are family members with defined clinical status recruited to assess significance of VUS without charge?, Will the lab re-contact the ordering physician if variant interpretation changes?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
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
Yes

Method used for proficiency testing: Help
Alternative Assessment
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, PT Provider, Description of PT method, Major CAP category, CAP category, CAP test list
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.