GTR Test Accession:
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GTR000514813.1
Registered in GTR:
2014-07-17
View version history
GTR000514813.1,
registered in GTR:
2014-07-17
Last annual review date for the lab: 2024-03-13
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At a Glance
Test purpose:
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Diagnosis
Conditions (17):
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Idiopathic generalized epilepsy;
Developmental and epileptic encephalopathy, 4;
Developmental and epileptic encephalopathy, 9
more...
Genes (2):
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EFHC1 (6p12.2);
GABRD (1p36.33)
Methods (1):
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Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
Not provided
Clinical validity:
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Not provided
Clinical utility:
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Not provided
Ordering Information
Offered by:
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Specimen Source:
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- Peripheral (whole) blood
- View specimen requirements
Who can order: Help
- Health Care Provider
Test Order Code:
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Lab contact:
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Contact Policy:
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Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
Test development:
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Test developed by laboratory but exempt from FDA oversight (eg. NYS CLEP approved, offered within a hospital or clinic)
Informed consent required:
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Based on applicable state law
Pre-test genetic counseling required:
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Not provided
Post-test genetic counseling required:
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No
Recommended fields not provided:
How to Order,
Pre-test genetic counseling required,
Test strategy
Conditions
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Total conditions: 17
| Condition/Phenotype | Identifier |
|---|
Test Targets
Genes
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Total genes: 2
| Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
|---|
Methodology
Total methods: 1
Method Category
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Test method
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Instrument *
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis
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?,
Is research allowed on the sample after clinical testing is complete?,
Sample negative report,
Sample positive report
Technical Information
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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Our diagnostic criteria requires: (i) at least 98% of the sequencing reads have a quality score (Q) above 30 (99,9% accurate), (ii) a median per base sequence quality score (Q) above 30 (99,9% accurate), (iii) at least 98% of the region of interest have over 20-fold per base coverage.
Proficiency testing (PT):
Is proficiency testing performed for this test?
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Yes
Method used for proficiency testing: Help
Formal PT program
PT Provider: Help
European Molecular Genetics Quality Network, EMQN
Description of PT method: Help
Molecular Genetics Sequencing
Yes
Method used for proficiency testing: Help
Formal PT program
PT Provider: Help
European Molecular Genetics Quality Network, EMQN
Description of PT method: Help
Molecular Genetics Sequencing
VUS:
Laboratory's policy on reporting novel variations
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Decline to answer
Decline to answer
Recommended fields not provided:
Test Confirmation,
Assay limitations,
Description of internal test validation method,
Citations for Analytical validity,
Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review:
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Not provided
Additional Information
Reviews:
Clinical resources:
Molecular resources:
Consumer resources:
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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.