Epilepsy Advanced Sequencing and CNV Evaluation - Intellectual Disability
Clinical Genetic Test
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offered by
GTR Test Accession: Help GTR000559478.1
INHERITED DISEASENERVOUS SYSTEMSYNDROMIC DISEASE ... View more
Last updated in GTR: 2018-01-30
Last annual review date for the lab: 2023-12-01 LinkOut
At a Glance
Diagnosis; Pre-symptomatic; Predictive
Developmental and epileptic encephalopathy, 8; ALG9 congenital disorder of glycosylation; Aarskog syndrome; ...
ABAT (16p13.2), ADSL (22q13.1), AFG2A (4q28.1), ALG13 (Xq23), ALG9 (11q23.1), ...
Molecular Genetics - Deletion/duplication analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS); ...
Not provided
Not provided
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Ordering Information
Offered by: Help
Athena Diagnostics Inc
View lab's website
Test Order Code: Help
6019
Informed consent required: Help
Based on applicable state law
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
No
Recommended fields not provided:
Conditions Help
Total conditions: 57
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 56
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 2
Method Category Help
Test method Help
Instrument *
Deletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Pre-symptomatic; Predictive
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Analytical sensitivity, specificity and accuracy are ≥ 99%
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Alternative Assessment
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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