Epilepsy Advanced Sequencing and CNV Evaluation - Developmental Brain Malformations
Clinical Genetic Test
Help
offered by
GTR Test Accession: Help GTR000559458.2
INHERITED DISEASENERVOUS SYSTEMDYSMORPHOLOGY ... View more
Last updated in GTR: 2018-09-13
Last annual review date for the lab: 2023-12-01 LinkOut
At a Glance
Diagnosis; Pre-symptomatic; Predictive
Periventricular heterotopia with microcephaly, autosomal recessive; Achondroplasia; Aniridia 1; ...
ADGRG1 (16q21), ARFGEF2 (20q13.13), ARX (Xp21.3), ASPM (1q31.3), CENPJ (13q12.12-12.13), ...
Molecular Genetics - Deletion/duplication analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS); ...
Not provided
Not provided
Not provided
Ordering Information
Offered by: Help
Athena Diagnostics Inc
View lab's website
Test Order Code: Help
6018
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: 43
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 40
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

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.