Comprehensive Brain Malformations Panel
Clinical Genetic Test
offered by
GTR Test Accession: Help GTR000575623.1
Last updated in GTR: 2020-03-10
Last annual review date for the lab: 2024-03-25 LinkOut
At a Glance
Qualitative or quantitative defects of alpha-dystroglycan; Bilateral frontoparietal polymicrogyria; COACH syndrome 1; ...
ACTB (7p22.1), ACTG1 (17q25.3), ADGRG1 (16q21), AHI1 (6q23.3), AKT3 (1q43-44), ...
Molecular Genetics - Deletion/duplication analysis: Microarray; ...
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Ordering Information
Test Order Code: Help
Informed consent required: Help
Decline to answer
Pre-test genetic counseling required: Help
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Post-test genetic counseling required: Help
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Recommended fields not provided:
Conditions Help
Total conditions: 19
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 103
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Total methods: 2
Method Category Help
Test method Help
Instrument *
Deletion/duplication analysis
Sequence analysis of select exons
Bi-directional Sanger Sequence Analysis
* Instrument: Not provided
Clinical Information
Test purpose: Help
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Capillary sequencing is expected to be >99% sensitive in detecting sequencing variants.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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