Comprehensive Brain Malformation Panel
GTR Test Accession: Help GTR000552175.1
Last updated in GTR: 2016-10-20
Last annual review date for the lab: 2023-06-23 LinkOut
At a Glance
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism; Autosomal recessive primary microcephaly; Congenital cerebellar hypoplasia; ...
ACTB (7p22.1), ACTG1 (17q25.3), ADGRG1 (16q21), AHI1 (6q23.3), ARFGEF2 (20q13.13), ...
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
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Ordering Information
Offered by: Help
Knight Diagnostic Laboratories - Molecular Diagnostic Center
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View lab's test page
Specimen Source: Help
Who can order: Help
  • Health Care Provider
Lab contact: Help
Sarah McCabe, Laboratory Contact
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
Customers will need to complete a separate Requisition Form for each patient and include it in the specimen kit provided. Before shipping, please verify that patient information and patient ID number on the form matches that on the specimen.
Order URL
Informed consent required: Help
Decline to answer
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Conditions Help
Total conditions: 36
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 106
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Total methods: 1
Method Category Help
Test method Help
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Clinical Information
Test purpose: Help
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
Follow ACMG Standards and Guidelines for interpreting sequence variants.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Not provided.
Recommended fields not provided:
Technical Information
Test Confirmation: Help
Pathogenic and likely pathogenic variants are confirmed via Sanger-sequencing
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Analytical validity of this analysis is > 98%
Proficiency testing (PT):
Is proficiency testing performed for this test? Help

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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