Megalencephaly Panel
GTR Test Accession: Help GTR000569953.3
Last updated in GTR: 2024-01-10
Last annual review date for the lab: 2024-01-10 LinkOut
At a Glance
Megalencephaly, autosomal dominant
ABCC9 (12p12.1), AKT1 (14q32.33), AKT2 (19q13.2), AKT3 (1q43-44), BRWD3 (Xq21.1), ...
Molecular Genetics - Deletion/duplication analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS); ...
Not provided
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Ordering Information
Offered by: Help
University of Washington Department of Laboratory Medicine
View lab's website
View lab's test page
Test short name: Help
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
Test Order Code: Help
Lab contact: Help
Brian Shirts, PhD, MD, ABPath, Lab Director
Angela Jacobson, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
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.
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
    OrderCode: KMU
Informed consent required: Help
Pre-test genetic counseling required: Help
Post-test genetic counseling required: Help
Recommended fields not provided:
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 31
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
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
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
Modified ACMG/AMP 2015 guidelines. See Pritchard et al 2014 (PMID: 24189654), Shirts et al 2016 (PMID: 26845104), Tavtigian et al 2018 (PMID: 29300386).

Are family members with defined clinical status recruited to assess significance of VUS without charge? Help

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Yes. Systematic reanalysis of variants, followed by generation of amended reports that are sent to the ordering physician
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
All NGS Panels provided by University of Washington Department of Laboratory Medicine provide a comprehensive assay that detects all classes of mutations (including single nucleotide variants (SNVs), small insertions and deletions (indels), and large copy number variants) using targeted capture and massively parallel next-generation sequencing on an Illumina instrument. Panels … View more
View citations (3)
  • Nord AS, Lee M, King MC, Walsh T. Accurate and exact CNV identification from targeted high-throughput sequence data. BMC Genomics. 2011;12:184. doi:10.1186/1471-2164-12-184. Epub 2011 Apr 12. PMID: 21486468.
  • Pritchard CC, Smith C, Salipante SJ, Lee MK, Thornton AM, Nord AS, Gulden C, Kupfer SS, Swisher EM, Bennett RL, Novetsky AP, Jarvik GP, Olopade OI, Goodfellow PJ, King MC, Tait JF, Walsh T. ColoSeq provides comprehensive lynch and polyposis syndrome mutational analysis using massively parallel sequencing. J Mol Diagn. 2012;14(4):357-66. doi:10.1016/j.jmoldx.2012.03.002. Epub 2012 May 30. PMID: 22658618.
  • Kuo AJ, Paulson VA, Hempelmann JA, Beightol M, Todhunter S, Colbert BG, Salipante SJ, Konnick EQ, Pritchard CC, Lockwood CM. Validation and implementation of a modular targeted capture assay for the detection of clinically significant molecular oncology alterations. Pract Lab Med. 2020;19:e00153. doi:10.1016/j.plabm.2020.e00153. Epub 2020 Feb 03. PMID: 32123717.
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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