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PMC Brain Malformations Panel

Up to 161 genes Turn around Time: 10 business days
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Test Description

PMC Brain malformations Panel analyzes the genes involved in brain malformations.

Patient (Consult a Provider) Provider
  • Associated Conditions
    • Asparagine synthetase deficiency
    • Ataxia-telangiectasia-like disorder
    • Baraitser-Winter syndrome
    • Cerebral cavernous malformations
    • Chudley-McCullough syndrome
    • Coffin-Siris syndrome
    • COL4A1-related disorders
  • Methodology

    Targeted Exome/ Slice Exome (Next Generation Sequencing including Copy Number Variation)

  • Assay Information
    • ARX: Analysis is validated to detect polyalanine expansions but sensitivity may be reduced.
    • C19orf12: Deletion/duplication analysis is not offered for exon 1.
    • CDK13: Sequencing analysis for exons 12 includes only cds +/- 10 bp.
    • COL3A1: Deletion/duplication analysis is not offered for exons 23-24.
  • Limitations

    All sequencing technologies have limitations. A negative result from this analysis does not rule out a possible genetic diagnosis as some variants may not be detected by this test. This test is not designed to detect low level mosaicism, structural rearrangements, indels >40bp, deep intronic variants of unknown clinical significance, or large cytogenetic CNVs. Certain inherent qualities of the human genome, for example repetitive regions/homopolymers, GC rich, pseudogenes, and rare polymorphisms, pose significant technical challenges such as sequence misalignment that may potentially impact the accuracy of the results. False negative results may also occur in the setting of allogeneic bone marrow, stem cell transplantation, active or chronic hematologic conditions, recent blood transfusions, suboptimal DNA quality or PCR trace contamination. Other potential sources of error include sample mix-ups and clerical issues.

  • References
    • 1. Richards S et al. Genetics in medicine. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 2015 May;17(5):405-24 (PMID: 25741868)
    • 2. GnomAD (gnomAD)
    • 3. CSPEC (ClinGen variant classification rules registry) Criteria Specification Registry
    • 4. Normal copy number variation in healthy individuals database of genomic variants: http://dgv.tcag.ca/dgv/app/home
  • Tagged Genes

    Primary panel:

    161 genes selected