Order Now

PMC Congenital Myasthenic Syndromes Panel

Up to 21 genes Turn around Time: 10 business days
Order a Kit:

Testing Kit Request Form

New Provider:

Please fill out the form:
Provider Registration Form

Contact:

info@pmcdx.com

Test Description

PMC Congenital Myasthenic Syndromes (CMS) Panel is a genetic test that analyzes a selected panel of genes associated with congenital myasthenic syndromes.

Patient (Consult a Provider) Provider
  • Associated Conditions
    • Congenital disorder of glycosylation
    • Congenital myasthenic syndrome
    • Epidermolysis bullosa
    • Escobar syndrome
    • Fetal akinesia deformation sequence
    • Hyperkalemic periodic paralysis
    • Immunodeficiency
  • Methodology

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

  • Assay Information
    • CHRNE: Analysis includes the intronic variants NM_000080.3:c.-96C>T| NM_000080.3:c.-95G>A| and NM_000080.3:c.-94G>A.
    • DOK7: Analysis includes the intronic variant NM_001301071.1:c.54+14_+28delGGGGGGGGGGGGCGC.
    • GFPT1: Sequencing analysis for exons 20 includes only cds +/- 10 bp.
    • RAPSN: Analysis includes the promoter variants NM_005055.3:c.-210A>G and NM_005055.3:c.-199C>G.
  • 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:

    21 genes selected