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PMC RASopathies and Noonan Spectrum Disorders Panel

Up to 39 genes Turn around Time: 10 business days
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Test Description

PMC Rasopathies and Noonan Spectrum Disorders Panel examines genes assoiated with Rasopathies and Noonan Spectrum Disorders.

Patient (Consult a Provider) Provider
  • Associated Conditions
    • RASopathies (including Noonan syndrome, Noonan syndrome with multiple lentigines, cardio-facio-cutaneous syndrome, and Costello syndrome; for these subtypes, see detailed descriptions below)
    • Noonan syndrome with multiple lentigines (NSML)
    • Cardio-facio-cutaneous (CFC) syndrome
    • Costello syndrome
    • Baraitser-Winter syndrome
    • Capillary malformation-arteriovenous malformation (CM-AVM)
    • Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS) and genitopatellar syndrome (GPS)
  • Methodology

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

  • Assay Information
    • NF1: Sequencing analysis for exons 2| 7| 25| 41| 48 includes only cds +/- 10 bp.
    • NSUN2: Deletion/duplication analysis is not offered for exon 9.
  • 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:

    39 genes selected