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PMC Red Blood Cell Membrane Disorders and Enzymopathies Panel

Up to 28 genes Turn around Time: 10 business days
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Test Description

PMC Red Blood Cell Membrane Disorders and Enzymopathies Panel analyzes genes involved in conditions affecting red blood cell enzymes and membranes.

Patient (Consult a Provider) Provider
  • Associated Conditions
    • Red blood cell enzymopathies
    • Red blood cell membrane disorders
    • Spherocytosis
    • Ellipsocytosis 1
    • Overhydrated hereditary stomatocytosis, Anemia, hemolytic, Rh-null, regulator type, Anemia, hemolytic,Rh-Mod type, RHAG blood group
    • Ovalcytosis, Renal tubular acidosis, distal, with hemolytic anemia, Cryohydrocytosis, Acanthocytosis, Band 3 Memphis
    • Pyropoikilocytosis
  • Methodology

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

  • Assay Information
    • GYPC: Analysis includes deletion/duplication for exons 3-4 and NM_002101.4:c.134del variant only.
    • GSR: Sequencing analysis for exons 2 includes only cds +/- 0 bp.
    • PIEZO1: Sequencing analysis is not offered for exon 22.
  • 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:

    28 genes selected