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PMC Epidermolysis Bullosa and Palmoplantar Keratoderma Panel

Up to 46 genes Turn around Time: 10 business days
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Test Description

PMC Epidermolysis Bullosa and Palmoplantar Keratoderma Panel examines genes linked to epidermolysis bullosa| palmoplantar keratoderma| and similar conditions characterized by skin fragility or thickening on the hands and feet.

Patient (Consult a Provider) Provider
  • Associated Conditions
    • Epidermolysis bullosa, including dystrophic, junctional and simplex subtypes
    • Palmoplantar keratoderma (PPK), including epidermolytic PPK; diffuse PPK, Bothnian type; punctate PPK; keratosis palmoplantaris striata; Mal de Meleda; and PPK, Nagashima type
    • Peeling skin syndrome
    • Carvajal syndrome
    • Clouston syndrome
    • CTSC-related conditions, including Papillon-Lefevre syndrome and Haim-Munk syndrome
    • Ectodermal dysplasia/skin fragility syndrome
  • Methodology

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

  • Assay Information
    • KRT6B: Deletion/duplication analysis is not offered for exons 1-2 and sequencing analysis is not offered for exon 1.
    • KRT6C: Deletion/duplication and sequencing analysis is not offered for exons 1-4.
    • ENPP1: Sequencing analysis for exons 2 includes only cds +/- 5 bp.
    • KRT6A: Deletion/duplication and sequencing analysis is not offered for exon 1.
  • 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:

    46 genes selected