Order Now

PMC Ectodermal Dysplasia and Related Disorders Panel

Up to 135 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 Ectodermal Dysplasia and Related Disorders Panel examines genes linked to conditions that impact ectodermal tissues such as skin| hair| teeth| nails| and sweat glands.
Due to overlapping clinical features of hereditary susceptibility conditions| utilizing a comprehensive panel test enables a thorough evaluation of potential genes for individuals with similar clinical symptoms. Some genes included in this panel may also be associated with conditions unrelated to the clinical indication for testing.

Patient (Consult a Provider) Provider
  • Associated Conditions
    • Björnstad syndrome
    • Carvajal syndrome
    • CDH3-related conditions, including congenital hypotrichosis with juvenile macular dystrophy and ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome
    • Char syndrome
    • Cleft lip/palate-ectodermal dysplasia syndrome
    • Clouston syndrome
    • Cockayne syndrome/cerebrooculofacioskeletal 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.
    • 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:

    135 genes selected