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PMC Cystic Kidney Disease Panel

Up to 65 genes Turn around Time: 10 business days
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Test Description

PMC Cystic Kidney Disease Panel is a comprehensive genetic test that can help diagnose cystic kidney diseases. This panel analyzes genes associated with various types of cystic kidney disease| including autosomal dominant polycystic kidney disease| autosomal recessive polycystic kidney disease| and nephronophthisis.

Patient (Consult a Provider) Provider
  • Associated Conditions
    • Alagille syndrome (ALGS)
    • Autosomal dominant polycystic kidney disease (ADPKD)
    • Autosomal recessive polycystic kidney disease (ARPKD).
    • Bardet-Biedl syndrome (BBS)
    • COL4A1-related conditions
    • DICER1-related pleuropulmonary blastoma familial tumor predisposition syndrome
    • Joubert syndrome and related disorders (JSRD)
  • Methodology

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

  • Assay Information
    • NOTCH2: Deletion/duplication and sequencing analysis is not offered for exons 1-4.
    • DICER1: Sequencing analysis for exons 22 includes only cds +/- 10 bp.
    • TSC1: Sequencing analysis for exons 21 includes only cds +/- 10 bp.
    • CEP290: Analysis includes the intronic variant NM_025114.3:c.2991+1655A >G.
    • CRB2: Deletion/duplication analysis is not offered for exons 5-6.
    • SEC63: Sequencing analysis for exons 4| 13 includes only cds +/- 0 bp.
    • PKHD1: Deletion/duplication analysis is not offered for exon 13.
  • 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:

    65 genes selected