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PMC Inherited Retinal Disorders Panel

Up to 330 genes Turn around Time: 10 business days
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Test Description

The Inherited Retinal Disorders Panel examines genes linked to conditions like retinitis pigmentosa RP, cone-rod dystrophy, and Leber congenital amaurosis. Due to the genetic diversity related to these disorders, relying solely on symptoms can be challenging for pinpointing a definitive cause. Comprehensive panel testing allows for a thorough assessment of multiple potential genes based on a single clinical indication. Some genes in this test may also be connected to other disorders not listed. Testing these genes can help confirm a diagnosis, estimate recurrence risk, and offer guidance for genetic counseling. The panel includes the RPGR gene, specifically exon 15 ORF15, which is mostly found in the retina and is tied to X-linked RP.

Patient (Consult a Provider) Provider
  • Associated Conditions
    • COACH syndrome
    • Joubert syndrome and related disorders (JSRD)
    • Joubert syndrome with retinal disease (JS-Ret)
    • Joubert syndrome with renal disease (JS-Ren)
    • Joubert syndrome with oculorenal disease (JS-OR)
    • Joubert syndrome with hepatic disease (JS-H)
    • Joubert syndrome with orofaciodigital features (JS-OFD)
  • Methodology

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

  • 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:

    330 genes selected