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PMC Hereditary Paraganglioma-Pheochromocytoma Panel

Up to 11 genes Turn around Time: 10 business days
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Test Description

PMC Hereditary Paraganglioma-Pheochromocytoma Panel examines genes linked to predisposition to paraganglioma and pheochromocytoma. 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. This test targets hereditary germline mutations and is not suitable for detecting somatic mutations in tumor tissue.

Patient (Consult a Provider) Provider
  • Associated Conditions
    • Erythrocytosis, familial, Von Hippel-Lindau disease
    • FH tumor predisposition syndrome
    • Hereditary leiomyomatosis and renal cell cancer, Fumarase deficiency
    • Hereditary paraganglioma-pheochromocytoma syndrome
    • Hirschsprung disease, Central hypoventilation syndrome, congenital, Pheochromocytoma, Medullary thyroid carcinoma, Multiple endocrine neoplasia
    • Leigh syndrome/Mitochondrial respiratory chain complex II deficiency, Gastrointestinal stromal tumor, Dilated cardiomyopathy (DCM), Cardiomyopathy, dilated, 1GG
    • Multiple endocrine neoplasia type 2 (MEN2)
  • Methodology

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

  • Assay Information
    • KIF1B: Sequencing analysis for exons 20| 30 includes only cds +/- 10 bp.
    • MEN1: Sequencing analysis for exons 2 includes only cds +/- 10 bp.
    • EGLN1: Sequencing analysis for exons 5 includes only cds +/- 10 bp.
    • EPAS1: Deletion/duplication analysis is not offered for exon 3. Sequencing analysis for exons 3 includes only cds +/- 0 bp.
    • MAX: Sequencing analysis for exons 2 includes only cds +/- 10 bp.
    • SDHC: Sequencing analysis for exons 2| 6 includes only cds +/- 10 bp.
    • FH: Sequencing analysis for exons 9 includes only cds +/- 10 bp.
  • 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:

    11 genes selected