PGL/PCC (Paraganglioma/Pheochromocytoma) Panel

Forms and Documents

Test Details

FH, MAX, MEN1, NF1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL
  • A personal and/or family history of one or more paragangliomas or pheochromocytomas
  • A pattern of cancer in which individuals with similar or related cancers (see table below) are on one side of the family and spanning multiple generations
  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering

B395
3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swab | Fibroblasts (separate charge for cell culture may apply) | Oral Rinse

Billing

81403x1, 81404x3, 81405x2
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. American Thyroid et al. Medullary thyroid cancer: management guidelines of the American Thyroid Association. Thyroid. 2009 Jun;19(6):565-612.
  2. Bryant J et al. Pheochromocytoma: the expanding genetic differential diagnosis. J Natl Cancer Inst. 2003 Aug 20;95(16):1196-204. (PMID: 12928344)
  3. Coughlin EM et al. Molecular analysis and prenatal diagnosis of human fumarase deficiency. Mol Genet Metab. 1998 Apr;63(4):254-62.9635293 (PMID: 9635293)
  4. Friedman JM. Neurofibromatosis 1. 1998 Oct 2 [Updated 2014 Sep 4]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015. Available from: http://www.ncbi.nlm.nih.gov/books/
  5. Gellera C et al. Fumarase deficiency is an autosomal recessive encephalopathy affecting both the mitochondrial and the cytosolic enzymes. Neurology. 1990 Mar;40(3 Pt 1):495-9. 2314594 (PMID: 2314594)
  6. Kirmani S and Young WF. Hereditary Paraganglioma-Pheochromocytoma Syndromes. 2008 May 21 [Updated 2014 Nov 6]. In: Pagon RA, Bird TD, Dolan CR, et al., editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. Available from
  7. Lenders JW et al. Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline. The Journal Of Clinical Endocrinology And Metabolism. 2014 Jun;99(6):1915-42. (PMID: 24893135)
  8. Menko FH et al. Hereditary leiomyomatosis and renal cell cancer (HLRCC): renal cancer risk, surveillance and treatment. Fam Cancer. 2014 Dec;13(4):637-44. (PMID: 25012257)
  9. Mroch AR et al. Detection of a novel FH whole gene deletion in the propositus leading to subsequent prenatal diagnosis in a sibship with fumarase deficiency. Am J Med Genet A. 2012 Jan;158A(1):155-8. (PMID: 22069215)
  10. NCCN Guidelines. Thyroid Carcinoma. Version 2.2015 (URL: http://www.nccn.org/professionals/physician_gls/pdf/thyroid.pdf) November 2015 accessed.
  11. Thakker et al. Clinical Practice Guidelines for Multiple Endocrine Neoplasia Type 1 (MEN1). The Journal of Clinical Endocrinology and Metabolism. 2012;97(9):2990-3011. (PMID: 22723327)