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 Swabs | Fibroblasts (separate charge for cell culture may apply)

Billing

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

*The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

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)