Pheochromocytoma

Pheochromocytomas (PCC) refer to paragangliomas that are confined to the adrenal medulla.

Tests Available

Forms and Documents

Test Details

SDHA
  • Confirmation of a clinical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing

Ordering

582
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81406x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Parfait (2000) Hum Genet 106: 236.
  2. Horvath (2006) J Neurol Neurosurg Psychiatry 77:74.
  3. Bourgeron (1995) Nat Genet 11:144.
  4. Birch-Machin (2000) Ann Neurol 48:330.
  5. Van Coster (2003) Am J Med Genet 120A:13.
  6. Levitas (2010) Eur J Hum Genet 18: 1160.
  7. Burnichon (2010) Hum Mol Genet 19:3011.

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)

Forms and Documents

CREATE A CUSTOM PANEL

Test Details

  • Identify the genetic basis of cancer for individuals who have features and/or a family history consistent with one of the hereditary cancer syndromes described above.
  • Determine appropriate clinical management recommendations based on a molecular diagnosis.
  • Identify family members at-risk to develop features associated with a specific hereditary cancer syndrome.
  • Deletion/Duplication Analysis
  • Next-Gen Sequencing
  • MLPA

Ordering

B749
21 days
2-5 mL Blood - Lavender Top Tube
Buccal Swab | Fibroblasts (separate charge for cell culture may apply) | Oral Rinse

Billing

Varies by Gene
Yes
Yes
* For price inquiries please email zebras@genedx.com