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SDHAF2 (G78R) Mutation Analysis

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
SDHAF2
Disorders:
Clinical Utility:
  • Confirmation of a clinical diagnosis
  • Differentiation of PGL/PCC syndrome from other hereditary cancer predisposition syndromes, such as MEN2, VHL and NF1
  • Identification of family members at-risk for paraganglioma/pheochromocytoma
  • Recurrence risk assessment
  • Prenatal diagnosis in families with a known mutation
Lab Method:
Capillary Sequencing

ORDERING

Test Code:
454
Turnaround Time:
2-3 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
81479x1
New York Approved:
No
ABN Required:
Yes
Billing Information:
View Billing Policy
ICD Codes:
  • 255.6: Medulloadrenal hyperfunction, Catecholamine secretion by pheochromocytoma
  • 194: Adrenal gland, Adrenal cortex, Adrenal medulla, Suprarenal gland
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Baysal et al. (2002) J Med Genet 39(3):178-83
  2. Gimenez-Roqueplo AP. (2006) Ann N Y Acad Sci 1073:112-21
  3. Pasini et al. (2008) Eur J Hum Genet 16:79-88
  4. Ni et al. (2008) Am J Hum Genet 83:261-8
  5. Taschner et al., (2001) Genes Chromosomes Cancer 31:274–81
  6. Baysal et al. (2004) J Med Genet 41(9):703-9
  7. Cascon et al. (2006) Genes Chromosomes Cancer 45(3):213-9
  8. Badenhop et al. (2004) J Med Genet 41:e99
  9. McWhinney et al. (2004) J Clin Endocrinol Metab 89(11):5694-9
  10. Ricketts et al. (2008) J Natl Cancer Inst 100:1260-2
  11. Neumann et al. (2009) Cancer Res 69:3650-6
  12. Mannelli et al. (2009) J Clin Endocrinol Metab 94(5):1541-7
  13. Schiavi et al. (2005) JAMA 294:2057-63
  14. Amar et al. (2005) J Clin Oncol 23:8812-8
  15. Jimenez et al. (2006) J Clin Endocrinol Metab 91:2851-8
  16. Hao et al. (2009) Science 235:1139-42
  17. Bayley et al. (2010) Lancet Oncol 11:366-72
  18. Burnichon et al. (2010) Hum Mol Genet 19(15):3011-20

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