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SDHD Gene Sequencing
FORMS AND DOCUMENTS
TEST DETAILS
- Genes:
- SDHD
- 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:
- 324
- Turnaround Time:
- 4-6 weeks
- Preferred Specimen:
- 2-5 mL Blood - Lavender Top Tube
BILLING
- CPT Codes:
- 81404x1
- Billing Information:
- View Billing Policy
- ICD Codes:
-
- 255.6: Medulloadrenal hyperfunction, Catecholamine secretion by pheochromocytoma
- 194: Adrenal gland, Adrenal cortex, Adrenal medulla, Suprarenal gland
REFERENCES
- Baysal et al. (2002) J Med Genet 39(3):178-83
- Gimenez-Roqueplo AP. (2006) Ann N Y Acad Sci 1073:112-21
- Pasini et al. (2008) Eur J Hum Genet 16:79-88
- Ni et al. (2008) Am J Hum Genet 83:261-8
- Taschner et al., (2001) Genes Chromosomes Cancer 31:274–81
- Baysal et al. (2004) J Med Genet 41(9):703-9
- Cascon et al. (2006) Genes Chromosomes Cancer 45(3):213-9
- Badenhop et al. (2004) J Med Genet 41:e99
- McWhinney et al. (2004) J Clin Endocrinol Metab 89(11):5694-9
- Ricketts et al. (2008) J Natl Cancer Inst 100:1260-2
- Neumann et al. (2009) Cancer Res 69:3650-6
- Mannelli et al. (2009) J Clin Endocrinol Metab 94(5):1541-7
- Schiavi et al. (2005) JAMA 294:2057-63
- Amar et al. (2005) J Clin Oncol 23:8812-8
- Jimenez et al. (2006) J Clin Endocrinol Metab 91:2851-8
- Hao et al. (2009) Science 235:1139-42
- Bayley et al. (2010) Lancet Oncol 11:366-72
- Burnichon et al. (2010) Hum Mol Genet 19(15):3011-20
