FH Select Exons Sequencing

Forms and Documents

Test Details

FH
  • Confirmation of a clinical diagnosis
  • To differentiate HLRCC from other hereditary cancer predisposition syndromes such as VHL and BHD
  • To determine an appropriate medical surveillance and treatment plan for at risk family members
  • Carrier testing for parents of a child with FHD
  • Risk assessment
  • Prenatal diagnosis in FHD families with known mutations
  • Capillary Sequencing

Ordering

2841
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)

Billing

81479x1
No
Yes
  • 189 Malignant neoplasm of kidney and other and unspecified urinary organs Excludes: benign carcinoid tumor of kidney (209.64) malignant carcinoid tumor of kidney (209.64)
  • 215 Other benign neoplasm of connective and other soft tissue
  • 218 Uterine leiomyoma Includes: fibroid (bleeding) (uterine) uterine: fibromyoma myoma
* For price inquiries please email zebras@genedx.com

References

  1. Ricketts C et al. J Natl Cancer Inst 2008; 100:1260-126
  2. Wei M-H. et al., Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer. J Med Genet. 2006; 43:18-27
  3. Toro, J.R. et al., Mutations in the Fumarate Hydratase Gene Cause Hereditary Leiomyomatosis and Renal Cell Cancer in Families in North America. Am J Hum Genet. 2003; 73:95-106
  4. Alam, N.A. et al., Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis, renal cancer, and fumarate hydratase deficiency. Hum Mol Genet 2003; 12:1241-1252
  5. Coughlin et al., Molecular analysis and prenatal diagnosis of human fumarase deficiency. Molec Genet and Metab 1998; 63:254-262
  6. Ahvenainen et al. Cancer Genet Cyto 2008; 183:83-88