Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

In observance of Thanksgiving, GeneDx will be closed and will not accept specimens on Thursday, November 26, 2015. We will accept specimens but operate on a modified schedule on Friday, November 27, 2015.  We will resume our normal schedule on Saturday, November 28, 2015.  If you have any questions or inquiries, please call us at 301-519-2100 or email us at

FH Remaining Exons Sequencing



Clinical Utility:
  • 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
  • 6. Prenatal diagnosis in FHD families with known mutations
Lab Method:
Capillary Sequencing


Test Code:
Turnaround Time:
4-6 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube
Alternative Specimen:
Oral Rinse (30-40 mL)


CPT Codes:
New York Approved:
ABN Required:
Billing Information:
View Billing Policy
* For ICD9 to ICD10 conversion please follow this link
ICD-9 Codes:
  • 215: Other benign neoplasm of connective and other soft tissue
  • 189: Kidney, except pelvis Kidney NOS, Kidney parenchyma
  • 218: Uterine leiomyoma Includes: fibroid (bleeding) (uterine) uterine: fibromyoma myoma
* For price inquiries please email


  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

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