Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

In observance of Independence Day, GeneDx will be closed on Friday, July 3rd, and Saturday, July 4th. Nevertheless, all specimens arriving on Friday, July 3rd will be accepted, accessioned and processed. We will not accept specimens on Saturday, July 4th. We will resume our normal Monday through Saturday schedule on Monday, July 6, 2015. Please also note that FedEx works on a modified schedule on Friday, July 3rd and FedEx and UPS are closed on Saturday, July 4th. If you have any questions or inquiries, please call us at 301-519-2100 or email us at zebras@genedx.com.

FH Remaining Exons Sequencing

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
FH
Disorders:
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

ORDERING

Test Code:
2842
Turnaround Time:
4-6 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube
Alternative Specimen:
Oral Rinse (30-40 mL), Dried Blood Spots

BILLING

CPT Codes:
81479x1
New York Approved:
No
ABN Required:
Yes
Billing Information:
View Billing Policy
ICD 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 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

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