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FH Del/Dup

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
  • Prenatal diagnosis in FHD families with known mutations
Lab Method:
Exon Array CGH

ORDERING

Test Code:
906
Turnaround Time:
3-4 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
84311x1, 88271x10, 88291x1
New York Approved:
Yes
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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