Fumarate Hydratase Deficiency

Fumarate hydratase deficiency (FHD) is a rare disorder characterized by excessive urinary excretion of fumarate, severe neurologic impairment, seizures, hypotonia, growth and developmental delay, structural brain malformations, dysmorphic facial features, and neonatal polycythemia with death typically occurring within the first decade. There have been approximately 30 patients with FHD described in the literature.

Tests Available

Forms and Documents

Test Details

  • 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

Ordering

2843
3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81405x1
No
Yes
  • 215 Other benign neoplasm of connective and other soft tissue
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

  1. 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
  2. Ahvenainen et al. Cancer Genet Cyto 2008; 183:83-88
  3. Coughlin et al., Molecular analysis and prenatal diagnosis of human fumarase deficiency. Molec Genet and Metab 1998; 63:254-262
  4. 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
  5. 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
  6. Ricketts C et al. J Natl Cancer Inst 2008; 100:1260-126

Forms and Documents

Test Details

  • An individual with a personal history of features associated with autosomal dominant hereditary leiomyomatosis and renal cell cancer (HLRCC, also referred to as Reed syndrome), especially cutaneous leiomyomas (smooth muscle tumors of the skin), symptomatic and/or multiple uterine leiomyomas (fibroids) before age 40 years, and/or tubulo-papillary, collecting-duct, or papillary type II renal cell carcinoma
  • An individual with a personal and/or family history of features associated with autosomal recessive fumarate hydratase deficiency, such as excessive urinary excretion of fumurate, neonatal hypotonia, growth and developmental delay, seizures, structural brain malformations, severe neurologic impairment, dysmorphic facial features, and neonatal polycythemia
  • An unaffected individual with a family history suggestive of HLRCC (see above) when an affected individual is unavailable for his or her own genetic testing

Ordering

713
3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Fibroblasts (separate charge for cell culture may apply)

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81405x1, 81479x1
No
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

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. Ahvenainen et al. Cancer Genet Cyto 2008; 183:83-88