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

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

2843
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

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

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

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

2842
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

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

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)|Buccal Swabs

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