Forms and Documents
- 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
*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.
**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.
- Ricketts C et al. J Natl Cancer Inst 2008; 100:1260-126
- 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
- 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
- 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
- Ahvenainen et al. Cancer Genet Cyto 2008; 183:83-88