FH Gene Sequencing & Del/Dup
Genes
Conditions
- Fumarate Hydratase Deficiency
- Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC)
Clinical Utility
- 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
Lab Method
- Capillary Sequencing
- Deletion/Duplication Analysis
Test Code
713
CPT Codes*
81405x1, 81479x1
ABN Required
No
Turnaround Time**
3 weeks
Preferred Specimen
Alternative Specimen
*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.
**Turnaround times are estimates and begin once the sample(s) begin processing at the GeneDx lab and could be extended in situations outside GeneDx’s control.
Test Documents
Billing
Targeted Variant Testing