- Fumarate Hydratase Deficiency
- Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC)
- 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
*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.
**Reporting times are typical and begin once the sample(s) are received at the GeneDx laboratory, but could be extended in situations outside GeneDx’s reasonable control.
Targeted Variant Testing