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VHL Gene Sequencing & Del/Dup




  • Von Hippel-Lindau syndrome

Clinical Utility

  • An individual with a personal history and family history of tumors or other clinical features associated with Von Hippel-Lindau (VHL), such as Hemangioblastomas of the spine, brain or retina; renal and/or pancreatic cysts; renal cell carcinoma; pheochromocytomas; pancreatic neuroendocrine tumors; epididymal cystadenomas; endolymphatic sac tumors
  • An individual with early-onset renal cell carcinoma OR renal cancer at any age and a personal or family history of any other features associated with VHL
  • An individual with multiple hemangioblastomas of spine, brain, or retina OR a single hemangioblastoma and a personal or family history of other features associated with VHL
  • An individual with a pheochromocytoma, especially if young and/or bilateral.
  • An individual with a multiple renal and pancreatic cysts and a family history of other features associated with VHL
  • An unaffected individual with a family history suggestive of VHL (see above) when an affected individual is unavailable for his or her own genetic testing

Lab Method

  • Capillary Sequencing
  • Deletion/Duplication Analysis

Test Code


CPT Codes*

81403x1, 81404x1

ABN Required


Turnaround Time**

3 weeks

Preferred Specimen

2-5 mL Blood - Lavender Top Tube

Alternative Specimen

Buccal Swabs | Fibroblasts (separate charge for cell culture may apply)

*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.