von Hippel-Lindau (VHL) Sequencing
Ordering Recommendation
Diagnostic testing for von Hippel-Lindau syndrome.  Predictive testing for von Hippel-Lindau syndrome.  Diagnostic testing for congenital polycythemia.
Polymerase Chain Reaction/Sequencing
Within 14 days
New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
Specimen Required
Patient Preparation
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).  
Specimen Preparation
Transport 3 mL whole blood. (Min: 1 mL)  
Storage/Transport Temperature
Unacceptable Conditions
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable  
Reference Interval
Interpretive Data
Background Information for von Hippel-Lindau (VHL) Sequencing:
Characteristics of von Hippel-Lindau (VHL) Syndrome:
Retinal, cerebellar or spinal hemangioblastoma; renal cell carcinoma; pheochromocytoma; endolymphatic sac tumors; pancreatic endocrine tumors, and hemangiomas of adrenals, lungs, and liver.
Characteristics of Congenital Polycythemia:
Increased serum erythropoietin levels and hemoglobin concentrations during normoxia causing increased red blood cell mass; associated with increased mortality from thrombotic and hemorrhagic vascular complications.
Incidence of VHL Syndrome:
1 in 36,000 Caucasian births.
Incidence of Congenital Polycythemia:
Rare worldwide; endemic in Cuvash region of central Russia.
Inheritance of VHL Syndrome:
Autosomal dominant; de novo mutations occur in 20 percent of VHL cases.
Inheritance of Congenital Polycythemia:
Autosomal recessive.
Penetrance for VHL Syndrome:
Nearly complete by age 65.
Pathogenic VHL gene mutations.
Clinical Sensitivity:
72 percent for VHL syndrome, approximately 20 percent for congenital polycythemia.
Bidirectional sequencing of the entire coding region and intron-exon boundaries of the VHL gene.
Analytical Sensitivity and Specificity:
99 percent.
: Diagnostic errors can occur due to rare sequence variations. Regulatory region mutations, deep intronic mutations, and large deletion/duplications will not be detected.

Compliance Statement C: The performance characteristics of this test were validated by ARUP Laboratories. The U.S. Food and Drug Administration (FDA) has not approved or cleared this test; however, FDA approval or clearance is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. ARUP is authorized under Clinical Laboratory Improvement Amendments (CLIA) and by all states to perform high-complexity testing.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
CPT Code(s)
Component Test Code*Component Chart NameLOINC
2002971VHL FGS Specimen
2002972VHL Sequencing Interpretation
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
  • Chuvash Polycythemia
  • Congenital Polycythemia