Ordering Recommendation

Preferred test to confirm a suspected diagnosis of von Hippel-Lindau syndrome.




Polymerase Chain Reaction/Sequencing/Multiplex Ligation-dependent Probe Amplification




21-28 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 (K2EDTA), 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: 1 week; Refrigerated: 1 month; Frozen: 6 months

Reference Interval

Interpretive Data

Background Information for von Hippel-Lindau (VHL) Sequencing and Deletion/Duplication:
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 Chuvash region of central Russia.
Inheritance of VHL Syndrome:
Autosomal dominant; de novo pathogenic variants occur in 20 percent of VHL cases.
Inheritance of Congenital Polycythemia:
Autosomal recessive.
Penetrance for VHL Syndrome:
Nearly complete by age 65.
Pathogenic germline VHL gene variants.
Clinical Sensitivity:
Greater than 99 percent for VHL syndrome, approximately 20 percent for congenital polycythemia.
Bidirectional sequencing and multiplex ligation-dependent probe amplification (MLPA) of the entire coding region and intron-exon boundaries of the VHL gene.
Analytical Sensitivity and Specificity of Sequencing
: 99 percent.
Analytical Sensitivity and Specificity of MLPA:
90 and 98 percent, respectively.
: Diagnostic errors can occur due to rare sequence variations. Regulatory region variants and deep intronic variants will not be detected. Single exon deletion/duplications may not be detected due to probe location. Deletion/duplication breakpoints will not be determined. This assay is not designed to detect somatic variants associated with malignancy. Test result may be impacted if the patient has had an allogeneic stem cell transplantation.

This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the US Food and Drug Administration. This test was performed in a CLIA certified laboratory and is intended for clinical purposes.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Compliance Category

Laboratory Developed Test (LDT)


Hotline History


CPT Codes

81404; 81403


Component Test Code* Component Chart Name LOINC
2002966 VHL FGA Specimen 66746-9
2002967 VHL Interpretation 82533-1
* 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.


  • Congenital Polycythemia
  • VHL (von Hippel-Lindau) Gene
  • VHL sequencing and deletion/duplication assay
von Hippel-Lindau (VHL) Sequencing and Deletion/Duplication (INACTIVE as of 11/15/21)