von Hippel-Lindau (VHL) Sequencing
2002970
 
Ordering Recommendation
Diagnostic testing for von Hippel-Lindau syndrome. Predictive testing for von Hippel-Lindau syndrome. Diagnostic testing for congenital polycythemia.
Mnemonic
VHL FGS
Methodology
Polymerase Chain Reaction/Sequencing
Performed
Varies
Reported
Within 14 days
New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory.
Specimen Required
Patient Preparation
 
Collect
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).  
Specimen Preparation
Transport 3 mL whole blood. (Min: 1 mL)  
Storage/Transport Temperature
Refrigerated.  
Unacceptable Conditions
 
Remarks
 
Stability
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.
Cause:
Pathogenic VHL gene mutations.
Clinical Sensitivity:
72 percent for VHL syndrome, approximately 20 percent for congenital polycythemia.
Methodology:
Bidirectional sequencing of the entire coding region and intron-exon boundaries of the VHL gene.
Analytical Sensitivity and Specificity:
99 percent.
Limitations
: Diagnostic errors can occur due to rare sequence variations. Regulatory region mutations, deep intronic mutations, and large deletion/duplications will not be detected.



Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.

See Compliance Statement C: www.aruplab.com/CS
Note
CPT Code(s)
81404
Components
Component Test Code*Component Chart Name
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, contact interface support at interface.support@aruplab.com.
Cross References
  • Chuvash Polycythemia (von Hippel-Lindau (VHL) Sequencing)
  • Congenital Polycythemia (von Hippel-Lindau (VHL) Sequencing)