von Hippel-Lindau (VHL) Sequencing and Deletion/Duplication
2002965
Ordering Recommendation
Diagnostic testing for von Hippel-Lindau syndrome.  Predictive testing for von Hippel-Lindau syndrome.  Diagnostic testing for congenital polycythemia.
Mnemonic
VHL FGA
Methodology
Polymerase Chain Reaction/Sequencing/Multiplex Ligation-dependent Probe Amplification
Performed
Varies
Reported
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
  
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 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 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:
Greater than 99 percent for VHL syndrome, approximately 20 percent for congenital polycythemia.
Methodology:
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.
Limitations
: Diagnostic errors can occur due to rare sequence variations. Regulatory region mutations and deep intronic mutations will not be detected. Deletion/duplication breakpoints will not be determined.





See Compliance Statement C: www.aruplab.com/CS
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.
 
Note
 
CPT Code(s)
81404, 81403
Components
Component Test Code*Component Chart NameLOINC
2002966VHL FGA Specimen 
2002967VHL 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.
Aliases
  • Congenital Polycythemia
  • VHL (von Hippel-Lindau) Gene
  • VHL sequencing and deletion/duplication assay