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.



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, 81403
Components
Component Test Code*Component Chart Name
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