ARUP's Laboratory Test Directory

von Hippel-Lindau (VHL) Sequencing and Deletion/Duplication : 2002965
[ image for: Patient History for Von Hippel-Lindau Syndrome/Congenital Polycythemia (VHL) Testing]
Patient History for Von Hippel-Lindau Syndrome/Congenital Polycythemia (VHL) Testing
[ image for: Additional Technical Information]
Additional Technical Information


Mnemonic: VHL FGA

Ordering Recommendation: Diagnostic testing for von Hippel-Lindau syndrome. Predictive testing for von Hippel-Lindau syndrome. Diagnostic testing for congenital polycythemia.
Methodology: Polymerase Chain Reaction/Sequencing/Multiplex Ligation-dependent Probe Amplification
Performed: Varies
Reported: 21-28 days
Specimen Required: 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.

Stability (collection to initiation of testing): Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
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: Rare diagnostic errors can occur due to primer or probe site mutations. 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
CPT Code(s): 81404, 81403
Cross References: Congenital Polycythemia (von Hippel-Lindau (VHL) Sequencing and Deletion/Duplication)