ARUP's Laboratory Test Directory

von Hippel-Lindau (VHL) Deletion/Duplication : 2002988
[ 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 DELDUP

Ordering Recommendation: Diagnostic testing for von Hippel-Lindau syndrome. Predictive testing for von Hippel-Lindau syndrome.
Methodology: Polymerase Chain Reaction/Multiplex Ligation-dependent Probe Amplification
Performed: Varies
Reported: Within 14 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) 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.
Incidence of VHL Syndrome: 1 in 36,000 Caucasian births.
Inheritance of VHL Syndrome: Autosomal dominant; de novo mutations occur in 20 percent of VHL cases.
Penetrance for VHL Syndrome: Nearly complete by age 65.
Cause: Pathogenic VHL gene mutations.
Clinical Sensitivity: 28 percent for VHL syndrome.
Methodology: Multiplex ligation-dependent probe amplification (MLPA) of the VHL coding region and intron-exon boundaries.
Analytical Sensitivity and Specificity: 90 and 98 percent, respectively.
Limitations: Rare diagnostic errors can occur due to probe site mutations. VHL single base pair substitutions, small deletions/duplications, 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): 81403