- Patient Preparation
- Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).
- Specimen Preparation
- Transport 3 mL whole blood. (Min: 1 mL)
- Storage/Transport Temperature
- Unacceptable Conditions
- Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
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: Diagnostic errors can occur due to rare sequence variations. 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.
|Component Test Code*||Component Chart Name||LOINC|
|2002990||VHL Deletion/Duplication Interpretation|
- VHL deletion/duplication assay