#ExistInterpData>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