| Interpretive Data: |
Background Information for von Hippel-Lindau (VHL) Sequencing:
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: 72 percent for VHL syndrome, approximately 20 percent for congenital polycythemia.
Methodology: Bidirectional sequencing of the entire coding region and intron-exon boundaries of the VHL gene.
Analytical Sensitivity and Specificity: 99 percent.
Limitations: Rare diagnostic errors can occur due to primer site mutations. Regulatory region mutations, deep intronic mutations, and large deletion/duplications will not be detected.
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
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| CPT Code(s): |
81404
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Cross References: |
Chuvash Polycythemia (von Hippel-Lindau (VHL) Sequencing)
, Congenital Polycythemia (von Hippel-Lindau (VHL) Sequencing)
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