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| Interpretive Data: |
#ExistInterpData>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
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#ExistCPT>
| CPT Code(s): |
81404, 81403
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#ExistCrossReferences>
Cross References: |
Congenital Polycythemia (von Hippel-Lindau (VHL) Sequencing and Deletion/Duplication)
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