ARUP's Laboratory Test Directory

von Hippel-Lindau (VHL) Sequencing : 2002970
[ 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 FGS

Ordering Recommendation: Diagnostic testing for von Hippel-Lindau syndrome. Predictive testing for von Hippel-Lindau syndrome. Diagnostic testing for congenital polycythemia.
Methodology: Polymerase Chain Reaction/Sequencing
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) 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
CPT Code(s): 81404
Cross References: Chuvash Polycythemia (von Hippel-Lindau (VHL) Sequencing) , Congenital Polycythemia (von Hippel-Lindau (VHL) Sequencing)