Lab Test

von Hippel Lindau (VHL) Disease

Test Codes

Testing requires pathology approval prior to collection. Prevention Code: 7523

Instructions

This test is not included in the Beaumont Laboratory testing formulary, however, the Laboratory can facilitate specimen collection.

  • This test requires pathology review. Contact the Send Outs Laboratory at 248-551-9045 before ordering this test.
  • Testing requires the ordering physician to complete forms for the independent clinical laboratory performing the testing.
  • This test will be billed to the patient's insurance. If not covered by insurance, the patient is responsible for the full cost of testing.
  • Specimens received without the appropriate forms and information will not be shipped.
  • Once approved, order test as a Miscellaneous Send Out (XMISC). 

Specimen Collection Criteria

Collect: Two Lavender-top EDTA tubes, after obtaining necessary pathology approval. (Minimum: 6.0 mL adult or 1.0 mL pediatric)

Physician Office/Draw Specimen Preparation

Do not centrifuge or freeze. Maintain whole blood refrigerated (2-8°C or 36-46°F) prior to transport. Pathology review and all appropriate forms must be completed prior to specimen transport.

Preparation for Courier Transport

Transport: Whole blood with all appropriate forms and information, refrigerated (2-8°C or 36-46°F).

Rejection Criteria

Specimens received without prior Laboratory notification and review.

Specimens not collected and processed as indicated.

In-Lab Processing

Do not centrifuge or freeze. Maintain whole blood refrigerated (2-8°C or 36-46°F) prior to transport. Pathology review and all appropriate forms must be completed prior to specimen transport.

Transport: Whole blood with all appropriate forms and information, refrigerated (2-8°C or 36-46°F).

Storage

Specimen Stability for Testing:

Room Temperature (20-26°C or 68-78.8°F): 48 hours
Refrigerated (2-8°C or 36-46°F): 7 days
Frozen (-20°C/-4°F or below): Unacceptable

Specimen Storage in Department Prior to Disposal:

Specimen retention time is determined by the policy of the reference laboratory. Contact the Send Outs Laboratory with any questions.

Laboratory

Sent to Prevention Genetic, Marshfield, WI.

Performed

Results available in 21-30 days.

Reference Range

By report.

Test Methodology

Direct DNA analysis of the coding region and splice junctions, Multiplex Ligation-Dependent Probe Amplification (MLPA) gene deletions after negative sequence.

Clinical Utility

This assay aids in the early diagnosis of von-Hippel Lindau disease so that increased surveillance can be initiated for the detection of early tumors and to prevent death from hemangioblastomas, pheochromocytomas and renal cell carcinomas. This test is also used for prenatal diagnosis.

Clinical Disease

von-Hippel Lindau disease is a potentially lethal autosomal dominant disorder predisposing the patient to benign and malignant tumors of the brain, spine, retina, pancreas, adrenals and kidneys.

CPT Codes

81404 (Sequencing), 81403 (MLPA).

Contacts

Last Updated

4/10/2021

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