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VHL DNA Sequencing Test - Athena #858
MessageThis test is currently only available in BHS CPRS. If you are a Bedford provider and wish to see this test offered in Bedford CPRS- please contact the Bedford Laboratory.
Test Code
VHL EVAL(ATH#858)
Alias/See Also
Von Hippel Landau Syndrome Test
Preferred Specimen
Whole blood - Lavender EDTA - 3 tubes
Minimum Volume
Preferred: 8 mL
Minimum: 6 mL
Minimum: 6 mL
Transport Temperature
Room temperature. Avoid freezing.
Specimen Stability
Room temperature: 10 days
Refrigerated: 10 days
Frozen: Unacceptable
Refrigerated: 10 days
Frozen: Unacceptable
Methodology
Sanger Sequencing
Report Available
28 - 42 days
Reference Range
Provided with patient report in CPRS
Clinical Significance
Type of disorder: Family Cancer Syndromes
Typical presentation: Vision loss, headache, slurred speech, nystagmus, positional vertigo, dysmetria, hypertension, palpitations, tachycardia, nausea
Indications for testing: Cerebellar hemangioblastoma; Retinal hemangioblastoma; Pheochromocytoma; Family history of VHL
Disease(s) tested for: Von Hippel-Lindau Syndrome
Utility: Detects mutations in the coding sequence of VHL
Typical presentation: Vision loss, headache, slurred speech, nystagmus, positional vertigo, dysmetria, hypertension, palpitations, tachycardia, nausea
Indications for testing: Cerebellar hemangioblastoma; Retinal hemangioblastoma; Pheochromocytoma; Family history of VHL
Disease(s) tested for: Von Hippel-Lindau Syndrome
Utility: Detects mutations in the coding sequence of VHL
Performing Laboratory
Athena Diagnostics, Inc.
200 Forest Street, 2nd Floor
Marlborough, MA 01752
Additional Information
Link to Athena Diagnostics test catalog
Last Updated: December 18, 2015
