VHL Gene Analysis Full Gene Sequence
Label Mnemonic: VHLDNA
Epic Lab Code: LAB4259
Downtime Form: A-1a Miscellaneous Request
Commercial Mail-out Laboratory
5231 RCP
356-8593
Specimen(s):
Whole Blood
Specimen Instructions:
Transfusions will interfere with testing for up to 4 to 6 weeks. DNA obtained from white cells may not provide useful information for patients who received a recent transfusion of blood that was not leukocyte-reduced. Wait 4 to 6 weeks until transfused cells have left the patient's circulation before drawing the patient's blood specimen for genotype testing.
Collection Medium:
Lavender top tube 3 mL (EDTA)
Minimum:
Preferred Minimum: 3.0 mL whole blood in lavender (EDTA) tube

Specimen preferred to arrive reference laboratory within 96 hours of collection.
Delivery Instructions:
Submit specimen to laboratory as soon as possible after collection.
Turn Around Time:
14 days upon receipt at reference laboratory
Reference Range:
An interpretive report will be provided.
Interpretive Data:
Evaluation and categorization of variants is performed using the most recent published American College of Medical Genetics recommendations as a guideline. Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.

Multiple in silico evaluation tools may be used to assist in the interpretation of these results. The accuracy of predictions made by in silico evaluation tools is highly dependent upon the data available for a given gene, and predictions made by these tools may change over time. Results from in silico evaluation tools should be interpreted with caution and professional clinical judgment.
Comments:
Please print, complete and submit the Informed Consent for Genetic Testing and the VHL Gene Testing Patient Information Sheet from the Mayo Medical Laboratories with the specimen and the A-1a Miscellaneous Request.

Useful For:
•Diagnosis of suspected von Hippel-Lindau (VHL) disease
•Diagnosis of suspected VHL-related hereditary erythrocytosis
Methodology:
Polymerase Chain Reaction (PCR) Amplification/DNA Sequencing and Deletion Detection by Multiplex Ligation-Dependent Probe Amplification (MLPA).
CPT Code:
81404-VHL (von Hippel-Lindau tumor suppressor) (eg, von Hippel-Lindau familial cancer syndrome), full gene sequence
81403-VHL duplication/deletion