VHL Gene Analysis Full Gene Sequence
Commercial Mail-out Laboratory
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.
|Lavender top tube 3 mL (EDTA)
Preferred Minimum: 3.0 mL whole blood in lavender (EDTA) tube
Specimen preferred to arrive reference laboratory within 96
hours of collection.
Submit specimen to laboratory as soon as possible after collection.
14 days upon receipt at reference laboratory
An interpretive report will be provided.
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.
Polymerase Chain Reaction (PCR) Amplification/DNA Sequencing and
Deletion Detection by Multiplex Ligation-Dependent Probe Amplification
81404-VHL (von Hippel-Lindau tumor suppressor) (eg, von Hippel-Lindau
familial cancer syndrome), full gene sequence