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VHL Sequencing and Deletion/Duplication
Test Code93943
CPT Codes
81404, 81403
Preferred Specimen
5 mL whole blood collected in an EDTA (lavender-top) tube or ACD (yellow-top) tube
Patient Preparation
Saliva: Do not eat, drink, smoke or chew gum for 30 minutes before collection.
Buccal swab: Please refer to user instructions provided with kit. Ensure the sponge tip does not come into contact with any surface prior to collection. Do not eat, drink, smoke, or chew gum for 30 minutes before collection. Do not touch swab tips or allow contact with any other object.
Minimum Volume
2 mL whole blood • 2 mL saliva • 1 buccal swab • 10 mg skin fibroblasts • 2 flasks 75% confluent
Other Acceptable Specimens
2 mL saliva to "fill to" line collected in OGD-500, Oragene-Dx Collection Kit or
1 buccal swab submitted in OCD-100A buccal kit (ORAcollect-Dx Collection Kit) or
10 mg skin fibroblasts collected in sterile plastic container or
2 flasks skin fibroblasts collected in each of two separate sterile T25 culture flasks or equivalent with 80-100% confluent growth
1 buccal swab submitted in OCD-100A buccal kit (ORAcollect-Dx Collection Kit) or
10 mg skin fibroblasts collected in sterile plastic container or
2 flasks skin fibroblasts collected in each of two separate sterile T25 culture flasks or equivalent with 80-100% confluent growth
Instructions
Do not hold specimen. Forward to laboratory when specimen arrives.
Whole blood (preferred): Normal phlebotomy procedure. Specimen stability is crucial. Store and ship room temperature immediately. Do not freeze.
Saliva: 2 mL saliva collected in the Oragene-Dx collection kit up to the "fill to" line (OGD-500/OGD-600, OGD-510/OGD-610). Do NOT remove the plastic film from the funnel lid.
For fibroblasts and skin fibroblasts, call 1-866-GENEINFO (1-866-436-3463) prior to collecting and ordering.
Whole blood (preferred): Normal phlebotomy procedure. Specimen stability is crucial. Store and ship room temperature immediately. Do not freeze.
Saliva: 2 mL saliva collected in the Oragene-Dx collection kit up to the "fill to" line (OGD-500/OGD-600, OGD-510/OGD-610). Do NOT remove the plastic film from the funnel lid.
For fibroblasts and skin fibroblasts, call 1-866-GENEINFO (1-866-436-3463) prior to collecting and ordering.
Transport Temperature
Room temperature
Specimen Stability
Whole blood
Room temperature: 14 days
Refrigerated: 14 days
Frozen: Unacceptable
Saliva or buccal swab
Room temperature: 14 days
Refrigerated: 14 days
Frozen: 14 days
Fibroblasts and skin fibroblasts
Room temperature: 48 hours
Refrigerated: Unacceptable
Frozen: Unacceptable
Room temperature: 14 days
Refrigerated: 14 days
Frozen: Unacceptable
Saliva or buccal swab
Room temperature: 14 days
Refrigerated: 14 days
Frozen: 14 days
Fibroblasts and skin fibroblasts
Room temperature: 48 hours
Refrigerated: Unacceptable
Frozen: Unacceptable
Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
Do not reject
Methodology
DNA Bait Capture • Long Range Polymerase Chain Reaction • Next Generation Sequencing • Microarray
FDA Status
This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics. It has not been cleared or approved by FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.
Setup Schedule
Set up: Tues, Thurs, Sat; Report available: 14-21 days from completed pre-authorization
Clinical Significance
Mutations in VHL are associated with Von Hippel-Lindau syndrome. This syndrome is associated with an increased risk of kidney cancer, neuroendocrine tumors of the pancreas, retinal angioma, hemangioblastoma, and pheochromocytoma. This test detects pathogenic variants in the VHL gene.
