Uveal Melanoma Prognostic
Test Mnemonic
UVEAL
CPT Codes
- 81294 - QTY (1)
- 81406 - QTY (1)
- 81403 - QTY (2)
- 81470 - QTY (1)
Includes
- Copy number testing on chromosomes 1p, 3,6, and 8 to detect monosomy, disomy, and trisomy
- Microsatellite analysis on Chromosome 3 to detect loss of a chromosome copy and isodisomy
- GNAQ and GNA11 sequencing to detect frequently occurring mutations
Performing Laboratory
Impact Genetics
FDA Category
Laboratory Developed Test
Specimen Requirements
| Volume | Type | Container | Collect Temperature | Transport Temperature | Special Instructions |
|---|---|---|---|---|---|
| Two | Aspirate, fine needle | Other | Ambient | THIS TEST REQUIRES MULTIPLE SPECIMEN TYPES; FNA should be placed into Qiagen Cell Lysis solution. *OR* Un-fixed, fresh or frozen tumor tissue biopsy in a sterile collection tube; Refrigerate/Freeze until ready to ship; All samples should be transported in an Impact Genetics kit. Informed consent is required. Patient history, Specimen information, and Histology information are required. Kits are available through Impact Genetics (877-624-9769) or Cleveland Clinic Client Services at 800-628-6816 or 216-444-5755. | |
| 10 mL | Whole blood | ACD A or B (Yellow) | Ambient | THIS TEST REQUIRES MULTIPLE SPECIMEN TYPES: *OR* 10mL Whole blood EDTA Lavender *OR* One cytology brush for buccal swab collection: 1) Gently rinse mouth with water 2) Scrape the inside of the patient's mouth using 10 strokes with one of the collection brushes in the kit. Either cheek is fine. 3) Cut handle from the collection brush using sterile scissors 4) Place brush in the collection tube in kit. 5) Label with patient's name and date of birth. 6)Briefly vortex to ensure sample is immersed in Cell Lysis Solution. *OR* 200 ng extracted DNA |
Stability
| Environmental Condition | Description |
|---|---|
| Ambient | Whole blood: 2 weeks, Buccal swab: 2 years in Cell Lysis Solution, Tumor sample: 2 years in Cell Lysis Solution, Extracted DNA: Not recommended |
| Refrigerated | Whole blood: > 2 weeks, Buccal swab: 2 years in Cell Lysis Solution, Tumor sample: 2 years in Cell Lysis Solution, Extracted DNA: 20 years |
| Frozen | Whole blood: Unacceptable, Buccal swab: Unacceptable, Tumor sample: Undetermined, Extracted DNA: Not recommended |
Days Performed
Mon - Fri
Turnaround Time
4 - 7 weeks
Methodology
| Name | Description |
|---|---|
| Multiplex-Ligation Probe Amplification (MLPA) | |
| Sequencing | |
| Microsatellite Analysis (MSA) |
Special Info
Tumor samples may be safely sent with up to 2 days in transit. A biopsy may be taken at the time of plaque insertion or on the last day of proton beam radiotherapy. A biopsy may be taken from an enucleated eye.
Clinical Info
Prognosis: Factors contributing to the survival prognosis of a patient with uveal melanoma include clinical tumor stage, histologic grade of malignancy and genetics of the tumor. These factors considered together provide the best indication of whether metastatic disease will develop and when this is likely to happen [Eleuteri, A. et al. 2012. Int. J. Biom Eng and Tech ]. Irrespective of result, patients report a desire for prognostic information, in large part because they find it difficult to cope with uncertainty regarding their prospects for future health and survival. Neither mental health nor quality of life scores differ significantly based on test result [Beran, T. et al. 2009. J. Genet Counsel ]. Prognostication may also contribute to treatment selection, possibly encouraging more aggressive therapy if the tumor is predicted to have a high risk of metastasis.