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Test Details
Test Includes
Copy number testing (using MLPA) on chromosomes 1p, 3, 6, and 8 to detect monosomy, disomy, and trisomy; microsatellite analysis (MSA) on chromosome 3 to detect loss of a chromosome copy and isodisomy; sequencing GNAQ and GNA11 to detect frequently occurring mutations in UM tumor for confirmation of tumor sampling.
Use
Genetic testing of eye tumor tissue to determine whether the original eye tumor has a high risk of metastasis
Limitations
This test was developed, and its performance characteristics determined, by LabCorp. It has not been cleared or approved by the US Food and Drug Administration (FDA).
Methodology
Multiplex ligation-dependent probe amplification (MLPA); microsatellite analysis; sequencing
Specimen Requirements
Specimen
Whole blood or buccal swab and tumor biopsy (FNAB or other)
Volume
8.5 mL whole blood
Minimum Volume
4 mL whole blood
Container
Yellow-top (ACD) tube or lavender-top (EDTA) tube. Collection kits for buccal swabs and tumors should be ordered directly from Impact Genetics.
Collection
Whole blood samples must be received at Impact Genetics within five days of collection. Do not freeze.
Storage Instructions
Room temperature. Whole blood is stable at room temperature for five days. Buccal swab and tumor in Impact Genetics collection kit is stable for 21 days.
Clinical Information
Special Instructions
This test is performed at Impact Genetics, Bowmanville, Ontario, Canada. Please direct any questions regarding this test to Impact Genetics at 877-624-9769.
References
Damato B, Coupland SE. Translating uveal melanoma cytogenetics into clinical care. Arch Ophthalmol. 2009 Apr;127(4):423-429. 19365018
Damato B, Dopierala JA, Coupland SE. Genotypic profiling of 452 choroidal melanomas with multiplex ligation-dependent probe amplification. Clin Cancer Res. 2010 Dec 15; 16(24):6083-6092. 20975103
Damato B, Eleuteri A, Taktak AF, Coupland SE. Estimating prognosis for survival after treatment of choroidal melanoma. Prog Retin Eye Res. 2011 Sep; 30(5):285-295. 21658465
Eleuteri A, Damato B, Coupland SE, Taktak AF. Enhancing survival prognostication in patients with choroidal melanoma by integrating pathologic, clinical and genetic predictors of metastasis. Int J Biomedical Eng Tech. 2012 Jan 1; 8(1):18-35.
Kivelä T, Harbour JW, Coupland SE, et al. Malignant melanoma of uvea. In: Edge SB, Byrd DR, Compton CC, Fritz AG, Greene FL, Trotti A, eds; American Joint Committee on Cancer. AJCC Cancer Staging Manual. 7th ed. New York, NY: Springer-Verlag; 2010.
Koopmans AE, Vaarwater J, Paridaens D, Naus NC, Kilic E, de Klein A; Rotterdam Ocular Melanoma Study Group. Patient survival in uveal melanoma is not affected by oncogenic mutations in GNAQ and GNA11. Br J Cancer. 2013 Jul 23; 109(2):493-496. 23778528
Prescher G, Bornfeld N, Hirche H, Horsthemke B, Jöckel KH, Becher R. Prognostic implications of monosomy 3 in uveal melanoma. Lancet. 1996 May 4; 347(9010):1222-1225. 8622452
Shields CL, Ganguly A, Materin MA, et al. Chromosome 3 analysis of uveal melanoma using fine-needle aspiration biopsy at the time of plaque radiotherapy in 140 consecutive cases: The Deborah Iverson, MD, Lectureship. Arch Ophthalmol. 2007 Aug; 125(8):1017-1024. 17698747
Thomas S, Pütter C, Weber S, Bornfeld N, Lohmann DR, Zeschnigk M. Prognostic significance of chromosome 3 alterations determined by microsatellite analysis in uveal melanoma: A long-term follow-up study. Br J Cancer. 2012 Mar 13;106(6):1171-1176. 22353812
Tschentscher F, Prescher G, Zeschnigk M, Horsthemke B, Lohmann DR. Identification of chromosome 3, 6, and 8 aberrations in uveal melanoma by microsatellite analysis in comparison to comparative genomic hybridization. Cancer Genet Cytogenet. 2000 Oct 1;122(1):13-17. 11104026
Uveal Melanoma TNM Staging and Survivorship. Available at: http://ocularmelanomaonline.org. Accessed April 11, 2016.
Van Raamsdonk CD, Griewank KG, Crosby MB, et al. Mutations in GNA11 in uveal melanoma. N Engl J Med. 2010 Dec 2; 363(23):2191-2199. 21083380
Werdich XQ, Jakobiec FA, Singh AD, Kim IK. A review of advanced genetic testing for clinical prognostication in uveal melanoma. Semin Ophthalmol. 2013 Sep-Nov; 28(5-6):361-371. 24010756
LOINC® Map
| Order Code | Order Code Name | Order Loinc | Result Code | Result Code Name | UofM | Result LOINC |
|---|---|---|---|---|---|---|
| 480344 | Uveal Melanoma Rates | 233907 | Routing | 41103-3 |
| Reflex Table for Routing | ||||||
|---|---|---|---|---|---|---|
| Order Code | Order Name | Result Code | Result Name | UofM | Result LOINC | |
| Reflex 1 | 480628 | Copy # Chr 1p, 3, 6, 8 | 480628 | Copy # Chr 1p, 3, 6, 8 | N/A | |
| Reflex Table for Routing | ||||||
|---|---|---|---|---|---|---|
| Order Code | Order Name | Result Code | Result Name | UofM | Result LOINC | |
| Reflex 1 | 480425 | Microsatellite Chr 3 | 480425 | Microsatellite Chr 3 | N/A | |
| Reflex Table for Routing | ||||||
|---|---|---|---|---|---|---|
| Order Code | Order Name | Result Code | Result Name | UofM | Result LOINC | |
| Reflex 1 | 480577 | Reflex - sequencing of GNA11 | 480577 | Reflex - sequencing of GNA11 | N/A | |
| Reflex Table for Routing | ||||||
|---|---|---|---|---|---|---|
| Order Code | Order Name | Result Code | Result Name | UofM | Result LOINC | |
| Reflex 1 | 480575 | Reflex - sequencing GNAQ | 480575 | Reflex - sequencing GNAQ | N/A | |