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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
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 |