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Uveal Melanoma Genetic Prognostic Test
Clinical Genetic Test
Help
offered by
Impact Genetics
View lab's test page
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GTR Test Accession: Help GTR000520104.13
NYS CLEP
INHERITED DISEASEINHERITED DISEASE SUSCEPTIBILITYCANCER ... View more
Last updated in GTR: 2024-10-10
View version history
Last annual review date for the lab: 2024-10-15 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Drug Response; Monitoring; ...
Conditions (2): Help
Melanoma, uveal, susceptibility to, 1; Melanoma, uveal, susceptibility to, 2
Chromosomal regions/ Mitochondria (4): Help
Chromosome 1; Chromosome 3; Chromosome 6; Chromosome 8
Genes (4): Help
EIF1AX (Xp22.12); GNA11 (19p13.3); GNAQ (9q21.2); SF3B1 (2q33.1)
Methods (3): Help
Molecular Genetics - Deletion/duplication analysis: Multiplex Ligation-dependent Probe Amplification (MLPA); ...
Target population: Help
Patients who have a diagnosis of ocular melanoma. Prognostic testing …
Clinical validity: Help
Not provided
Clinical utility: Help
Guidance for management; Guidance for selecting a drug therapy and/or dose; Lifestyle planning; ...
Ordering Information
Offered by: Help
Impact Genetics
View lab's website
View lab's test page
Manufacturer's name: Help
Uveal Melanoma Genetic Prognostic Test
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
  • Registered Nurse
Test Order Code: Help
Available via Lab Corp for U.S. Customers. Lab Corp order #48033
View other test codes
CPT codes: Help
**AMA CPT codes notice

Copyright: 2023 American Medical Association. All rights reserved.

Lab contact: Help
Jaime Jessen, MSc, CGC, Certified Genetic counselor, CGC, Genetic Counselor
[email protected]
647-631-3266
Contact Policy: Help
Post-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
Pre-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
How to Order: Help
1. E-mail [email protected] that a sample is being sent
2. Download, fill in, and include required forms (available at www.impactgenetics.com)
3. Prepare the Sample as per the Guidelines provided
4. Ship the Sample to us for testing

For U.S. Customers please provide Lab Corp TRF 1900 comprehensive genetics form …
View more
Order URL
Test service: Help
Custom Deletion/Duplication Testing
Data Storage and Backup
Result interpretation
Uniparental Disomy (UPD) Testing
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Yes
Test strategy: Help
http://impactgenetics.com/wp-content/uploads/2013/03/Impact-Genetics-Uveal-Melanoma-Test-Description-Web.pdf
View citations (8)
  • Identification of chromosomes 3, 6, and 8 aberrations in uveal melanoma by microsatellite analysis in comparison to comparative genomic hybridization. Tschentscher F, et al. Cancer Genet Cytogenet. 2000;122(1):13-7. doi:10.1016/s0165-4608(00)00266-1. PMID: 11104026.
  • 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. Shields CL, et al. Arch Ophthalmol. 2007;125(8):1017-24. doi:10.1001/archopht.125.8.1017. PMID: 17698747.
  • Translating uveal melanoma cytogenetics into clinical care. Damato B, et al. Arch Ophthalmol. 2009;127(4):423-9. doi:10.1001/archophthalmol.2009.40. PMID: 19365018.
  • Damato B, Dopierala JA, Coupland SE. Genotypic profiling of 452 choroidal melanomas with multiplex ligation-dependent probe amplification. Clin Cancer Res. 2010;16(24):6083-92. doi:10.1158/1078-0432.CCR-10-2076. Epub 2010 Oct 25. PMID: 20975103.
  • Damato B, Eleuteri A, Taktak AF, Coupland SE. Estimating prognosis for survival after treatment of choroidal melanoma. Prog Retin Eye Res. 2011;30(5):285-95. doi:10.1016/j.preteyeres.2011.05.003. Epub 2011 May 30. PMID: 21658465.
  • 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;106(6):1171-6. doi:10.1038/bjc.2012.54. Epub 2012 Feb 21. PMID: 22353812.
  • Werdich XQ, Jakobiec FA, Singh AD, Kim IK. A review of advanced genetic testing for clinical prognostication in uveal melanoma. Semin Ophthalmol. 2013;28(5-6):361-71. doi:10.3109/08820538.2013.825290. Epub 2013 Sep 06. PMID: 24010756.
  • Prognostic implications of monosomy 3 in uveal melanoma. Prescher G, et al. Lancet. 1996;347(9010):1222-5. doi:10.1016/s0140-6736(96)90736-9. PMID: 8622452.
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
No
Conditions Help
Total conditions: 2
Condition/Phenotype Identifier
Test Targets
Chromosomal regions/Mitochondria Help
Total chromosomal regions/mitochondria: 4
Chromosomal region/Mitochondrion Associated condition
Genes Help
Total genes: 4
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 3
Method Category Help
Test method Help
Instrument
Deletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
Applied Biosystems 3730 capillary sequencing instrument
Microsatellite instability testing (MSI)
Microsatellite Analysis (MSA)
Mutation scanning of select exons
Bi-directional Sanger Sequence Analysis
Applied Biosystems 3730 capillary sequencing instrument
Clinical Information
Test purpose: Help
Diagnosis; Drug Response; Monitoring; Mutation Confirmation; Predictive; Prognostic; Recurrence; Risk Assessment; Screening; Therapeutic management
Clinical utility: Help
Guidance for management
View citations (1)

Guidance for selecting a drug therapy and/or dose
View citations (1)

Lifestyle planning
View citations (1)

Predictive risk information for patient and/or family members
View citations (1)
  • Damato B, Dopierala JA, Coupland SE. Genotypic profiling of 452 choroidal melanomas with multiplex ligation-dependent probe amplification. Clin Cancer Res. 2010;16(24):6083-92. doi:10.1158/1078-0432.CCR-10-2076. Epub 2010 Oct 25. PMID: 20975103.

Target population: Help
Patients who have a diagnosis of ocular melanoma. Prognostic testing uses MLPA and MSA for chromosomes 1, 3, 6 and 8 and sequencing of GNAQ,GNA11, SF3B1, EIF1AX
View citations (2)
  • Ciolino JB, Hoare TR, Iwata NG, Behlau I, Dohlman CH, Langer R, Kohane DS. A drug-eluting contact lens. Invest Ophthalmol Vis Sci. 2009;50(7):3346-52. doi:10.1167/iovs.08-2826. Epub 2009 Jan 10. PMID: 19136709.
  • Damato B, Dopierala JA, Coupland SE. Genotypic profiling of 452 choroidal melanomas with multiplex ligation-dependent probe amplification. Clin Cancer Res. 2010;16(24):6083-92. doi:10.1158/1078-0432.CCR-10-2076. Epub 2010 Oct 25. PMID: 20975103.
Variant Interpretation:
Will the lab re-contact the ordering physician if variant interpretation changes? Help
Yes.
Recommended fields not provided:
Clinical validity, What is the protocol for interpreting a variation as a VUS?, Are family members with defined clinical status recruited to assess significance of VUS without charge?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Test Procedure: Help
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 inUM tumor for confirmation of tumor sampling
Test Platform:
None/not applicable
Test Comments: Help
http://impactgenetics.com/wp-content/uploads/2013/03/Impact-Genetics-Uveal-Melanoma-Test-Description-Web.pdf
Availability: Help
Tests performed
Entire test performed in-house

Test performance comments
http://impactgenetics.com/about-us/the-company/
Analytical Validity: Help
Our lab performed two analytical accuracy test for MSA and MLPA, one by comparing results between labs and another by comparing results between methods (MLPA and MSA) 14 sample sets tested for MSA and MLPA
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Inter-Laboratory

Description of PT method: Help
Inter-laboratory sharing of blinded samples
VUS:
Software used to interpret novel variations Help
SIFT, Polyphen-2, AlignGVGD, MutationTaster, SpliceSiteFinder-like, MaxEntScan, NNSPLICE, GeneSplicer, Human Splicing Finder
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, PT Provider, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Category: Not Applicable
NYS CLEP Approval: Help
Number: 9131
Status: Approved
Additional Information
Practice guidelines:
Consumer resources:

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.