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HelpTest ID: SDHMP SDH Genes Mutation Analysis, Next-Generation Sequencing, Tumor
Ordering Guidance
Multiple oncology (cancer) gene panels are available. For more information see Hematology, Oncology, and Hereditary Test Selection Guide.
Necessary Information
A pathology report (final or preliminary), at minimum containing the following information, must accompany specimen for testing to be performed:
1. Patient name
2. Block number-must be on all blocks, slides, and paperwork (can be handwritten on the paperwork)
3. Tissue collection date
4. Source of the tissue
Specimen Required
This assay requires at least 20% tumor nuclei.
-Preferred amount of tumor area with sufficient percent tumor nuclei: tissue 216 mm(2)
-Minimum amount of tumor area: tissue 36 mm(2)
-These amounts are cumulative over up to 10 unstained slides and must have adequate percent tumor nuclei.
-Tissue fixation: 10% neutral buffered formalin, not decalcified
-For specimen preparation guidance, see Tissue Requirement for Solid Tumor Next-Generation Sequencing. In this document, the sizes are given as 4 mm x 4mm x 10 slides as preferred: approximate/equivalent to 144 mm(2) and the minimum as 3 mm x 1 mm x 10 slides: approximate/equivalent to 36 mm(2).
Preferred:
Specimen Type: Tissue block
Collection Instructions: Submit a formalin-fixed, paraffin-embedded tissue block with acceptable amount of tumor tissue.
Acceptable:
Specimen Type: Tissue slide
Slides: 1 Stained and 10 unstained
Collection Instructions: Submit 1 slide stained with hematoxylin and eosin and 10 unstained, nonbaked slides with 5-micron thick sections of the tumor tissue.
Note: The total amount of required tumor nuclei can be obtained by scraping up to 10 slides from the same block.
Additional Information: Unused unstained slides will not be returned.
Specimen Type: Cytology slide (direct smears or ThinPrep)
Slides: 1 to 3 Slides
Collection Instructions: Submit 1 to 3 slides stained and coverslipped with a preferred total of 5000 nucleated cells or a minimum of at least 3000 nucleated cells.
Note: Glass coverslips are preferred; plastic coverslips are acceptable but will result in longer turnaround times.
Additional Information: Cytology slides will not be returned.
Useful For
Identifying specific mutations within the SDHA, SDHB, SDHC, and SDHD genes to assist in tumor diagnosis/classification, including pheochromocytoma/paraganglioma, renal cell carcinoma, and pituitary adenoma
Genetics Test Information
This test uses targeted next-generation sequencing to evaluate for somatic mutations within the SDHA, SDHB, SDHC, and SDHD genes. See Targeted Genes and Methodology Details for SDH Genes Mutation Analysis for details regarding the targeted gene regions evaluated by this test.
This test is performed to evaluate for somatic mutations within solid tumor samples. This test does not assess for germline alterations within the genes listed.
Additional Tests
| Test ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|
| SLIRV | Slide Review in MG | No, (Bill Only) | Yes |
Testing Algorithm
When this test is ordered, slide review will always be performed at an additional charge.
Method Name
Sequence Capture Next-Generation Sequencing (NGS)
Reporting Name
SDH Genes Mutation Analysis, TumorSpecimen Type
VariesSpecimen Minimum Volume
See Specimen Required
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Ambient (preferred) | ||
| Refrigerated | |||
Clinical Information
Disease-causing alterations of the succinate dehydrogenase complex genes (including SDHA, SDHB, SDHC, and SDHD) have been implicated in multiple tumor types, including pheochromocytoma/paraganglioma, renal cell carcinoma, gastrointestinal stromal tumors, and pituitary adenoma. Germline alterations of the SDH genes have been associated with hereditary pheochromocytoma/paraganglioma syndromes. The 5th edition of the World Health Organization classification of tumors recognizes succinate dehydrogenase-deficient renal cell carcinoma as a molecularly defined entity.(1) This assay, performed using formalin-fixed paraffin-embedded tissue or cytology material, is therefore helpful in documenting an underlying pathogenic alteration of the SDH genes and is diagnostically significant. Note that this assay does not distinguish between germline and somatic alterations or identify epigenetic alterations of interest (such as SDHC promoter hypermethylation).
Reference Values
An interpretive report will be provided.
Interpretation
The interpretation of molecular biomarker analysis includes an overview of the results and the associated diagnostic, prognostic, and therapeutic implications.
Clinical Reference
1. WHO Classification of Tumours Editorial Board, eds. Urinary and male genital tumors. 5th ed. World Health Organization; 2022. WHO Classification of Tumours. Vol 8
2. Strom SP. Current practices and guidelines for clinical next-generation sequencing oncology testing. Cancer Biol Med. 2016;13(1):3-11. doi:10.28092/j.issn.2095-3941.2016.0004
3. Spurr L, Li M, Alomran N, et al. Systematic pan-cancer analysis of somatic allele frequency. Sci Rep. 2018;8(1):7735. Published 2018 May 16. doi:10.1038/s41598-018-25462-0
4. Trpkov K, Hes O, Williamson SR, et al. New developments in existing WHO entities and evolving molecular concepts: The Genitourinary Pathology Society (GUPS) update on renal neoplasia. Mod Pathol. 2021;34(7):1392-1424
5. Fuchs TL, Maclean F, Turchini J, et al. Expanding the clinicopathological spectrum of succinate dehydrogenase-deficient renal cell carcinoma with a focus on variant morphologies: a study of 62 new tumors in 59 patients. Mod Pathol. 2022;35(6):836-849
6. Gupta S, Swanson AA, Chen YB, et al. Incidence of succinate dehydrogenase and fumarate hydratase-deficient renal cell carcinoma based on immunohistochemical screening with SDHA/SDHB and FH/2SC. Hum Pathol. 2019;91:114-122
7. Carlo MI, Hakimi AA, Stewart GD, et al. Familial kidney cancer: Implications of new syndromes and molecular insights. Eur Urol. 2019;76(6):754-764
8. Gupta S, Erickson LA. Back to biochemistry: Evaluation for and prognostic significance of SDH mutations in paragangliomas and pheochromocytomas. Surg Pathol Clin. 2023;16(1):119-129
Day(s) Performed
Monday through Friday
Report Available
12 to 20 daysTest Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.CPT Code Information
88381-Microdissection, manual
81404
81405 x2
81406
81479 (if appropriate for government payers)
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| SDHMP | SDH Genes Mutation Analysis, Tumor | 105598-7 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 619713 | Result | 82939-0 |
| 619714 | Interpretation | 69047-9 |
| 619715 | Additional Information | 48767-8 |
| 619716 | Specimen | 31208-2 |
| 619717 | Tissue ID | 80398-1 |
| 619718 | Method | 85069-3 |
| 619719 | Disclaimer | 62364-5 |
| 619720 | Released By | 18771-6 |
Forms
If not ordering electronically, complete, print, and send an Oncology Test Request (T729) with the specimen.
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