SDH Genes Mutation Analysis, Next-Generation Sequencing, Tumor
Use
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. The test is performed to evaluate for somatic mutations within solid tumor samples and does not assess for germline alterations within the genes listed. It is diagnostically significant for documenting an underlying disease-causing alteration of the SDH genes, which have been implicated in multiple tumor types.
Special Instructions
Not provided.
Limitations
The test cannot differentiate between somatic mutations and germline alterations. It may not identify epigenetic changes such as SDHC promoter hypermethylation. A negative finding does not fully rule out the presence of a variant below the limits of detection. Multi-exon deletions, duplications, epigenetic alterations, or genomic copy number variants are not detected by this assay.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 105598-7 - SDHA & SDHB & SDHC & SDHD mut anl Tiss
- 82939-0 - Genetic variant details Bld/T
- 69047-9 - Geneticist review
- 48767-8 - Annotation comment Imp
- 31208-2 - Specimen source
- 80398-1 - Unique ID Current sample
- 85069-3 - Lab test method
- 62364-5 - Test performance info Spec
- 18771-6 - Provider signing name
Result Turnaround Time
12-20 days
Related Documents
For more information, please review the documents below
Specimen
Tissue (FFPE)
Volume
Not provided
Minimum Volume
36 mm(2)
Container
Formalin-fixed, paraffin-embedded tissue block
Collection Instructions
Submit a formalin-fixed, paraffin-embedded tissue block with acceptable amount of tumor tissue.