Histone Genes Mutation Analysis, Next-Generation Sequencing, Tumor
Use
This test is useful for identifying specific mutations within the H3-3A, H3-3B, H3C2, H3C3, and H3C14 genes, which are critical for tumor diagnosis and classification. It provides crucial information in assessing somatic mutations in solid tumor samples, facilitating diagnostic, prognostic, and therapeutic decisions, particularly in central nervous system tumors and bone/soft tissue tumors.
Special Instructions
Not provided.
Limitations
This test does not differentiate between somatic and germline alterations, and additional testing may be necessary to clarify results that suggest hereditary risk. Results below the limits of detection, larger-scale genomic copy number variants, and epigenetic modifications may not be identified. Diagnostic interpretation requires context from clinical and laboratory data, and improper specimen handling could impact test performance.
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 104062-5 - HISGT Histone genes Mut Anl Tumor
- 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
Not provided
Collection Instructions
Submit a formalin-fixed, paraffin-embedded tissue block with acceptable amount of tumor tissue.
