BRAF and KIT Mutation Analysis, Next-Generation Sequencing, Tumor
Use
This test is useful for identifying specific mutations within the BRAF and KIT genes that predict response to targeted therapies in patients with melanoma. It helps in determining candidates who may benefit from therapies directed at pathways involving KIT and BRAF, which have shown success in improving progression-free and overall survival.
Special Instructions
Not provided.
Limitations
This test cannot differentiate between somatic and germline alterations in the BRAF and KIT genes. It may not detect multi-exon deletions, duplications, larger scale genomic copy number variants, or epigenetic modifications. The analytical sensitivity requires at least 5% mutant allele frequency with a minimum of 500x coverage for detection.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
BRAF, KIT
Gene
LOINC Codes
- 36908-2 - Gene Mut Tested Bld/T
- 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 mm2
Container
Formalin-fixed, paraffin-embedded tissue block
Collection Instructions
Submit a formalin-fixed, paraffin-embedded tissue block with adequate tumor tissue.