C18302Level 6

Genetic Variation Analysis

**Semantic type:** Laboratory Procedure

**Definition:** The identification of genetic variation in a biological sample.

**Synonyms:** - Mutation Analysis - Mutation Analysis - mutation analysis

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C146692BRCA Mutation Analysis

C157167BAP1 Mutation Analysis

C157172BRAF Mutation Analysis

C157176CDH1 Mutation Analysis

C157177CTNNB1 Mutation Analysis

C157178ERBB2 Mutation Analysis

C157179FGFR1 Mutation Analysis

C157180FGFR2 Mutation Analysis

C157181FGFR3 Mutation Analysis

C157182GNA11 Mutation Analysis

C157183GNAQ Mutation Analysis

C157184HRAS Mutation Analysis

C157185IDH1/IDH2 Mutation Analysis

C157187NRAS Mutation Analysis

C157237TERT Promoter Mutation Analysis

C157351PALB2 Mutation Analysis

C158852ATRX Mutation Analysis

C158872EGFR Mutation Analysis

C158902KIT Mutation Analysis

C158917MET Mutation Analysis

C158922NF1 Mutation Analysis

C158944PDGFRA Mutation Analysis

C158946PTEN Mutation Analysis

C158955SDH Complex Mutation Analysis

C158957TP53 Mutation Analysis

C173545Allele Ratio Measurement

C181331Single Nucleotide Variation Assessment

C181334Short Variation Assessment

C181335Tumor Mutation Burden Assessment

C18890Mutation Detection

C189440Variable Number Tandem Repeats Assessment

C189441Variant Profile Assessment

C191742Allelic Editing Frequency Measurement

C191744Homology-Directed DNA Repair Frequency Measurement

C191745Indel Mutation Frequency Measurement

C202592Shifted Termination Assay

C63330Loss of Heterozygosity Analysis

C79418KRAS Mutation Analysis

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