Carrier Cytogenetics Fluorescence in situ hybridization (FISH) Germline Testing Immunohistochemistry (IHC) Karyotype Liquid Biopsy Multi-Gene Panel Testing Next-Generation Sequencing (NGS) Polygenic Risk Score Sanger Sequencing Somatic Testing Somatic and Germline Paired Testing Variant Allele Frequency (VAF) Whole Exome Sequencing Whole Genomic Sequencing
De Novo Variant Deletion Duplication Frameshift Insertion Large Genomic Rearrangements Microsatellite Instability (MSI) Missense Nonsense Point Variant Polymorphism Single Nucleotide Polymorphism (SNP) Single Nucleotide Variant Substitution
Subcategory: Chromosomal Rearrangement Inversion Deletion Duplication Numerical Translocation
Germline Variant Classification Deleterious Pathogenic Variant Likely Pathogenic Variant Variant of Uncertain Significance Likely Benign Variant Benign Variant
Somatic Variants Somatic Driver Variants Passenger Variants Copy Number Variation
Somatic Variant Classification (based on actionability) Tier I Tier II Tier III Tier IV
Anticipatable Unanticipatable Secondary Finding Discovery Finding
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