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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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