From saliva to data
What actually happens after you send in a DNA sample.
The workflow differs by test type, but the important distinction is simple: genotyping checks selected positions; sequencing reads DNA fragments and reconstructs much more of the genome.
Collect the sample
Most consumer kits use saliva or a cheek swab. Sample quality matters because the lab still needs enough usable DNA to process.
Generate the data
Microarrays genotype selected known sites. WGS platforms generate millions of short sequence reads across the genome.
Align and call variants
Sequencing reads are mapped to a reference genome. Software identifies positions where your sequence differs from that reference and records variants.
Annotate and report
Providers connect variants to curated databases and their own interpretation pipelines. This is where two services can present different conclusions from similar underlying data.
Download your files
Depending on the provider, you may receive raw reads (FASTQ), aligned reads (BAM/CRAM), called variants (VCF), or a simpler genotype TXT/CSV.
Re-analyze later
Genetics knowledge changes. Keeping useful raw data can let you revisit it with newer tools, but a new interpretation is not automatically a new clinical diagnosis.