Carrier conditions, read honestly
Each page covers one recessive condition: what it is, how carrier status is inherited, and, most importantly, what a file you already own can and cannot establish about it. We never issue carrier status from a genotyping chip: where an array happens to type one position, that is not a rule-out of the rest of the gene. So these pages say plainly where the answer needs sequencing and where it needs a clinical test instead. For everything Aimosti examines, see what we analyse.
- Cystic fibrosis carrier: What CFTR carrier status means, why a 23andMe or AncestryDNA chip file cannot answer the question, and what a whole-genome VCF can and cannot rule out.
- Sickle cell & β-thalassemia carrier: What an HBB carrier result means, why a genotyping chip typing one sickle position is not a rule-out, and which thalassemia a whole-genome VCF can and cannot speak to.
These pages are educational and are not medical advice. A re-analysis of a file you already own is not a substitute for clinical carrier screening.