Familial hypercholesterolemia

Not a medical test — for research and educational use only

Yeliztli analyses consumer genotyping-array data (23andMe / AncestryDNA), which is not a clinical-grade test. Results are not diagnostic, are not clinically validated, and must not be used to make medical decisions. Array data is especially unreliable for rare, disease-causing variants. Always confirm any finding with an accredited clinical laboratory and discuss it with a qualified clinician or genetic counsellor before acting on it. See the Intended use & disclaimers page for the details and the evidence behind this warning.

This view focuses on familial hypercholesterolemia (FH) — an inherited tendency toward very high LDL cholesterol — by combining three lines of evidence. It is framed against the clinical FH criteria (Dutch Lipid Clinic Network, Simon Broome) for educational reference only, and is not a clinical FH diagnosis.

What it looks at

1. Monogenic FH variants in LDLR, APOB, and PCSK9 (read from the cardiovascular module's findings).
2. APOB R3527Q (rs5742904), the familial-defective-apoB variant, if it's typed and you carry it.
3. An LDL-C polygenic score (PGS000688) summarising many small-effect variants.

What you'll see

A three-part assessment: any monogenic FH variants you carry, your APOB R3527Q status, and your LDL-C polygenic burden. The polygenic part shows a raw score and how much of it your array actually covers.

It does not measure your cholesterol

This module reads genetics only — it does not measure your LDL-C or check for clinical signs of FH. The polygenic percentile is withheld when it can't be calibrated on un-imputed array data.

Good to know

• It doesn't detect FH variants on its own — it summarises the cardiovascular module's findings plus the single APOB variant and the polygenic score.
• High LDL cholesterol has many causes; genetics is only one. Discuss any concern, and your actual lipid panel, with a clinician.