INDIVIDUAL TEST 294
ApoE4 Genotyping
Indication
Suspicion of Alzheimer’s Disease
Sample material
EDTA whole blood
- Minim. volume: 3 mL
Transport
- Within Sweden: room temperature
- International: room temperature
Method
NAA (Nucleic Acid Amplification), Sanger sequensing
Please note that the request must be completed with a signed informed consent form.
Reference interval
Negative – No copies of the gene
Result
Results are reported as negative, heterozygote, or homozygote.
Interpretation
The apolipoprotein E (ApoE) is a ligand of the LDL receptor and plays an important role in the regulation of cholesterol and triglyceride homeostasis. There are three gene variants of ApoE (2, 3, and 4).
The ApoE4 gene is associated with an increased risk for developing the non-familial late-onset form of Alzheimer's disease. Compared to the normal population, heterozygous ApoE4 carriers have a 4-fold increased risk and homozygous ApoE4 carriers about 10-fold increased risk of developing Alzheimer's disease.
References
- Hales CM. Med Clin North Am. 2025. Alzheimer's Disease Diagnosis and Management in the Age of Amyloid Monoclonal Antibodies. PMID: 39893023
- Raulin AC et al. Mol Neurodegener. 2022. ApoE in Alzheimer's disease: pathophysiology and therapeutic strategies. PMID: 36348357
Last updated: 2025-12-05
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ENSKILD ANALYS 294
ApoE4 Genotypning
Indikation
Misstanke om Alzheimers sjukdom
Provmaterial
EDTA-helblod
- Minim. volym: 3 mL
Transport
- Inom Sverige: rumstemperatur
- Internationellt: rumstemperatur
Metod
NAA (Nucleic Acid Amplification), Sanger sekvensering
Vänligen observera att analysen kräver signerad samtyckesblankett.
Referensintervall
Negativt ingen kopia av genen
Resultat
Resultat anges som negativt, heterozygot eller homozygot.
Tolkning
Apolipoprotein E (ApoE) är ligand för LDL receptor och har en viktig roll för reglering av kolesterol- och triglyceridnivåer. Det finns tre genvarianter av ApoE (2, 3 och 4). Heterozygot ApoE4 är associerat med ca 4 gånger ökad risk för att utveckla late-onset icke familjär Alzheimers sjukdom medan Homozygot bärare ökar risken 10 gånger jämfört med normal populationen.
Referenser
- Hales CM. Med Clin North Am. 2025. Alzheimer's Disease Diagnosis and Management in the Age of Amyloid Monoclonal Antibodies. PMID: 39893023
- Raulin AC et al. Mol Neurodegener. 2022. ApoE in Alzheimer's disease: pathophysiology and therapeutic strategies. PMID: 36348357
Senast uppdaterat: 2025-12-05