Test catalog
APOE gene sequencing
Exome-based analysis of the APOE gene, determining the genotype formed by the ε2, ε3 and ε4 alleles and the relative risk of Alzheimer disease.
- Accepted samples
- Peripheral blood (preferred), Buccal swab, Extracted DNA
- Turnaround time and when it starts
- 20 calendar days, after order confirmation
- Medical order
- Required. View requirements and limitations.
Test information
Technical details for APOE gene sequencing
Method, scope, requirements and limitations
Exome-based analysis of the APOE gene, determining the genotype formed by the ε2, ε3 and ε4 alleles and the relative risk of Alzheimer disease.
- Applications
- Personalized prevention
- Accepted samples
- Peripheral blood (preferred), Buccal swab, Extracted DNA
- Estimated turnaround time
- 20 calendar days, after order confirmation
- Methodology
- Next-generation sequencing (NGS) of the exome on the MGI platform, with analysis targeted to the requested gene. Variant classification follows ACMG criteria and ClinGen updates.
- Analytical scope
- Evaluable coding regions and splice boundaries of the analyzed gene, with exome coverage: single nucleotide variants (SNVs), small deletions and duplications of up to 20 bp, and CNVs spanning three or more exons.
- Genes analyzed
-
1 genes analyzed.
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APOE
- Medical order
- Required
Requirements
A medical order and sufficient clinical information to guide the analysis.
Limitations
The result depends on sample quality, achieved coverage and the method’s limitations. Variants larger than 20 bp and smaller than one exon may be detected with reduced sensitivity, and CNVs of one or two exons are outside the scope. It does not primarily target deep intronic, promoter or regulatory regions. Repeats, rearrangements, methylation, high homology, and low coverage may require another method.
Additional information
The result should not be interpreted in isolation and does not replace clinical assessment. Interpretation should take clinical information and, when indicated, genetic counseling into account.
