APOL1 Genotype, Varies
Use
This test is intended to determine an individual's APOL1 genotype, specifically the G1 and G2 alleles, which are associated with an increased lifetime risk of chronic kidney diseases when two risk alleles are present. It is not useful for clinical management nor for determining eligibility for kidney allografts on its own; results must be interpreted in the context of clinical findings, family history, and other data. The assay cannot detect all variants, and may miss rare alleles, so interpretation should consider potential false negatives or positives. In certain scenarios, such as after blood transfusion or hematopoietic stem cell transplantation, donor DNA may interfere with results, and additional testing or a pretransplant DNA specimen may be needed.
Special Instructions
Not provided.
Limitations
This assay does not detect all APOL1 variants; rare alleles may lead to false‑negative or false‑positive results. It cannot determine phasing of alleles (cis/trans). Absence of risk genotype does not rule out risk of chronic kidney disease. Donor DNA (e.g., from blood transfusion or hematopoietic stem cell transplant recipients) may alter results; maternal contamination studies recommended for cord blood testing. Results should not alone determine eligibility for donation or transplant and must be considered with clinical context.
Methodology
PCR-based (PCR)
Biomarkers
APOL1
Gene
LOINC Codes
- 104664-8 - APOL1 Geno Bld/T/S
- 104664-8 - APOL1 Geno Bld/T/S
- 69047-9 - Geneticist review
- 48767-8 - Annotation comment Imp
- 85069-3 - Lab test method
- 62364-5 - Test performance info Spec
- 18771-6 - Provider signing name
Result Turnaround Time
3-8 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
0.4 mL
Container
Lavender top (EDTA) or yellow top (ACD)
Collection Instructions
Invert several times to mix blood; send whole blood specimen in original tube without aliquoting.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 4 days |
| Refrigerated | 4 days |
| Frozen | 4 days |
