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Test Code APOL1 APOL1 Genotype, Varies


Specimen Required


Submit only 1 of the following specimens:

 

Specimen Type: Whole blood

Container/Tube: Lavender top (EDTA)

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send whole blood specimen in original tube. Do not aliquot.

Specimen Stability Information: Ambient (preferred) 9 days/Refrigerated 30 days

 

Specimen Type: Saliva

Patient Preparation: Patient should not eat, drink, smoke, or chew gum 30 minutes prior to collection.

Supplies: Saliva Swab Collection Kit (T786)

Specimen Volume: 1 swab

Collection Instructions: Collect and send specimen per kit instructions.

Specimen Stability Information: Ambient 30 days

 

Specimen Type: Extracted DNA

Container/Tube: 2 mL screw top tube

Specimen Volume: 100 mcL (microliters)

Collection Instructions:

1. The preferred volume is 100 mcL at a concentration of 50 ng/mcL.

2. Include concentration and volume on tube.

Specimen Stability Information: Frozen (preferred)/Ambient/Refrigerated


Forms

1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

2. If not ordering electronically, complete, print, and send a Renal Diagnostics Test Request (T830) with the specimen.

Useful For

Determining an individual’s APOL1 genotype

 

This test is not useful for clinical management of individuals with APOL1 risk genotypes.

 

This test alone is not useful for determining eligibility for donation or receipt of kidney allografts.(12)

Method Name

Real-Time Polymerase Chain Reaction (PCR) with Allelic Discrimination Analysis

Reporting Name

APOL1 Genotype, V

Specimen Type

Varies

Specimen Minimum Volume

Blood: 0.4 mL
Saliva/DNA: See Specimen Required

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Varies

Reference Values

An interpretive report will be provided. 

Interpretation

An interpretive report will be provided.

Clinical Reference

1. Genovese G, Friedman DJ, Ross MD, et al: Association of trypanolytic ApoL1 variants with kidney disease in African Americans. Science. 2010;329(5993):841-845. doi: 10.1126/science.1193032

2. Parsa A, Kao WH, Xie D, et al: APOL1 risk variants, race, and progression of chronic kidney disease. N Engl J Med. 2013;369(23):2183-2196. doi: 10.1056/NEJMoa1310345

3. Kopp JB, Nelson GW, Sampath K, et al: APOL1 genetic variants in focal segmental glomerulosclerosis and HIV-associated nephropathy. J Am Soc Nephrol. 2011;22(11):2129-2137. doi: 10.1681/ASN.2011040388

4. Larsen CP, Beggs ML, Saeed M, Walker PD: Apolipoprotein L1 risk variants associate with systemic lupus erythematosus-associated collapsing glomerulopathy. J Am Soc Nephrol. 2013;24(5):722-725. doi: 10.1681/ASN.2012121180

5. Friedman DJ, Kozlitina J, Genovese G, Jog P, Pollak MR: Population-based risk assessment of APOL1 on renal disease. J Am Soc Nephrol. 2011;22(11):2098-2105. doi: 10.1681/ASN.2011050519

6. Duran CE, Ramírez A, Posada JG, et al: Prevalence of APOL1 risk variants in afro-descendant patients with chronic kidney disease in a Latin American Country. Int J Nephrol. 2019 Dec 18;2019:7076326. doi: 10.1155/2019/7076326

7. Reeves-Daniel AM, DePalma JA, Bleyer AJ, et al: The APOL1 gene and allograft survival after kidney transplantation. Am J Transplant. 2011;11(5):1025-1030. doi: 10.1111/j.1600-6143.2011.03513.x

8. Freedman BI, Julian BA, Pastan SO, et al: Apolipoprotein L1 gene variants in deceased organ donors are associated with renal allograft failure. Am J Transplant. 2015;15(6):1615-1622. doi: 10.1111/ajt.13223

9. Doshi MD, Ortigosa-Goggins M, Garg AX, et al: APOL1 genotype and renal function of black living donors. J Am Soc Nephrol. 2018;29(4):1309-1316. doi: 10.1681/ASN.2017060658

10. Lee BT, Kumar V, Williams TA, et al: The APOL1 genotype of African American kidney transplant recipients does not impact 5-year allograft survival. Am J Transplant. 2012;12(7):1924-1928. doi: 10.1111/j.1600-6143.2012.04033.x

11. Freedman BI, Moxey-Mims MM, Alexander AA, et al: APOL1 long-term kidney transplantation outcomes network (APOLLO): Design and rationale. Kidney Int Rep. 2019;5(3):278-288. doi: 10.1016/j.ekir.2019.11.022

12. Newell KA, Formica RN, Gill JS, et al: Integrating APOL1 gene variants into renal transplantation: Considerations arising from the American Society of Transplantation Expert Conference. Am J Transplant. 2017;17(4):901-911. doi: 10.1111/ajt.14173

Day(s) Performed

Monday through Friday

Report Available

3 to 8 days

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information

81479

LOINC Code Information

Test ID Test Order Name Order LOINC Value
APOL1 APOL1 Genotype, V 104664-8

 

Result ID Test Result Name Result LOINC Value
610559 APOL1 Result 104664-8
610561 Interpretation 69047-9
610562 Additional Information 48767-8
610563 Method 85069-3
610564 Disclaimer 62364-5
610565 Reviewed by 18771-6