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APOL1 Genotyping Panel A (2 Mutations)
Clinical Genetic Test
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offered by
Laboratory for Molecular Medicine
View lab's test page
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GTR Test Accession: Help GTR000509089.10
NYS CLEP
INHERITED DISEASEINHERITED DISEASE SUSCEPTIBILITY
Last updated in GTR: 2023-12-01
View version history
Last annual review date for the lab: 2024-12-04 LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (1): Help
Focal segmental glomerulosclerosis 4, susceptibility to
Genes (1): Help
APOL1 (22q12.3)
Methods (1): Help
Molecular Genetics - Sequence analysis of select exons: Bi-directional Sanger Sequence Analysis
Target population: Help
Individuals with Kidney disease
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Laboratory for Molecular Medicine
View lab's website
View lab's test page
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Physician Assistant
  • Registered Nurse
Test Order Code: Help
lmAPOL1-Av2_L
View other test codes
Lab contact: Help
Clinical Testing Assistant, , Laboratory Contact
[email protected]
617-768-8500
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
How to Order: Help
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Yes
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
No
Recommended fields not provided:
Test strategy
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Sequence analysis of select exons
Bi-directional Sanger Sequence Analysis
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Target population: Help
Individuals with Kidney disease
View citations (5)
  • Genovese G, Friedman DJ, Ross MD, Lecordier L, Uzureau P, Freedman BI, Bowden DW, Langefeld CD, Oleksyk TK, Uscinski Knob AL, Bernhardy AJ, Hicks PJ, Nelson GW, Vanhollebeke B, Winkler CA, Kopp JB, Pays E, Pollak MR. Association of trypanolytic ApoL1 variants with kidney disease in African Americans. Science. 2010;329(5993):841-5. doi:10.1126/science.1193032. Epub 2010 Jul 15. PMID: 20647424.
  • Freedman BI, Kopp JB, Langefeld CD, Genovese G, Friedman DJ, Nelson GW, Winkler CA, Bowden DW, Pollak MR. The apolipoprotein L1 (APOL1) gene and nondiabetic nephropathy in African Americans. J Am Soc Nephrol. 2010;21(9):1422-6. doi:10.1681/ASN.2010070730. Epub 2010 Aug 05. PMID: 20688934.
  • Rudolf Virchow and the durability of cellular pathology. Malkin HM, et al. Perspect Biol Med. 1990;33(3):431-43. doi:10.1353/pbm.1990.0005. PMID: 2188214.
  • Ashley-Koch AE, Okocha EC, Garrett ME, Soldano K, De Castro LM, Jonassaint JC, Orringer EP, Eckman JR, Telen MJ. MYH9 and APOL1 are both associated with sickle cell disease nephropathy. Br J Haematol. 2011;155(3):386-94. doi:10.1111/j.1365-2141.2011.08832.x. Epub 2011 Sep 13. PMID: 21910715.
  • 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):2098-105. doi:10.1681/ASN.2011050519. Epub 2011 Oct 13. PMID: 21997396.
Variant Interpretation:
Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
Yes. *Please call. Offered on a case-by-case basis.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
No. Ordering provider is encouraged to periodically contact the lab to see if there is any new information available. However, if the ordering physician has GeneInsight Clinic, they may receive automatic updates on classification through that program.
Research:
Is research allowed on the sample after clinical testing is complete? Help
No
Recommended fields not provided:
Clinical validity, Clinical utility, What is the protocol for interpreting a variation as a VUS?, Sample negative report, Sample positive report
Technical Information
Test Procedure: Help
This test is performed by Sanger sequencing of exon 6 of APOL1.
Test Confirmation: Help
All clinically significant variants are confirmed by Sanger sequencing or an alternate assay.
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
This assay has greater than 99.9% accuracy to detect mutations in the sequence analyzed.
View citations (1)
Assay limitations: Help
This test does not detect large deletions or variants in other coding exons or non-coding regions that could affect gene expression.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Intra-Laboratory
VUS:
Software used to interpret novel variations Help
Alamut, UCSC Genome Browser, gnomAD, ExAC, ESP, 1000 Genomes, PolyPhen, SIFT, AlignGVGD, and more.
Recommended fields not provided:
Citations to support assay limitations, Description of internal test validation method, PT Provider, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
NYS CLEP Approval: Help
Number: 87060
Status: Approved
Additional Information

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.