Risk Assessment

Predictive risk information for patient and/or family members

Individuals undergoing evaluation for a personal or family history of chronic kidney disease.

Is research allowed on the sample after clinical testing is complete? Help
Research testing is only performed under IRB approved protocol with an opt-out policy in place.

Genomic DNA is extracted from whole blood. Genotyping for each allele is performed using a PCR-based 5'-nuclease assay. Fluorescently labeled detection probes anneal to the target DNA. PCR is used to amplify the section of DNA that contains the variant. If the detection probe is an exact match to the … Genomic DNA is extracted from whole blood. Genotyping for each allele is performed using a PCR-based 5'-nuclease assay. Fluorescently labeled detection probes anneal to the target DNA. PCR is used to amplify the section of DNA that contains the variant. If the detection probe is an exact match to the target DNA, the 5'-nuclease polymerase degrades the probe, the reporter dye is released from the effects of the quencher dye, and a fluorescent signal is detected. View more

Other

Tests performed
Entire test performed in-house

Accuracy and analytical sensitivity for targeted simple variant(s) (SNVs and INDELs): (>99%).

This assay will not detect all variants associated with an increased risk for development or progression of a chronic kidney disease. Therefore, the absence of an APOL1 risk genotype does not rule out the possibility that an individual is at an increased risk for development or progression of a chronic … This assay will not detect all variants associated with an increased risk for development or progression of a chronic kidney disease. Therefore, the absence of an APOL1 risk genotype does not rule out the possibility that an individual is at an increased risk for development or progression of a chronic kidney disease. This assay cannot predict or rule out the development or progression of a chronic kidney disease in an individual. Currently, there is insufficient evidence that the results of this assay alone should be used to determine eligibility to donate or receive a kidney allograft. Test results should be interpreted in the context of clinical findings, family history, and other laboratory data. Errors in our interpretation of results may occur if information given is inaccurate or incomplete. Rare polymorphisms may be present that could lead to false-negative or false-positive results. This assay does not identify less common apolipoprotein L1 alleles. Thus, an individual who appears to be homozygous for G1 or G2 may carry a rare allele that cannot be detected by this assay. If results obtained do not match the clinical findings, additional testing should be considered. In rare cases, DNA variants of undetermined significance may be identified. Samples may contain donor DNA if obtained from patients who received heterologous blood transfusions or allogeneic hematopoietic stem cell transplantation. Results from samples obtained under these circumstances may not accurately reflect the recipient's genotype. For individuals who have received blood transfusions, the genotype usually reverts to that of the recipient within 6 weeks. For individuals who have received allogeneic hematopoietic stem cell transplantation, a pretransplant DNA specimen is recommended for testing. View more

Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP