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Test Code APOL1B APOL1 Genotyping Assay by Next-Generation Sequencing (NGS), Peripheral Blood

Specimen Type

Peripheral Blood

Container

Lavender Top (EDTA)

Preferred Volume

5mL

Mimimum Volume

200uL

Offsite Collection Instructions

Peripheral Blood samples collected in EDTA (lavender top) and labeled with at least two patient identifiers can be transported at ambient temperature to UCM Lab Services Center. Specimens collected in anticoagulant other than EDTA, severely hemolyzed, frozen or clotted will not be accepted.

 

 

UCMC Collection Instructions

Peripheral Blood samples collected in EDTA (lavender top), and labeled with at least two patient identifiers, can be stored at room temperature or in refrigerator. Samples should be sent no later than 48 hours from the time of collection to UCM Lab Services Center at ambient temperature. Specimens collected in anticoagulant other than EDTA, severely hemolyzed, frozen or clotted will not be accepted.

Availability

Monday – Friday, 8:00am – 5:00pm

Turnaround Time

6-12 business days upon receipt of adequate specimen

STAT Availability

Not Available

Test Usage

This is a next-generation sequencing assay for the qualitative detection of two APOL1 nephropathy risk alleles (G1 and G2) in peripheral blood. This test is indicated for African-Americans with a clinical risk or family history of kidney disease and African-Americans being evaluated as living kidney donor. Results from this test are intended for use as an adjunct to existing clinical information.

 

 

 

Test Methodology

The test procedure involves DNA extraction and quantity/quality assessment, PCR amplification of a portion of the APOL1 exon 6 that contains the G1 and G2 nephropathy risk variants, library preparation, and pooling of patient libraries. Next-generation sequencing (NGS) is performed on the MiSeq system (Illumina) and downstream analysis for quality control and detection of mutations is performed via custom-design bioinformatics pipelines on a HIPAA-compliant high performance computing system within the Center for Research Informatics (CRI). APOL1 variants are interpreted within the context of the reference transcript NM_003661.3.

CPT Code

81479

Critical Results

None

Reference Range

An interpretive report will be provided.

Test Limitations

  • Only the APOL1 nephropathy risk variants (G1 and G2) will be reported, if present.
  • Other APOL1 variants may be detected, but will not be reported.
  • This test will not detect variants in areas outside the targeted genomic region (hg19 coordinates chr22: 36649117-36663577).
  • Copy number alterations, translocations, and variants in other coding exons or non-coding regions that could affect gene expression will not be detected.