Genomic Unity® Renal Disorders Analysis

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Test Description

Test Code – UO001

Inherited renal disorders are one of the leading causes of early-onset chronic renal disease (CKD) and are responsible for 10–15% of adult cases of renal failure. The main clinical diagnostic groups of early-onset CKD include congenital anomalies of the renal and urinary tract (CAKUT) (50% of cases), glomerulopathies (20% of cases), cystic renal diseases (6–10% of cases) and tubulopathies (2% of cases)1. Precise clinical diagnosis is challenging due to genetic heterogeneity and pleiotropy. Known genetic etiologies include: copy number variants as well as monogenic changes ranging from single nucleotide variants to indels2. The impact of a genetic diagnosis for renal disease patients and family members can lead to changes in clinical management including therapeutic and prognostic aspects, avoid invasive diagnostic procedures (such as renal biopsy), inform about presymptomatic testing, screening options and family planning.

Genomic Unity® Renal Disorders Analysis uses a whole genome sequencing platform to diagnose genetic causes of renal disease in 426 genes. 

When to order

Order this test when a person presents with clinical symptoms of renal disease. You also have the option to reflex up to Genomic Unity® Exome Analysis, Genomic Unity® Exome Plus Analysis or Genomic Unity® Whole Genome Analysis if targeted analysis is non-diagnostic.

Included Analyses

  • Sequence analysis of inherited renal disorder-associated genes (single nucleotide variants, deletions, insertions, and characterized intronic variants).
  • Copy number variant analysis of renal disorder-associated genes (duplications/deletions, mobile element insertions, and inversions).
  • Short tandem repeat (STR) analysis of the ATXN10 gene. (Learn more)

Optionally includes:

Included Genes

AllABCDEFGHIJKLMNOPQRSTUVWXYZ

Note: The false negative rate for repeat expansions has not been determined for ATXN10. Short tandem repeats are not reported in the HOXA13 gene.

Test Performance

 >  %
Sensitivity for SNVs
 >  %
Specificity for SNVs
 >  %
Positive predictive value for SNVs
 %
Clinical sensitivity for structural variants
 %
Clinical sensitivity for STRs

CPT Codes

81443

The CPT codes provided are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Accepted Specimens

Blood

5ml

Saliva

2ml

gDNA

5μg

Turnaround Time

A report will be issued within 4 weeks from receipt of required samples.

Contact Us

Please contact customer service to request a kit.

Learn More