Genomic Unity® Renal Disorders Analysis
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.
- 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.
- Reflex to Genomic Unity® Exome Analysis, Genomic Unity® Exome Plus Analysis or Genomic Unity® Whole Genome Analysis
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A report will be issued within 4 weeks from receipt of required samples.