Genomic Unity® Nephrology Disorders Analysis
Use
Genomic Unity® Nephrology Disorders Analysis is a diagnostic test designed to identify genetic variants causing nephrology disorders. It uses a whole genome platform to detect all major clinically relevant variant types from a single sample, focusing on over 420 genes associated with inherited nephrology disorders. It provides a unified clinical report to replace multiple tests like targeted gene panel, single gene analysis, multiplex ligation dependent probe amplification (MLPA), PCR, and southern blot tests for short tandem repeat expansions.
Special Instructions
Not provided.
Limitations
The test does not fully cover the genes C4A, COL4A6, HOXA13, INF2, KL, LRP5, MAGI2, MUC1, and NXF5, hence may not detect all pathogenic variants. Regions in the genes C4A, MUC1, and TNXB are non-unique, affecting variant localization and interpretation. Repeat expansions are not reported in HOXA13.
Methodology
NGS (Whole Genome Sequencing)
Biomarkers
Result Turnaround Time
4 weeks
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
5ml
Minimum Volume
Not provided
Collection Instructions
Refer to specimen requirements for detailed instructions.