CoGenesis® Renal & urinary tract
NGS virtual panel covering 378 genes across 10 disease panels (Renal and urinary tract disorders)
CoGenesis® Renal & urinary tract is a next-generation sequencing virtual panel of 378 genes spanning 10 disease groups, including autosomal dominant and recessive polycystic kidney disease, Alport syndrome, steroid-resistant nephrotic syndrome, nephronophthisis and related ciliopathies, congenital anomalies of the kidney and urinary tract (CAKUT), and hereditary tubulopathies. It supports differential diagnosis in early-onset or familial kidney disease and clarifies cases where clinical, histological, and imaging findings are inconclusive. A molecular diagnosis informs transplantation planning, family screening, and selection of disease-modifying therapy such as tolvaptan for rapidly progressing ADPKD.
- Establishing a molecular diagnosis in early-onset, familial, or phenotypically ambiguous kidney disease.
- Differentiating inherited nephropathies with overlapping presentations (e.g., Alport syndrome, thin basement membrane disease, genetic forms of IgA nephropathy).
- Guiding therapy selection, living-donor evaluation, and transplantation planning.
- Enabling cascade testing and reproductive counselling for at-risk family members.
- Diagnosing acquired kidney injury from ischaemia, drug toxicity, infection, or immune-mediated disease.
- Detecting large structural rearrangements, deep intronic variants, or mosaic variants outside the intended variant types.
- Replacing renal biopsy, imaging, or biochemical evaluation.
- Serving as a stand-alone diagnostic tool without clinical correlation.
10 sub-panels included:
| Step / Test | Accuracy | Notes |
|---|---|---|
| Variant calling – SNP | >99.9% | |
| Variant calling – Indel | >99% |
4mL Peripheral blood (EDTA), 2mL saliva, or buccal swab
Preferred sample type:
- 4mL Blood (EDTA tube),
- Codex-provided buccal swabs (4 swabs)
- Codex-provided saliva collection kit (2mL)
Saliva or buccal swab sample collection: Follow the enclosed instructions; do not eat, drink, or smoke for 30 minutes before collection.
- Insufficient DNA quantity or poor DNA quality
- Improperly labeled or contaminated samples
- Degraded specimens due to incorrect storage or transport
- Non-human samples or inappropriate specimen types
Samples must be collected and submitted by a licensed healthcare professional.
- Keep Blood samples at 4–8°C after collection; avoid freezing, deliver within 48 hours of collection.
- Saliva or buccal swabs are stability in room temperature for up to 7 days. Address: Unit 220, 2/F, Building 16W, HKSTP, Pak Shek Kok, NT, Hong Kong. Tel: +852 3008 2560
- Results may identify pathogenic, likely pathogenic, or variants of uncertain significance (VUS).
- Positive findings can inform risk‑reducing strategies and treatment options.
- Genetic counseling is recommended to help families understand implications.
An estimated 10-20% of adults with chronic kidney disease, and a higher proportion of paediatric cases, have a monogenic cause, yet many remain undiagnosed by phenotype alone because clinical and histological features overlap across dozens of conditions. More than 300 genes have been implicated in inherited kidney disease, spanning ADPKD, ARPKD, Alport syndrome, steroid-resistant nephrotic syndrome, nephronophthisis-related ciliopathies, tubulopathies, and CAKUT. Genetic diagnosis reclassifies disease in a clinically meaningful proportion of adult CKD cohorts, influences immunosuppression choice in nephrotic syndrome, supports safe living-donor evaluation, and enables disease-specific therapy such as tolvaptan in rapidly progressing ADPKD. Nephronophthisis and CAKUT may require complementary structural-variant testing.
Hong Kong-based molecular diagnostics laboratory specialising in clinical genomics, precision oncology, and rare disease diagnosis. Accredited to ISO 27001 and GenQA standards.
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