Bladder Cancer Panel

A research-focused service testing for urothelial bladder cancer (UBC)

Our genomic panel is comprehensively designed focusing on mutations found in 96% of bladder cancers, making it ideal for translational and clinical research into the disease as it only requires a non-invasive urine sample.

Bladder Cancer Detection for Research

 

DNA extraction

DNA extraction

Quality control

Quality control

Library preparation

Library preparation

NGS sequencing

NGS sequencing

Bioinformatics analysis

Bioinformatics analysis

Purpose
Type of test

Genomic (gDNA) and cell-free (cfDNA) DNA genetic test – panel of 23 bladder cancer genes covering 451 somatic mutations

See full gene list

Sample type
  • Urine (min. 50 ml)
  • gDNA from urinary cell pellet (25 ng)
  • cfDNA from urine (10 ng)
Flexibility Full service flexibility – contact us to find the best solution for you
Technology
  • Next generation sequencing library preparation: Cell3™ Target Bladder Cancer panel
  • Sequencing: Illumina sequencing platform
Data output Report – positive (with gene list) or negative
Indexing options
  • 384 indexing strategy
  • Unique dual indexing (UDIs) including unique molecular indexes (UMIs)
Bioinformatic analysis

Options:

  • fastp/FastQC
  • MultiQC reports
Data transfer

Secure cloud-based data transfer:

  • Secure data hosting in DNAnexus for easy retrieval via web portal or CLI
  • Hassle-free data transfer straight to your AWS (Amazon) S3 buckets
Ordering information Contact via the Informed Genomics contact form
Quality assurance UKAS accredited, and ISO15189 approved laboratories

 

How can Informed Genomics help your research into bladder cancer?

We can support your research as our service provides accessible, accurate, flexible bladder cancer testing options with the following benefits:

N

Enables easier patient recruitment for your project as a simple at home urine collection is required

N

Time saving and cost-effective solution

N

Delivers results equivalent to that of cystoscopy for all stages of bladder cancer, including both NMIBC and MIBC

N

Sensitive enough to allow multiple testing points from haematuria triage, through to minimal residual disease (MRD) and relapse surveillance

N

Offers full flexibility to suit your research requirements – send us the urine sample(s), or extract the gDNA/cfDNA in your laboratory

N

A control sample set is available if you wish to validate the workflow

N

We can help with bioinformatics or send a full report

Comprehensive gene panel information

The bladder panel targets promoter and exonic regions of 23 of the most relevant genes associated with bladder cancer.

The somatic mutations covered by the kit have been shown to detect 96% of bladder cancers in over 664 clinical samples. 1,2

 

Table 1: Gene list included in the bladder cancer panel

AKT1 ERBB2 NRAS
BRAF ERBB3 PIK3CA
C3orf70 ERCC2 RHOB
CDKN1A FBXW7 RXRA
CDKN2A FGFR3 SF3B1
CREBBP HRAS TERT (promoter)
CTNNB1 KDM6A TP53
ELF3 KRAS

Clinical validation

664 urine samples were used to assess performance of the bladder cancer panel from three UK clinical cohorts. Results show that there is high detection and specificity across all stages and grades of bladder cancer. 1,2

Table 2. Sensitivity and specificity of the bladder panel across all stages and grades of bladder cancer.

Sensitivity Specificity
pTa 86% 86%
T1 95% 86%
T2+ 89% 86%
G1 76% 86%
G2 92% 86%
G3 92% 86%
NMIBC 89% 86%
MIBC 89% 86%

 

Figure 1: Bladder panel performance compared to cystoscopy and cytology across all grades of bladder cancer.

GALEAS Bladder sensitivity compared to cystoscopy and cytology

Technical performance

A cohort of reference samples were assessed to check the technical performance of the bladder cancer panel.  Mutations across the spectrum of the panel were present in these samples and showed high sensitivity detecting over 95% of variants with a variant allele frequency (VAF) greater than 0.1%.3

Figure 2: The bladder cancer panel shows high sensitivity detecting VAFs down to 0.1%.

GALEAS Bladder Sensitivity

How was the bladder cancer test panel developed?

Prof Rik Bryan, and Dr Douglas Ward, from the Bladder Cancer Research Centre at the University of Birmingham collaborated with Nonacus to develop the Cell3 Target Bladder Cancer panel.  They succeeded in producing a sequencing panel enabling researchers to sequence the tumour DNA found in the urine of bladder cancer patients to raw read depths in excess of 20,000×.

This depth of coverage provides the sensitivity and accuracy needed to offer a viable genomic alternative to flexible cystoscopy for the profiling of bladder cancer.

Hear from Prof Rik Bryan and Dr Douglas Ward how this panel was developed:

“It has been a pleasure to work with Informed Genomics over the last year or so with the implementation of our DNA-based diagnostic urine test for bladder cancer. The staff members are very knowledgeable about all aspects of such assays, from sample preservation and transport, to processing, sequencing and the bioinformatic analyses of the data outputs. This end-to-end expertise has made the transfer of our urine test from academic lab to service lab very straightforward.”

Professor Richard Bryan

Bladder Cancer Research Centre, University of Birmingham, UK

References

1. Ward DG, Baxter L, Ott S, Gordon NS, Wang, J,Piechocki K, et al. Highly sensitive and specific detection of bladder cancer via targeted ultra-deep sequencing of urinary DNA. European urology oncology. 2023 Feb 1;6(1):67-75.

2. Ward DG, Gordon NS, Boucher RH, Pirrie SJ, Baxter L, Ott S, et al. Targeted deep sequencing of urothelial bladder cancers and associated urinary DNA: a 23‐gene panel with utility for non‐invasive diagnosis and risk stratification. BJU international. 2019 Sep;124(3):532-44.

3. Nonacus. GALEAS™ Bladder Datasheet v1. https://galeas.net/wp-content/uploads/2023/08/GALEAS-Bladder-Datasheet-v1.pdf.  Published 2023. Accessed September 14, 2023.

Contact us to find out more about our Bladder Cancer Panel

Unit 5,
Quinton Business Park
11 Ridgeway
Quinton
Birmingham
B32 1AF