Bladder Cancer Testing

Ensure early detection and optimal patient care

“A recent breakthrough in diagnostics could make it easier to detect patients early”.

Read about GALEAS™ Bladder in The Telegraph

 

Informed Genomics provides a complete bladder cancer DNA testing service to help clinicians detect the disease at every step

Bladder Cancer Test Overview

See GALEAS™ Bladder components for details on genes that have been approved for clinical interpretation.

Type of service A non-invasive, sample through to report, molecular triage test for bladder cancer
Type of test DNA genetic test – panel to detect mutations within 23 bladder cancer associated genes
Sample type Non-invasive.  Urine (min. 50 ml)
Technologies used
  • DNA extraction: Bead Xtract Urine gDNA extraction kit
  • Next generation sequencing library preparation: Cell3™Target
  • Sequencing: Illumina sequencing platform
Data output Report – positive (with gene list) or negative
Ordering information Contact via the Informed Genomics contact form
Turn-around time Within 14 working days from receipt of sample to report return

Why is testing for bladder cancer important?

Around 600,000 people worldwide are diagnosed annually with bladder cancer, and over 200,000 deaths are linked to the disease, making it the 5th most common cancer type in the western world.1

However, when diagnosed early, over 90% of patients with bladder cancer will survive 5 years, compared to only 36% of those with a late diagnosis.1

When is bladder cancer testing used?

Blood in the urine (haematuria) is one of the most common signs of bladder cancer, and patients with this indication are primarily investigated by cystoscopy, which is uncomfortable, invasive, and an expensive procedure.

To overcome these challenges, the Informed Genomics bladder cancer test requires a simple, non-invasive urine sample and delivers results equivalent to that of cystoscopy for all stages of bladder cancer, including both NMIBC and MIBC.

Informed Genomics Bladder Cancer Test

Informed Genomics are proud to offer the GALEAS™ Bladder test, which is a genetic biomarker test comprised of 23 of the most relevant bladder cancer associated genes.

It leverages ultra-sensitive targeted NGS chemistry to detect somatic mutations associated with 96% of all bladder cancers and provides a simple actionable bladder cancer report.2,3

One test for ALL stages of bladder cancer, for both Non-Muscle Invasive Bladder Cancer (NMIBC) and Muscle Invasive Bladder Cancer (MIBC).

Urologist requests urine sample

Urologist requests a urine collection device for patient

Patient sends barcoded urine sample

Patient sends barcoded urine sample to service laboratory

Lab uploads sequencing results

Lab uploads sequencing results to secure cloud-based GALEAS platform

Results are analyzed report generated

Results analyzed, report generated and shared directly with urologist

Urologist shares results with patient

Urologist shares results with patient and discusses next steps

Bladder Cancer Test Components

Urine collection device

  • The GALEAS Urine Collection Device is provided as part of the service
  • It contains a simple cardboard collection device, easy to use (ensuring efficient urine collection and return rates)
  • The device flat packs reducing storage and shipping costs
  • Minimum 50 ml urine required and can be collected in the comfort of the patients home
  • The sample is returned to the lab in a 50 ml barcoded Falcon tube containing a proprietary preserver solution, stabilising urine samples for up to 28 days at room temperature (18 to 25°C)
  • All collection and postage information are provided with the device
  • The collection kit has been validated with our DNA extraction kit and NGS library preparation reagents to ensure optimal performance
  • Full traceability – the tube is barcoded

High-throughput genomic DNA extraction kit

  • A magnetic bead-based genomic DNA protocol
  • Extracts tumor-derived DNA from urinary cell-pellets
  • High throughput automated sample processing

Comprehensive gene panel

The GALEAS Bladder 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 770 clinical samples 2,3

Table 1. Gene list included in the GALEAS Bladder cancer test
AKT1 ERBB2 NRAS
BRAF ERBB3 PIK3CA
C3orf70 ERCC2 RHOB
CDKN1A FBXW7 RXRA
CDKN2A FGFR3 SF3B1
CREBBP HRAS TERT (promoter)
CTNNB1 KDM6A TP53
ELF3 KRAS

Bladder cancer test report

  • A simple, clear and concise answer, the GALEAS Bladder report is provided as part of the service and is easy to interpret
  • Simple yes/no report indicating the likely presence of bladder cancer
  • Lists the somatic variants identified
  • Created in .PDF format, or in .JSON format for report customisation, sent directly to the requesting clinician

What are the benefits of using the IGL bladder cancer test?

N

The GALEAS Bladder cancer test was developed in partnership with Nonacus and clinical researchers at the Bladder Cancer Research Centre, University of Birmingham, UK, with robust testing prior to release 2,3 Learn more

N

GALEAS Bladder cancer test is a sample-to-report service – no data analysis or specialist software required

N

Non-invasive for the patient as the test input is a simple urine sample, which can be provided from their own home

N

Covers a wide range of markers so this test can be used for patient monitoring, relapse, MRD surveillance and companion diagnostics as well as haematuria triage

N

Delivers sensitivity and specificity equivalent to cystoscopy for all bladder cancer grades including both NMIBC and MIBC

N

Delivers >90% sensitivity allowing clinicians to make informed, safe decisions to determine which patients need further investigation

N

Quality assurance – the Informed Genomics laboratory is accredited to UKAS ISO 15189:2012 ensuring high-quality performance of our bladder cancer testing service, underpinned by a strong and robust Quality Management System

hereditary testing

How are samples sequenced?

Our bladder cancer testing service is delivered through our Next Generation Sequencing (NGS) pipeline.

We use Cell3 Target enrichment technology and Illumina sequencing to generate high-quality sequencing data to a read depth of 5M per sample, using 2 × 150 bp cycling parameters.

To ensure high confidence in the results, key performance parameters have been determined through extensive validation of the Cell3 Target chemistry.

Technical performance

Performance of the GALEAS Bladder kit was assessed in a cohort of reference samples containing mutations across the spectrum of the GALEAS Bladder panel.

GALEAS Bladder shows high sensitivity, detecting over 95% of variants with a variant allele frequency (VAF) greater than 0.1%. 4

 

Figure 1: GALEAS Bladder shows high sensitivity detecting VAFs down to 0.1%

GALEAS Bladder Sensitivity

Clinical validation

GALEAS Bladder test performance was assessed on 664 urine samples from three UK clinical cohorts, showing high detection sensitivity and specificity across all stages and grades of bladder cancer. 2,3

Table 2. Sensitivity and specificity of GALEAS Bladder 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 2: GALEAS Bladder performance compared to cystoscopy and cytology across all stages of bladder cancer

GALEAS Bladder sensitivity compared to cystoscopy and cytology

References

1. Zhu CZ, Ting HN, Ng KH, Ong TA. A review on the accuracy of bladder cancer detection methods. Journal of cancer. 2019;10(17):4038.

2. 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.

3. 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.

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

Testimonials from the GALEAS Bladder test developers

“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

Our Partners

Purchase our Bladder Cancer Test from our trusted partners:

Contact us to find out more about our Bladder Cancer Testing Service

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