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Accelerating Diagnoses and Guiding Treatment Options
An ideal biomarker plays an essential role in the early diagnosis, prediction, and therapeutic monitoring of a specific disease, reflecting the burden of the disease for the patients.
Using a biomarker either as a diagnostic tool or in regular monitoring of the disease progression can be of high clinical value for the patients. Biomarkers can be used as a measure of the therapy efficacy and even as a guide for therapy dosage.
CENTOGENE offers rapid medical diagnosis of rare hereditary diseases through the broadest genetic testing portfolio combined with biomarker and enzymatic testing as well as best-in-class interpretation.
Why Choose CENTOGENE’s Biomarkers?
The Features of CENTOGENE’s Biomarkers
- Easy to be analyzed using DBS (dried blood spots) technology
- Linked to clinical manifestation
- Quantify easily and reliably in clinical samples
- Reflect realistically the burden of the disease
- Elucidate the molecular pathogenesis of the disease
- Reflect the therapeutic measure outcomes
Testing Strategies - Fast and Accurate
In complex diseases and disease pathways, a genetic test alone typically can't provide the information needed for a final diagnosis. Therefore, CENTOGENE has pioneered the combination of different tests, like biomarker and multi-biomarker patterns with clear recommendations for testing strategies1. These testing strategies offer you and your patients a faster, more reliable, and more complete solution – providing vital and time-sensitive answers when they matter the most.
| STRATEGY | CENTOGENE PRODUCTS | |
|---|---|---|
| GENETIC PANEL + BIOMARKER / ENZYME | Testing a comprehensive range of genes (panel) first, followed by biochemical testing1 | CentoMetabolic® (~200 metabolic disorders) For more info please visit www.centogene.com/diagnostics/metabolic-testing Other panels (then reflex to relevant biomarkers upon request) |
| ENZYME / BIOMARKER + SINGLE GENE ANALYSIS | Biochemical testing combined with single gene testing | Customized solutions in pharmaceutical collaborations |
| BIOMARKER | Biomarker testing (pre or post diagnosis) | Biomarkers for eight diseases including AADC deficiency, hereditary angioedema (HAE), Fabry disease, Farber disease, Gaucher disease, Gaucher disease atypical, Niemann-Pick disease (NPD) A/B, and NPD type C More than 50 biomarkers in development |
| ENZYME PANELS | Enzyme testing with optional reflex to genetics | Four enzyme panels: CentoMPS® Optional reflex to genetics (X-TRA2) |
When to Use It?
Genetic Panel + Biomarker/Enzyme
- Suspected metabolic disorder
- Complex, overlapping symptoms with broad differential diagnosis
- Abnormal new-born screening results
- Admission to a neonatal intensive care unit
- Symptoms related to neurological conditions of unknown etymology
- Overlapping symptoms with varying age of onset and severity
Enzyme/Biomarker + Single Gene Analysis
- Suspected specific disorder
- Clearly definable symptoms
- Follow-up monitoring
Biomarker
- Differential diagnosis
- At-risk cohort testing, patient identification
- Disease progression monitoring
- Measure response to treatment
- Guide therapeutic regimen
- Follow-up monitoring
Enzyme Panels
At-risk cohort testing
CENTOGENE’s Unique Expertise in Metabolic Disorders
Transforming the Management of Metabolic Disorders
Metabolic diseases are a group of rare, inherited diseases characterized by abnormal accumulation of different metabolites in the cells, leading to impaired functioning of the affected cellular organells.
A further subgroup, Lysosomal storage disorders (LSDs), collectively affect 1 in 5,000 live births, with Fabry and Gaucher disease being the most prevalent.3,4,5 It is estimated that every 20 minutes a child is born with an inherited LSD.
CENTOGENE has developed multiple specific biomarkers for certain LSDs with therapeutic options. For example, Lyso-Gb1 has been identified as the most effective biomarker for Gaucher disease.6 All analyses can be done from dried blood spots with CentoCard® and help with the early diagnosis, as well as disease progression and therapeutic monitoring of a specific disorder in the most effective manner.
| BIOMARKER DETERMINATION | DISEASE | GENES | DETECTION METHOD |
|---|---|---|---|
| Glucosylsphingosine (Lyso-Gb1) | Gaucher disease | GBA, PSAP | Tandem-MS |
| Lyso-Ceramide trihexoside (Lyso-Gb3) | Fabry disease | GLA | Tandem-MS |
Lyso-SM509 | Niemann-Pick disease (A/B/C1/C2) | SMPD1, NPC1, NPC2 | Tandem-MS |
| C26-Ceramide | Farber disease | ASAH1 | Tandem-MS |
myLSDapp - Innovative Support for Gaucher Specialists
To further contribute to the transformation of Gaucher disease health care, CENTOGENE has developed an easy-to-use smartphone app – myLSDapp.
The app allows Gaucher patients and physicians to track and monitor the progress of treatment, using Lyso-Gb1 as a guideline.
- Get a clear and simple overview of your patients´ biomarker results
- Keep track of your patients’ quality of life
- Transform healthcare for Gaucher
Success Story: Lyso-Gb1 as the Most Effective Biomarker for Gaucher Disease
Lyso-Gb1 has been identified as the most precise biomarker for Gaucher disease (GD)6. With a sensitivity and specificity of 100% (see below), it is the optimal biomarker for a sensitive and reliable diagnosis of GD. Evidence of patient data also proves that quantitation of this biomarker can serve as a direct indicator of disease burden and response to treatment for monitoring GD.6
LYSO-GB1 QUANTIFICATION IN GAUCHER PATIENTS AND CARRIERS
100% sensitivity and 100% specificity of Lyso-Gb1 leading to highest accuracy in patient identification for an optimal diagnosis.
OBSERVED LYSO-GB1 LEVELS IN GAUCHER PATIENTS ON THERAPY (n=19)
Lyso-Gb1 levels significantly and rapidly increase at time point t5 after a forced treatment break due to temporary unavailability of enzyme replacement therapy. Lyso-Gb1 thereby proves its superb capabilities for monitoring Gaucher disease.
Footnotes
1 Biomarker/Enzyme testing complementary to support the classification of unknown and pathogenic variants.
2 The enzyme panels listed above can be requested together with an automatic reflex to genetic testing if an enzyme deficiency is identified via CENTOGENE’s “Enzyme Panel X-TRA” option.
3 Wittmann, Judit, et al. „Newborn screening for lysosomal storage disorders in Hungary.“ JIMD Reports-Case and Research Reports, 2012/3. Springer, Berlin, Heidelberg, 2012. 117-125.
4 Burlina, Alberto B., et al. „Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy.“ Journal of Inherited Metabolic Disease: Official Journal of the Society for the Study of Inborn Errors of Metabolism 41.2 (2018): 209-219.
5 Platt, Frances M., et al. „Lysosomal storage diseases.“ Nature Reviews Disease Primers 4.1 (2018): 1-25.
6 Elstein, Deborah, et al. „Reductions in glucosylsphingosine (lyso-Gb1) in treatment-naïve and previously treated patients receiving velaglucerase alfa for type 1 Gaucher disease: Data from phase 3 clinical trials.“ Molecular genetics and metabolism 122.1-2 (2017): 113-120.