Predictive Analysis for Parkinson’s Disease

Create a genetic risk profile and obtain certainty

Parkinson’s disease is the second most common neurodegenerative disease after dementia.1 Those affected are often between fifty-five and sixty years old at the time of diagnosis. However, some patients develop the disease at a younger age. A genetic analysis can provide clarity about the genetic risk of developing Parkinson’s disease. This means that you are prepared in the event of illness.

Are you insured in Germany? Our colleagues at Zentrum für Humangenetik Tübingen will gladly support you!

The Advantages of Our Predictive Analysis for Parkinson’s Disease

Detailed consultation

Analysis of thirty-one risk genes

Complete analysis of the genes

Comprehensive medical report

What is Parkinson’s Disease?

Parkinson’s disease is a neurodegenerative disease. It is caused by dying nerve cells in the midbrain, especially in a brain region named substantia nigra (figure 1). The nerve cells (neurons) in this region are responsible for producing the neurotransmitter (messenger substance) dopamine.

The different areas of the brain including substantia nigra.

Figure 1: The different areas of the brain.

Dopamine is essential for the communication between nerve cells and, therefore, for the fine adjustment of movement sequences. In Parkinson’s disease, there is an increased death of these dopamine-producing cells. As a result, movements can no longer be carried out correctly, and typical symptoms such as slow movement, stiffness, or tremors can occur. The disease can have various causes, whereby genetic variants can also play a role.

A neurotransmitter is a biochemical messenger that carries information between nerve cells (neurons) or, e.g., from nerve cell to muscle. Different types of neurotransmitters have different effects on the recipient cell. A distinction is made between inhibitory and excitatory signals.
The neurotransmitters are kept in vesicles (small bubbles) in the preceding nerve cell (presynapse). If a signal arrives at the end of a nerve cell, neurotransmitters are released into the synaptic cleft, the intermediate space to the next cell. Upon reaching the subsequent cell, the neurotransmitter binds to specific receptors and thereby transmits the signal to this cell (figure 2).

Transmission of stimuli via synapses

Figure 2: Transmission of stimuli via synapses. The signals are transmitted to the next nerve cell via the synaptic cleft using messenger substances (neurotransmitters). In Parkinson’s disease (right), the amount of neurotransmitters transmitted is insufficient compared to a healthy synapse (left).

Dopamine is of great relevance to Parkinson’s disease. It has an activating effect and ensures that movement sequences can take place in a coordinated manner. However, in the presence of Parkinson’s disease, not enough dopamine is present in the brain. The lack of dopamine inhibits the respective signal transduction, leading to impaired movement sequences and, therefore, impaired mobility (figure 2).

The causes of the development of Parkinson’s disease have not yet been finally clarified. Genetic factors as well as environmental factors, and a combination of these can cause the death of dopaminergic neurons. The lack of dopamine ultimately leads to the described limitations.

If an increased risk of Parkinson’s disease is identified, it is possible to react at an early stage and, if necessary, counteract with medication.

Four Reasons for CeGaT’s Predictive Analysis for Parkinson’s Disease

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Certified Laboratory

All samples are processed in-house. CeGaT’s laboratory is accredited according to CAP/CLIA and DIN EN ISO 15189 and ensures reliable results.

Long-Term Expertise

Since fifteen years we are your experts for genetic diagnostics. Thanks to our many years of experience, you can rely on our knowledge and the quality of our work.

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Risk Genes in Focus

We only examine relevant genes that have been scientifically confirmed as risk genes and pose a risk of disease. You can find out which genes are examined here.

Comprehensive Analysis of Genes

Using next-generation sequencing, we analyze the sequences of the selected genes in their entirety and do not limit ourselves to so-called hotspot regions. This ensures that no relevant information is overlooked and provides you with reliable findings.

CeGaTs comprehensive analysis does not limit itself to so-called hotspot regions.

Figure 3: Compared to other providers, CeGaT analyzes the sequences of the selected genes comprehensively and does not limit itself to so-called hotspot regions.

Field Report

Felix H. ein erhöhtes Risiko für Parkinson durch eine Variante im Gen PARK7 ergeben.

Felix H., 30 years old

Lifestyle: sporty and adventurous

Result: for Felix H., our predictive diagnostics found an increased risk for Parkinson’s disease due to a variant in the gene PARK7, that can trigger an onset of Parkinson’s disease before the age of fourty.

Consequence: Felix H. regularly visits the doctor, to be able to take countermeasures at an early stage if necessary.

„The analysis of my genes has given me clarity about my genetic predisposition and sensitized me to the early detection of a possible disease. This makes me feel better prepared for the future.”

How Does Genetic Risk Assessment Work?

Various factors contribute to the development of Parkinson’s disease. We help you to determine the genetic risk factors. In the predictive Parkinson’s disease analysis, thirty-one genes are analyzed that are associated with an increased risk for Parkinson’s disease.

Gene Set

Parkinson’s Disease (NDD05, 31 Genes)

On page 3 of the order form, you can select the gene set “Parkinson’s disease (31 genes, NDD-05)”. For predictive analyses, you can also check the box “Proband is NOT aff ected (predictive testing)” at the top of page 2.

ATP13A2, ATP1A3, C19orf12, CHCHD2, DCTN1, DNAJC12, DNAJC6, FBXO7, FTL, GBA, GCH1, GRN, LRRK2, MAPT, PANK2, PARK7, PINK1, PLA2G6, PRKN, PRKRA, PSAP, SLC30A10, SLC39A14, SLC6A3, SNCA, SPR, SYNJ1, TAF1, TH, VPS13C, VPS35

Our Experts

General Information

Genetic Counseling

Our genetic counseling provides detailed information to those seeking advice about their genetic testing options and further procedures. During the consultation, we also discuss which genes can be analyzed. We want to ensure that all relevant questions are answered and that people seeking advice can make informed decisions about their health.

Genetic Analysis and Result

Our in-house laboratory analyzes the genes using an advanced technology called next-generation sequencing, or NGS for short. To do this, we isolate the DNA from the cells in the blood sample (figure 3) and then read the individual building plan of the DNA step by step (sequencing). We do not limit ourselves to so-called hotspot regions. Instead, we read the genes in their entirety.

The sequenced information is then analyzed in-house. We investigate whether particular characteristics or changes (variants) in the genes are associated with an increased risk of disease. We compile the results in a report and conclude by explaining what significance this could have for the health of the person seeking advice.

Further details on sample material and shipment can be found here.

Diagnostic process for the Prevention Panel

Figure 3: Diagnostic procedure — from genetic analysis to the report.

Frequently Asked Questions

Before Choosing a Test

Predictive Parkinson’s analysis is for individuals who want to personalize their life planning individually. The analyzed diseases don’t need to have already occurred in your family. On the contrary, a different type of analysis may be more suitable if you already have a family history of a certain disease. We will be happy to advise you on this.

This test is a predictive genetic analysis, which means that healthy individuals are tested for diseases that may occur in the future. For this reason, comprehensive counseling with a specialist in human genetics and a declaration of consent after the consultation, if necessary after a reflection period, are absolute prerequisites. We offer genetic counseling. Our specialist in human genetics will provide you with all the relevant information you need to make a decision about genetic testing.

Genetic counseling is a detailed consultation session with a specialist in human genetics in which all your questions about genetics are discussed. Based on a structured family history with a pedigree of up to three generations, we can address your situation and point out possible analysis options. You then decide whether and to what extent you would like to order a genetic diagnostic test. We can offer the consultation either in person on-site or in a video consultation. If your doctor already has the necessary qualifications, they are welcome to advise you and order the diagnostics from us.

If you cannot come to Tübingen, we gladly send you a sample collection kit. You can use this kit to have your sample taken by a local doctor (e.g., a family doctor) and then send it back to us.

When analyzing biomarkers in the blood, e.g., cholesterol or tumor markers, a disease state’s impacts are measured. The disease may have already occurred at this point. With predictive diagnostics, we start much earlier: we examine healthy people. We determine whether and in which areas there is an increased risk of illness.

Predictive Parkinson’s analysis is not covered by public health insurance. In the case of private health insurance, coverage depends on the type of insurance. You are welcome to clarify this with your insurance company in advance (you will receive a cost estimate from us for this purpose). If a medical indication for testing is identified during genetic counseling, genetic testing for a specific issue might be covered by health insurance.

Sample & Analysis

We need a blood sample from the person seeking advice for the test.
On request, we can send you a sample collection kit. You can use this kit to have your blood sample taken by your family doctor and then send it back to us.

The sample is sent to:
CeGaT GmbH
Paul-Ehrlich-Straße 23
D-72076 Tübingen
Germany .

It is processed in our own laboratory. Following the laboratory process, we prepare a medical report including individual recommendations for adapting your health care.

Are you insured in Germany? Our colleagues at the Zentrum für Humangenetik Tübingen will gladly support you!

The samples for the predictive Parkinson’s disease analysis are analyzed using next-generation sequencing (NGS). We analyze the entire exome. In simple terms, this includes all genes in your genetic constitution. More precisely, all known areas in your genetic constitution that are potentially disease-causing are analyzed.
It is therefore a very comprehensive genetic test.

Result & Consultation

Predictive genetic diagnostics is always accompanied by genetic counseling with a medical specialist in this field. All questions are clarified before the analysis, and the appropriate test is discussed. After the analysis, we explain the results. This means that you are guided through the entire process and have a contact person at your side for any questions about your results.
If your doctor is already qualified in genetic counseling, you can also seek her or his advice. Your doctor can then order the diagnostics from us. If this is not the case, feel free to contact us so that one of our medical specialists can advise you.

After sending in the sample, the analysis will only take a few weeks. Afterwards, you will be informed of the results in a medical consultation.

All results are based on the current state of research. Our scientists conduct detailed research into the variants found. These scientific sources are also named in your report, allowing you and your doctors to understand what our recommendations are based on.

You will receive the results and your report during the genetic counseling session. Here you will also be able to discuss your results and ask any questions you may have. You can then share this report with other doctors at any time. We only send the results to the patient / person seeking advice themselves.

Storage and Data Protection

You can decide for yourself if your sample and data should be destroyed after the analysis or if we should keep them, for example, for additional tests for a longer period (normally 10 years). A respective declaration of consent is included in our consent form, which you fill out together with a medical specialist before an analysis can take place.

Preventive Healthcare for Companies

Companies and healthcare facilities rely on our many years of experience and expertise in genetic diagnostics.
Are you also interested in preventive healthcare for your employees?

Downloads

Order Form NDD

(requestable via NGS Panel for Neurodegenerative Diseases on Page 3. For predictive analyses, you can also check the box “Proband is NOT aff ected (predictive testing)” at the top of page 2.)

Contact Us

Do you have a question, or are you interested in our service?

Diagnostic Support

We will assist you in selecting the diagnostic strategy – whether as a person seeking advice or as a physician.

PRV team of CeGaT

Referenzen

1 GBD 2017 Disease and Injury Incidence and Prevalence Collaborators. Global, regional, and national incidence, prevalence, and years lived with disability for 354 diseases and injuries for 195 countries and territories, 1990-2017: a systematic analysis for the Global Burden of Disease Study 2017. Lancet. 2018 Nov 10;392(10159):1789-1858. doi: 10.1016/S0140-6736(18)32279-7. Epub 2018 Nov 8. Erratum in: Lancet. 2019 Jun 22;393(10190):e44. PMID: 30496104; PMCID: PMC6227754.