Gene tests for neurological disorders
CerebrumDX® gene tests introduce a new approach that replaces traditional gene panels with a single, expanded and clinically validated analysis. The CerebrumDX® test examines all coding regions of the human genome – more than 20,000 genes – enabling the detection of causative variants across a wide spectrum of neurological and neurodevelopmental disorders, with high diagnostic yield and reliability.
Why is CerebrumDX® (Whole Exome Sequencing) important in Neurology compared to gene panels?Το CerebrumDX® is applied across a wide range of inherited neurological and neurodevelopmental disorders, offering a significant diagnostic advantage in cases with complex or unclear phenotypes.
Applications in NeurologyComplex or syndromic phenotypes.
Negative or non-diagnostic results from previous gene panels or WES analyses.
Ability to analyze disorders caused by nucleotide repeat expansions.
| A sample from the examinee is sent to the laboratory |
| Obtain a family tree - Prenatal counseling |
| Processing of the sample in the laboratory |
| Results in 3-5 weeks - Genetic update |
CerebrumDX ® genetic tests offer the doctor maximum differential diagnosis, with high rates of sensitivity and specificity, saving valuable time and cost per patient case.
Sample Requirements:
Blood in EDTA (2 tubes). For special cases, please contact us for alternative sample options.
Diagnosis: Confirms the clinical diagnosis in a reliable and fast way and reduces the need for more invasive procedures (eg muscle biopsy, lumbar puncture, EMG). It is a useful tool for applying precision medicine to hereditary neurological disorders, minimizing dilemmas regarding the management of differential diagnosis, especially in disorders where the symptoms are milder, such as Myotonic Dystrophy Type 2 or the diagnosis is more demanding, as in Spinal Muscular Atrophy and Autosomal dominant Cerebellar Ataxia.
Prevention: By knowing exactly the gene mutations that are responsible for a patient’s disorder, we are able to predict its course, taking into account all the factors that concern the specific patient. We can also identify relatives who carry the same mutation and are at increased risk of developing the same disorder and be properly managed as appropriate. The contribution of the genetic test to disorders such as Myopathies is very important, where it helps in the prognosis of the patient but also in the monitoring and management of the disease within the family, indicating the need for prenatal control in each case. It also helps with prenatal/pre-implantation screening, upon request of the examinee.
Management: The proper management of the patient and his/her family is based on the reliability of the diagnosis and prognosis of the disease, so that the physician is oriented towards the most appropriate treatment and adjustment. The genetic test offers an immediate answer to the physician as to the most appropriate therapeutic approach per patient case. A typical example is Duchenne Muscular Dystrophy, where diagnosis and management are based on genetic testing of the patient to detect and repair the dystrophin gene mutation.
| PHENOTYPE | GENES | TYPE OF TREATMENT | PHARMACEUTICAL SUBSTANCE |
|---|---|---|---|
| Muscular Dystrophy Duchenne/ Becker (DMD) | Dystrophin | Targeted Therapy | Eteplirsen, Golodirsen, _ Ataluren, Casimersen |
| Spinal muscular atrophy | SMN1/SMN2 | Targeted Therapy | Nusinersen, Onasemnogene abeparvovec, Risdiplam |
| Amyotrophic Lateral Sclerosis (ALS) | SOD1 | Targeted Therapy | Tofersen |
| Familial Amyloid Polyneuropathy FAP | TTR mRNA | Targeted Therapy | Inotersen |
| ASSAY | GENES | RESULTS TIME |
|---|---|---|
| Cerebrum® DX | Coding regions of >20,000 genes (nuclear DNA) | 20 BUSINESS DAYS |
| iGenome® (WGS) | Whole Exome Sequencing (nuclear) | 25 BUSINESS DAYS |
To download the Family History table please click here.
Cerebrum® Mito analysis is based on next generation sequencing (NGS) technology enabling the complete sequencing of 37 mitochondrial DNA genes. It is a comprehensive test for the diagnosis, prognosis and management of mitochondrial diseases such as Mitochondrial Encephalomyopathy (MELAS), Myoclonic Epilepsy with Serrated Red Fibers Syndrome (MERFF), Kearns-Sayre Syndrome (KSS) etc.
| ASSAY | MITOCHONDRIAL DNA ANALYSIS | RESULTS TIME |
|---|---|---|
| Cerebrum® Mito | Mitochondrial Diseases such as: Leber/LHON, MERFF, Leigh, MELAS, MELAS, NARP, CPEO - | 25 BUSINESS DAYS |
To download the Family History table please click here.
The Cerebrum® Ataxia analysis was created for the diagnosis and management of inherited ataxias.
Genomic DNA is isolated from the examined material. The analysis of CAG and CTA/CTG trinucleotide repeat expansions is performed using the commercially available Adellgene SCAs kit. This kit enables the detection of trinucleotide repeat expansions in genes associated with the subtypes SCA1, SCA2, SCA3, SCA6, SCA7, SCA12, SCA17 and DRPLA.
The methodology is based on polymerase chain reaction (PCR), and the size of the resulting PCR product is determined through fluorescence fragment analysis on a genetic analyzer. The PCR product size is then converted into the corresponding number of CAG or CTA/CTG repeats.
| ASSAY | GENES & TYPES OF DISORDERS | RESULTS TIME |
|---|---|---|
| Cerebrum® Ataxia | FXN, SCA1, SCA2,SCA3,SCA6, SCA7 & SCA8 | 10 BUSINESS DAYS |
To download the Family History table please click here.
Why should I choose the multi-gene test?
A multi-gene test increases the chances of finding a pathogenic variant over a single-gene one. Multi-gene tests confirm the diagnosis and enable the doctor to choose the most appropriate treatment plan.
If a pathogenic mutation is found, do I need additional tests?
If a pathogenic mutation is detected you should consult your doctor.
What sample is required for the test?
The test is performed on 2 vials of blood with EDTA. Blood collection can be done in any microbiological laboratory. There is also the possibility to give a saliva sample, in a special kit sent to you by Genekor.
Is the test covered by any public/private insurance?
The test is not covered by public insurance. To find out more about possible private coverage you should contact your insurance company.
How do I make the payment for the test?
Payment can be made by bank transfer or debit/credit card.
How can I send my sample?
For the necessary sample collection procedures, please contact us at +30 210 6032138 .
Why should I sign the consent form?
For the use of the patient’s genetic material for testing, ELOT EN ISO9001:2008 and ELOT EN ISO15189:2012 require the written consent of each patient.
How will I receive my results?
Your results are shared with your GP and with you via email.
Our Customer Service Team is committed to answer your questions with regards to the services offered by Genekor. If you would like to order any of the tests that Genekor performs please contact us directly.
*To complete the test, you are required to complete and send the Consent form that you will find on the link below.
*For more information on scientific content please contact: scientific.support@genekor.com
*Download the promotional brochure here.
*Order in the United Arab Emirates here.
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