Cerebrum®
The Cerebrum DX® gene tests for neurological disorders are a set of thorough, clinically validated, extremely sensitive, and specific multi-gene assays that examine genes linked to developmental and neurological problems that run in families: Neuromuscular Conditions Congenital neurodegenerative diseases and neuropathies ,intellectual disability Ataxias Having epilepsy Disorders of Kinetics Neurogenetic Conditions Autism ,Parkinson ,Skeletal muscle diseases, myopathies ,myasthenia ,cardiomyopathies, etc
Cerebrum® as a tool for managing disease: It helps to eliminate needless drugs and treatments and to tailor the treatment according to the patient’s unique genotype. It suggests keeping an eye on additional organs that might not have previously been checked. It serves as an advice tool for establishing the required prenatal control and aids in family planning. Patients may be given the chance to take part in clinical trials and recently created tailored treatments.
The process from receiving a genetic test findings to reporting them The laboratory receives a sample from the examinee. Obtain a family tree and seek prenatal guidance.
The sample’s laboratory processing Results:
Genetic update in 3–5 weeks
The significance of Cerebrum® DX Gene Tests for Neurological Disorders With high rates of sensitivity and specificity, CerebrumDX genetic tests give the clinician the most differential diagnosis possible, saving them a significant amount of time and money every patient case.
Diagnosis : Provides rapid and reliable confirmation of the clinical diagnosis and minimizes the need for more invasive procedures (such as muscle biopsy, lumbar puncture, and EMG) and ® Cerebrum® – Genekor.It is a helpful tool for using precision medicine to treat hereditary neurological disorders, reducing problems with differential diagnosis management, particularly in conditions with milder symptoms (like Myotonic Dystrophy Type 2) or more difficult diagnoses (like Spinal Muscular Atrophy and Autosomal dominant Cerebellar Ataxia).
Prevention: By identifying the precise gene mutations causing a patient’s condition, we can forecast how it will develop while accounting for all relevant variables. Relatives who have the same mutation and are more likely to get the same illness can also be found and treated appropriately. When it comes to conditions like myopathies, genetic testing plays a crucial role in both the patient’s prognosis and the monitoring and treatment of the illness in the family, highlighting the necessity of prenatal care in each instance. If the examinee requests it, it also aids in prenatal and pre-implantation screening.
Management: In order to guide the doctor toward the best course of action and modification, the accurate diagnosis and prognosis of the illness are the foundation for the right management of the patient and his or her family. The genetic test provides the doctor with an instant response regarding the best course of treatment for each patient. Duchenne muscular dystrophy is a common example, where the patient’s genetic testing is used to identify and fix the dystrophin gene mutation.
Tests for Customized Treatment
- Type of Treatment for PhenomenesPharmaceutical Ingredient
- Dystrophy of the Muscles Becker/Duchenne (DMD) Therapy Targeting DystrophinCasimersen, Ataluren, Golodirsen, and Eteplirsen
- Atrophy of the spinal musclesTargeted Therapy for SMN1/SMN2Risdiplam, Onasemnogene abeparvovec, and Nusinersen
- Targeted Treatment for Pigmentosa Retinitis RPE65Both Neparvovec and Voretigene
- ALS stands for Amyotrophic Lateral Sclerosis.Targeted Therapy for SOD1Tofersen
- FAPTTR mRNA in Familial Amyloid PolyneuropathyFocused TreatmentInotersen
A blood sample is used for Cerebrum® gene testing (2 vials of blood with EDTA).
Sample report
Cerebrum DX
Analysis of more than 5,200 genes linked to different neurological disorders is made possible by Cerebrum® DX. It is a thorough test for the diagnosis, prognosis, and treatment of neurological conditions like Parkinson’s, migraines, familial spasmodic paraplegia, and others. In order to help doctors diagnose diseases with ambiguous phenotypes and with prenatal screening, the iGenome® gene test examines the complete genome in an effort to identify variations in genes linked to hereditary diseases. MyWES® analysis examines every coding region of the human genome (more than 20,000 genes; Whole Exome Sequencing). It is advised for the diagnosis and treatment of situations in which gene panels have not revealed any information, as well as in situations where the diagnosis is extremely difficult, such as in the case of Amyotrophic Lateral Sclerosis (ALS).
Time for assay gene results:
Cerebrum DX 20 working days more than 20000genes Whole exome sequencing iGenome 25 days
Ataxia Cerebrum®
In order to diagnose and treat hereditary ataxias, the Cerebrum® Ataxia analysis was developed. Cerebellar ataxias that are autosomal dominant: SCA3, SCA6, SCA1, SCA2, SCA7, and SCA 8 are in descending sequence and are brought on by the triplet repeat expansion of CAG nucleotides.
Types of disorders and their symptoms
- ASSAY :cerebrum Ataxia
- GENES /DISORDERS :FXN,SCA1,SCA2,SCA3,SCA6,SCA7 SCA8
- RESULTS 10 days
Report on Cerebrun Ataxia
Next generation sequencing (NGS) technology, which allows for the full sequencing of 37 mitochondrial DNA genes, is the foundation of Cerebrum® Mito analysis. It is a thorough test for diagnosing, predicting, and treating mitochondrial disorders like Kearns-Sayre Syndrome (KSS), Myoclonic Epilepsy with Serrated Red Fibers Syndrome (MERFF), and Mitochondrial Encephalomyopathy (MELAS).
Results Time for Assaymitochondrial DNA Analysis Cerebrum® MitoMitochondrial Diseases, including CPEO -25 BUSINESS DAYS, Leber/LHON, MERFF, Leigh, MELAS, MELAS, NARP
Report on Cerebrum Mito analysis
The Cerebrum® Arrays study is based on the Microarrays approach, which allows us to correctly diagnose developmental diseases and intervene in their management by analyzing chromosomal anomalies.
Large-scale gene rearrangement analysis and results time For gene rearrangement investigation, Cerebrum® Arrays CytoScan 750K Suite contains 750K markers, including 550K non-polymorphic markers and 200K SNPs.
Internationals Guidelines
- The EFNS and ENS have recommended international guidelines for the diagnosis and treatment of different forms of ataxias.
- The American Association of Pediatrics recommends this method for diagnosing and treating different forms of epilepsy.
- For the diagnosis and treatment of Parkinson’s disease, Huntington’s disease, and dystonia, EFNS recommends
- ACMG’s recommendation for autism diagnosis and treatment.
- For the diagnosis and treatment of amyotrophic lateral sclerosis
Two vials of blood containing EDTA are used for the test. Any microbiological lab can perform blood collection. Additionally, you have the option to provide a saliva sample using a specific kit that will provide you.
