Cerebrum DX® Ataxia, Cerebrum DX®, Cerebrum DX® Exome, Cerebrum DX® Arrays.

The Cerebrum DX® assay analyzes over 4,500 genes associated with various neurological diseases.

It is a comprehensive examination for the diagnosis, prognosis and management of disorders such as movement disorders, dystonia, dementia and others.

 

The Cerebrum DX® Ataxia assay was created to diagnose and manage inherited disorders. Specifically, the analysis, depending on the phenotype, includes:

A. Friedreich Ataxia Analysis (FA) by PCR-fragment analysis

B. Analysis of Autosomal Dominant Cerebellar Ataxias (ADCA) SCA1, SCA2, SCA3, SCA6 & SCA7

On a negative result, the Cerebrum DX® analysis is suggested.

 

The Cerebrum DX® Arrays analysis is based on the Microarrays method, where chromosomal abnormalities are analyzed and we can identify and diagnose developmental disorders and intervene accurately in their management.

 

The Cerebrum DX® Exome analysis analyzes over 20,000 genes and is recommended for the diagnosis and management of cases where no finding has been found in gene panels, as well as in cases where the diagnosis is particularly demanding as in the case of ALS - Lateral Amyotrophic Sclerosis.

 

Why CerebrumDX® molecular tests are important for:

 

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. 

Prognosis:

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.

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 monitoring.

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.

CerebrumDX® as a disease management tool:

  • It helps to individualize the treatment based on the specific genotype of the patient and to avoid unnecessary medications and interventions.
  • Recommends monitoring of other organs that may not have been examined before.
  • It assists in family planning and acts as an advisory agent in establishing the necessary prenatal control.
  • It can offer patients the opportunity to participate in clinical trials and newly developed targeted therapies.

 

Test

Genes

Result Time

 

CerebrumDX®

 

>4.500 genes

25 working days

 

CerebrumDX® Exome

 

>20.000 genes

25 working days

 

Test

Genes & Ataxia Types

 

CerebrumDX® Ataxia

 

FXN

 

SCA1, SCA2, SCA3, SCA6 & SCA7

 

 

10 working days

10 working days

 

 

 

Test

Analysis of Large Genomic Rearrangements

 

CerebrumDX® Arrays

 

CytoScan 750K Suite

750,000  markers

( includes polymorphic markers)

15 working days

 

DISORDERS

GENES

AMYOTROPHIC LATERAL SCLEROSIS

38

MUSCULAR DISTROPHY

76

PARAPLEGIA

160

ATAXIAS

680

AUTISM

355

EPILEPSIES

1308

MYOPATHIES

205

PARKINSONISM

100

PARKINSON

40

DEMENTIA

142

MIGRAINES

82

HEMIPLEGIC MIGRAINE

26

NEUROMUSCULAR DISEASE

258

SPASTIC PARAPLEGIA

111

LEYKOENCEPHALOPATHY

169