Genetic testing for

Neurology

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Neurology

Neurological illnesses affect millions of people all over the world, regardless of their age, gender, education or social status. In western countries 16% of the total population suffers from some kind of neurological disorder, of which approximately 20% suffer from a serious neurological illness (such as neuromuscular or neurodegenerative illnesses among others). The other affected people suffer from other neurological illnesses that, although aren’t as serious, cause serious repurcussions in the quality of their family, social or work life, as well as a financial cost to the health system. 

Correct diagnosis and categorisation of neurological patients is essential to ensure appropriate treatment and management.

Unfortunately, traditional clinic diagnosis of neurological illnesses is compromised by its diverse nature, the high number of existing  subtypes and overlapping phenotypes.

Recent studies show that in a high number of cases of serious neurological illnesses such as epilepsy or  developmental delay, a genetic alteration can de detected. This data positions genetic testing as the most efficient way of obtaining a differential diagnosis among neurological illnesses which is essential in finding the most appropriate treatment for a patient.

Genetic diagnosis is also a powerful tool in evaluating the risk to relatives of the patient in suffering from the same illness. Risk evaluation allows preventative treatment to be carried out, changes in lifestyle and help with family planning. What’s more, it shows that the health professionals are able to intensify the routine medical controls.

Our neurological NGS panels include genes which are clinically associated with neurological pathologies:

Continually updated panels using HPO in order to include the most recent association published between phenotype and genotype.

Lower number of VOUS thanks to our database Reflab Database®, and main genetic variants and specific to illness databases.

The best turnaround times (< 30 days).

Pre and postanalysis support with our experts in clinical genetics.

Conclusive, transparent and customizable clinical reports.

Maximum diagnostic yield and clinical utility.

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NGS Diagnostic Catalogue

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    ZINSSER-COLE-ENGMAN SYNDROME
    ZIMMERMANN-LABAND SYNDROME , NEXT-GENERATION SEQUENCING (NGS) ATP6V1B2 AND KCNH1 GENES
    ZELLWEGER SYNDROME TYPE 5A , SEQUENCING PEX2 GENE
    ZELLWEGER SYNDROME TYPE 8A , SEQUENCING PEX16 GENE
    ZELLWEGER SYNDROME TYPE 6A , SEQUENCING PEX10 GENE
    ZINC DEFICIENCY IN BREAST MILK , SEQUENCING SLC30A2 GENE

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