Genetic tests for neurological conditions

Neurological disorders refer to diseases affecting central or peripheral nervous system, including the brain, spinal cord, cranial nerves, peripheral nerves, nerve roots, autonomic nervous system, neuromuscular junction, and muscles.

Challenges in neurological condition diagnosis

Overlapping symptoms

There are overlapping symptoms of neurological diseases, for example, abnormal gait, developmental delay, muscle weakness, difficulties in coordination, sudden behavioral change, and dementia. It is difficult for clinicians to rule out the possibility of multiple diseases and disease subtypes from personal experience, which makes diagnosis difficult.

Long diagnostic time

25% of patients had to wait between 5 to 30 years from early symptoms to confirmatory diagnosis of their diseases1, it takes average 8 years to diagnosis2. And 40% of patients first received a wrong diagnosis1.
I don't have a family history of a hereditary disease. Should my symptoms have nothing related to genetics?

Not every patient has a family history. Genetic diseases can exist in dominant or recessive forms. They can also be caused by acquired mutations.

I heard that many of the neurodegenerative diseases are rare and have no cure. Why should I find out the cause of disease?

There are now more and more rare disease treatments available, which some of the rare diseases are not incurable. For example, Spinraza for treating Spinal Muscular Atrophy (SMA), and Everolimus for treating Tuberous Sclerosis Complex. More pharmaceutical companies are willing to develop drugs for rare diseases. They choose to develop each drug based on the number of patients in patient registry. They consider the number of patients in the patient registry as one of the factors affecting which drugs to develop. A confirmatory diagnosis can help establish a patient registry. In a long run, it helps to make more drugs available.

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A high accuracy standard

Steps Accuracy
DNA sequencing 99.9%
Variant calling – SNP >99%*
Variant calling – Indel >99%*
Variant Annotation 100%#

* Passed GenQA/UK NEQAS external quality assurance

# The interpretation of sequencing variants is based on the current understanding of the variants at the time it was observed, which may change over time as more information about the genes becomes available. Not all variants are represented in this report.


Reference:

1. Eurordis – Rare Diseases Europe

2. Global Genes. RARE Disease Facts. https://globalgenes.org/rare-facts/