Variantyx Posts

Spotlight on Epilepsy

epilepsy

Epilepsy is a neurological disorder in which abnormal brain activity results in seizures. Seizures can be induced by many factors, but some forms of epilepsy are genetic in origin. Even in these cases, obtaining a molecular diagnosis can be difficult due to oftentimes complex patterns of inheritance.

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Comprehensive hereditary cancer screening: Know the sequencing technology being used

hereditary cancer screening

When considering hereditary cancer testing, it’s important to know what mutations are covered and therefore how comprehensive the test is. When available hereditary cancer screening tests are reviewed, we find an intersection of 28 well-studied cancer predisposition genes that are covered by most if not all of the tests. Of these genes, 24 have previously described, cancer-associated del/dup mutations that are two exons or less in size. This is significant for two reasons.

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Spotlight on inherited ataxias

inherited ataxias

Genetic ataxias are caused by mutations that result in the production of abnormal proteins. These abnormal proteins impact the function of nerve cells, particularly in the cerebellum and spinal cord, generally resulting in degeneration and progressive worsening of symptoms. Some cases of genetic ataxias are sporadic, arising through independent acquisition of a mutation, but most are inherited.

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Spotlight on Charcot-Marie-Tooth disease

charcot-marie-tooth disease

Charcot-Marie-Tooth disease is a group of inherited disorders that affect the peripheral nervous system. There are many different forms of the disease. Some are caused by small nucleotide changes, while others are caused by gene duplication or deletion events which can be detected by whole genome sequencing.

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How to incorporate FACE2GENE phenotype data into WGS testing

phenotypes

When trying to solve a diagnostic odyssey case through whole exome (WES) or whole genome sequencing (WGS), access to complete and accurate phenotype information is one of the most important factors. To make it as easy as possible for clinicians to provide phenotype information when submitting cases for genetic testing, we partnered with FDNA to create a conduit between their widely used FACE2GENE phenotyping application and our genetic testing platform.

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