Variantyx Posts

Spotlight on Autism Spectrum Disorders

autism spectrum disorders

A diagnosis of autism spectrum disorder specifies that the patient meets behavioral criteria that define and describe the disorder, but doesn’t specify why. Genetic testing can help identify the molecular cause in 20-25% of children with autism spectrum disorder.

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Spotlight on Hereditary Kidney Disorders

hereditary kidney disorders

Overwhelmingly, most cases of kidney disease are the result of complications of diabetes or high blood pressure. However, roughly 10% of cases are hereditary in nature – a proportion that is significantly higher in children presenting with symptoms of kidney disease.

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Expanded coverage of repeat expansion loci

repeat expansion loci
With a growing number of different pathogenic repeat expansions linked to human disease, genetic testing for this unique class of mutations is an important component of the diagnostic process for many patients. Today we’re excited to share that we’ve expanded the number of pathogenic repeat expansion loci covered in our Genomic Unity™ test to a total of 21!

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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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