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.
We’re excited to announce the launch of our RareDx program, our philanthropic effort to help end the diagnostic odyssey for underserved, undiagnosed rare disease patients through whole genome testing.
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!
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.
Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are related disorders that are characterized by progressive degeneration and weakening of the muscles, particularly skeletal and heart muscles. Both are caused by mutation of the DMD gene.
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Framingham MA 01701 USA
Phone: +1 617-209-2090