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 Variantyx Unity™ test to a total of 23!
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.
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.
In this week’s post we’re taking a closer look at short tandem repeats (STRs) and how they’re detected using whole genome sequencing (WGS).
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.
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.