Monthly Archives: April 2017
Our Ataxia Panel Portfolio
MNG Laboratories has expanded our Ataxia/Episodic Ataxia testing to include sequencing of 330 genes with copy number analysis, mtDNA sequencing & deletion, and most notably, the Spinocerebellar Ataxia (SCA) repeat expansions. Not only is our core panel improved and broadened; we’ve also included the repeat expansions necessary to enhance the diagnostic power of our targeted Ataxia panels.
Approximately 50-80% of ataxia cases are caused by repeat expansions which are not detected by standard sequencing methods. Thus, panels that do not include these add-ons are more likely to be negative. In order to offer our clients the most sensitive testing options in a comprehensive Ataxia panel, we have expanded our panel offerings to include repeat expansions that target the most common causes of these disorders.
Our testing options now include:
SCA Repeat expansions include SCA 1, 2, 3, 6, 7, 8, 10, 12, 17, 36, & DRPLA.
Our Epilepsy Portfolio
When it comes to a Comprehensive Epilepsy Panel, it’s not just about the number of genes in that panel. You should expect a lab to know how to find a pathogenic variant that could be the cause of your patients’ conditions, regardless of the number of genes that should be analyzed.
In addition to well established, routinely tested epilepsy associated variants, we also report novel predicted disruptive variants causing epilepsy. We routinely review approximately 15,700 disease causing variants in genes associated with conditions that include seizures as a part of the clinical presentation. That’s over 20% more than our closest competitor and as much as 4 times that of others.
Comprehensive Epilepsy Panel
Our 3 key subpanels have been expanded to ensure identification of a greater number of variants, both single nucleotide and copy number variants, likely to cause specific types of epilepsy. In addition to our expanded Myoclonic Epilepsy and Epileptic Encephalopathy panels, we are also pleased to announce a new panel to our portfolio: Actionable Epilepsy Panel. Our Actionable Epilepsy Panel focuses on genetic causes that have well established, specific management recommendations established to optimize patient care.
Our Actionable Epilepsy Panel and Myoclonic Epilepsy Panel identifies more known pathogenic variants associated with seizures than any of our competitors’ related panels.
Actionable Epilepsy Panel
Myoclonic Epilepsy Panel
In order to provide the most relevant and scientifically verified variants in our reports, our Epileptic Encephalopathy Panel only includes those genes associated with OMIM phenotype searches, and known ClinVar associated pathogenic and likely pathogenic variants.
Epileptic Encephalopathy Panel
Epilepsy is a complex disease category that requires a variety of diagnostic approaches. We strive to give you the best answers possible when you trust us with your patients’ samples. Led by our Neurogenetic Answers™ platform combined with our proprietary Genome MaNaGer™ variant calling tool, we are fully confident in our ability to help you get the answers you need.