Today we’re taking a look at some important epilepsy-related genes for which testing can be particularly tricky due to their propensity for deletion and/or duplication variants and tandem repeat expansions …
This year we’re taking a survey of recent literature that’s influencing the way clinicians may approach genetic testing and treatment decisions for patients presenting with symptoms of kidney disorders now and in the future. Read on to learn with us …
A couple of months ago we received an email from Danny Miller, founder of the MEPAN Foundation. He wrote with what, on the surface, would seem to be a simple request: would we consider adding the MECR gene to our movement disorder, mitochondrial and neurology in-silico panels?
We’ve taken the approach of combining whole genome sequencing (WGS) with in-silico panel analysis for three key reasons: avoidance of amplification bias, detection of additional variant types and the ability to reanalyze the data at any time.
- ACMG secondary findings updated list for reporting of secondary findings, for medically actionable genes in clinical exome and genome sequencing
- Medically actionable genes that go beyond the ACMG set of 59
- Unavoidable vs optional incidental findings: What you need to know
- FXN: What you need to know for Friedreich’s ataxia patients
- Is WGS-based testing relevant for patients with suspected mitochondrial disease?
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