ACT Genomics

A negative genetic test result does not always mean the genetic cause has been ruled out. In Neurofibromatosis Type 1 (NF1), disease-causing variants may appear as small SNVs or indels, larger CNVs or structural variants, or variants located outside the usual coding regions, such as deep intronic variants. In this article, ACT Genomics discusses how ACTInherit Whole Genome Sequencing (WGS) may support broader genomic analysis for complex or unresolved hereditary disease cases. Read the full article: https://smpl.is/ak16t

International clinical guidelines and expert consensus are reshaping how genetic testing is considered in pediatric neurodevelopmental disorders. For children with developmental delay, intellectual disability, autism spectrum disorder, congenital anomalies, or suspected hereditary disease, Whole Exome Sequencing (WES) and Whole Genome Sequencing (WGS) are increasingly recommended as early-line diagnostic tools in appropriate clinical scenarios. In this article, ACT Genomics discusses how ACTExome and ACTInherit can support earlier molecular diagnosis, clearer clinical direction, and more informed long-term care planning. Read the full article: https://smpl.is/ajo1v

When diabetes appears across generations, there may be an underlying hereditary cause that standard evaluation has not yet identified. With ACTInherit Whole Genome Sequencing (WGS), this family’s underlying diagnosis was clarified as MODY—helping support a more informed direction for care. Read the full article to learn how precision diagnosis may help change the course of care in familial diabetes: https://smpl.is/ajgia

ACT Genomics today announced a significant upgrade to the ACTDrug® series, its next-generation sequencing (NGS) genomic profiling service. The updated panel now covers 101 clinically relevant genes and offers a seven-working-day turnaround time, designed to provide comprehensive genomic information to support physicians in making treatment decision for newly diagnosed patients with advanced or metastatic cancer. The full article: https://smpl.is/aj60h

For patients with rare or hereditary diseases, inconclusive results after multiple tests remain a major clinical challenge. ACTInherit, ACT Genomics’ Whole Genome Sequencing (WGS) solution, is designed to support the evaluation of complex and unresolved cases through broader genome-wide analysis and detection of multiple variant types, including SNVs, Indels, CNVs, SVs, and mitochondrial DNA abnormalities. In our latest blog, we discuss how WGS may help shorten the diagnostic odyssey and provide more actionable genomic insight for clinicians and families. Read more: https://lnkd.in/gAnkdRne

We are glad to share ACTMonitor® Breast is now expanded to 10-gene panel with the addition of AKT1 and PTEN biomarkers. This enhancementis designed to broaden molecular insights available to clinicians andlaboratories supporting breast cancer monitoring and care. Read the full article: https://smpl.is/aho41

It's #GallbladderCancer #BileDuctCancer #AwarenessMonth. Join us in exploring the latest landscape of precision medicine in biliary tract cancer, from molecular profiling and RNA fusion testing to biomarker-driven treatment strategies. Full artcle: https://smpl.is/ahktt

🐎 馬到成功，健康同行。 ACT Genomics 行動基因祝您 新春快樂，萬事順心！ 新的一年，持續以精準醫療為每一個生命帶來更有力的行動。

Galloping into the Year of the Horse with strength and momentum.🐎 ACT Genomics wishes you a healthy and successful Lunar New Year!

ACT Genomics at the 7th RMC Joint Conference: Pioneering Precision Medicine. It's our honor to share thoughts with onsite physicians and discuss our latest publication.