We use cookies to understand how you use our site and to improve your experience. This includes personalizing content and advertising. To learn more, click here. By continuing to use our site, you accept our use of cookies. Cookie Policy.

Features Partner Sites Information LinkXpress hp
Sign In
Advertise with Us
PURITAN MEDICAL

Download Mobile App




Epigenetic Signatures Show Promise for Diagnosing Neurodevelopmental Disorders

By LabMedica International staff writers
Posted on 15 Feb 2018
Genome-wide DNA methylation signatures have been discovered for several neurodevelopmental Mendelian disorders, which clinically could complement existing molecular tests.

The so-called epi-signatures might be particularly useful in testing for several syndromes at once and to help classify variants of unknown significance. More...
In addition to constitutional disorders, they might find applications in cancer diagnostics.

Scientists at the Western University (London, ON, Canada) and their collaborators analyzed peripheral blood DNA samples from nearly 300 patients with one of 14 Mendelian conditions, all neurodevelopmental syndromes that have been associated with defects in epigenetic regulation as well as from approximately 650 healthy controls. To generate the DNA methylation profiles, they used Illumina's HumanMethylation450 bead chip or their Infinium methylation EPIC arrays.

The team demonstrated that specific but partially overlapping DNA methylation signatures are associated with many of these conditions. The degree of overlap among these epi-signatures is minimal, further suggesting that, consistent with the initial event, the downstream changes are unique to every syndrome. In addition, by combining these epi-signatures, they demonstrated that a machine learning tool can be built to concurrently screen for multiple syndromes with high sensitivity and specificity, and they highlight the utility of this tool in solving ambiguous case subjects presenting with variants of unknown significance, along with its ability to generate accurate predictions for subjects presenting with the overlapping clinical and molecular features associated with the disruption of the epigenetic machinery.

Bekim Sadikovic, PhD, DABMGG, FACMG, an associate professor of pathology and laboratory medicine and the lead investigator of the study said, “Once we introduce this in a clinical setting and start generating larger and larger databases, with clinical information linked to them, much like what happened with microarray testing and now exome sequencing, we will uncover what other genes or conditions may have these epi-signatures. I think the best way forward, from a discovery standpoint, is to put methylation testing into routine clinical use in these patient populations that normally get genomic profiles and allow the data itself to give us additional utility.” The study was published on January 4, 2018, in the American Journal of Human Genetics.

Related Links:
Western University


Gold Member
Antipsychotic TDM Assays
Saladax Antipsychotic Assays
Serological Pipet Controller
PIPETBOY GENIUS
New
PlGF Test
Quidel Triage PlGF Test
New
Pan-Cancer Panel
TruSight Oncology 500
Read the full article by registering today, it's FREE! It's Free!
Register now for FREE to LabMedica.com and get access to news and events that shape the world of Clinical Laboratory Medicine.
  • Free digital version edition of LabMedica International sent by email on regular basis
  • Free print version of LabMedica International magazine (available only outside USA and Canada).
  • Free and unlimited access to back issues of LabMedica International in digital format
  • Free LabMedica International Newsletter sent every week containing the latest news
  • Free breaking news sent via email
  • Free access to Events Calendar
  • Free access to LinkXpress new product services
  • REGISTRATION IS FREE AND EASY!
Click here to Register








DIASOURCE (A Biovendor Company)

Channels

Hematology

view channel
Image: CitoCBC is the world first cartridge-based CBC to be granted CLIA Waived status by FDA (Photo courtesy of CytoChip)

Disposable Cartridge-Based Test Delivers Rapid and Accurate CBC Results

Complete Blood Count (CBC) is one of the most commonly ordered lab tests, crucial for diagnosing diseases, monitoring therapies, and conducting routine health screenings. However, more than 90% of physician... Read more

Immunology

view channel
Image: A simple blood test could replace surgical biopsies for early detecion of heart transplant rejection (Photo courtesy of Shutterstock)

Blood Test Detects Organ Rejection in Heart Transplant Patients

Following a heart transplant, patients are required to undergo surgical biopsies so that physicians can assess the possibility of organ rejection. Rejection happens when the recipient’s immune system identifies... Read more
Copyright © 2000-2025 Globetech Media. All rights reserved.