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




Newborn Exome Sequencing Locates Inborn Errors of Metabolism

By LabMedica International staff writers
Posted on 25 Aug 2020
Inborn errors of metabolism (IEM) form a large class of genetic diseases involving congenital disorders of metabolism. More...
The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substrates into others products.

Dozens of congenital metabolic diseases are now detectable by newborn screening (NBS) tests, especially expanded testing using mass spectrometry. This is an increasingly common way for the diagnosis to be made and sometimes results in earlier treatment and a better outcome.

A large team of scientist led by those at the University of California Berkeley (Berkeley, CA, USA) selected a subset of dried blood spots from 1,200 deidentified newborns for exome sequencing in discovery and validation stages of the study. That set included more than 800 newborns with known IEMs, along with 385 infants who had false-positive IEM results with tandem mass spec-based screening.

The team’s analysis focused on 78 genes previously implicated in four-dozen forms of IEM that are currently included in newborn screening programs in California. The NBSeq project evaluated whole-exome sequencing (WES) as an innovative methodology for NBS. The team found that the exome sequencing-based strategy could pick up authentic IEM with 88% sensitivity, compared to 99% sensitivity with tandem mass spec-based testing. The exome sequencing screening arm of the study uncovered IEMs with more than 98% specificity, while the established tandem mass spec screening method had a specificity of 99.8% for detecting IEMs.

The WES alone was insufficiently sensitive or specific to be a primary screen for most NBS IEMs. However, as a secondary test for infants with abnormal MS/MS screens, WES could reduce false-positive results, facilitate timely case resolution and in some instances even suggest more appropriate or specific diagnosis than that initially obtained.

The authors concluded that newborn sequencing IEMs provide an ideal model for evaluating the role of sequencing in population screening because most are Mendelian disorders affecting well-understood biochemical pathways, and many have been studied extensively. They noted that sensitivity and specificity of sequence-based detection of IEMs can be directly compared to those of current MS/MS screening. The study was published on August 10, 2020 in the journal Nature Medicine.

Related Links:
University of California Berkeley


New
Gold Member
Quality Control Material
iPLEX Pro Exome QC Panel
3-Part Differential Hematology Analyzer
Swelab Alfa Plus Sampler
New
Automatic Hematology Analyzer
LABAS F9000
New
Silver Member
Autoimmune Hepatitis Test
LKM-1-Ab ELISA
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

Pathology

view channel
Image: Pancreatic cancer diagnosis (Photo courtesy of World Journal of Gastroenterology)

AI-Driven Preliminary Testing for Pancreatic Cancer Enhances Prognosis

Pancreatic cancer poses a major global health threat due to its high mortality rate, with 467,409 deaths and 510,992 new cases reported worldwide in 2022. Often referred to as the "king" of all cancers,... Read more
Copyright © 2000-2025 Globetech Media. All rights reserved.