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
INTEGRA BIOSCIENCES AG

STRECK LABORATORIES

Develops and manufactures products for clinical and research laboratories in biotechnology, clinical controls, hemato... read more Featured Products: More products

Download Mobile App




New PCR Assay Rapidly Diagnoses Myotonic Dystrophy Gene Targets

By LabMedica International staff writers
Posted on 01 Mar 2015
In a proof-of-principle study, scientists have developed a conventional-PCR diagnostic test that specifically identifies myotonic dystrophy type 1 (DM1) gene targets from whole blood samples in 15 minutes, obviating the need for prior DNA purification or concentration.

Many PCR-based diagnostics are still considered time- and labor-intensive due to disparate purification, amplification, and detection steps. More...
Advancements in PCR enzymes and buffer chemistry have increased inhibitor tolerance, facilitating PCR directly from crude samples. However, direct PCR protocols have also traditionally employed thermal cyclers with slow ramp-rates and conservative hold-times. The objective of the study was to reduce sample preparation and assay time for a PCR-based genetic test by pairing an inhibitor-resistant enzyme mix with a rapid thermal cycler for direct analysis of whole blood samples.

Scientists from Streck, Inc. (Omaha, NE, USA) improved a genetic screening assay of DM1, a triple-repeat genetic disorder and the most common adult form of muscular dystrophy, through adaptation of a conventional PCR by using Streck’s “PhilisaW Thermal Cycler” and New England Biolabs’ inhibitor-resistant “NEB NextW High-Fidelity 2X PCR Master Mix.” Template sample was 10% whole blood. For detection agarose gel electrophoresis or an Agilent 2100 Bioanalyzer was use. As a reference assay, Gene Link’s “Myotonic Dystrophy Genemer Kit” was used per the kit-specific PCR protocol.

PCR amplification of the DM1 short tandem repeats was completed in 15 minutes using 30 cycles, including in situ hot-start/cell lysis. Out of the 40 donors screened, 23 (57.5%) were identified as DM1 negative. These results were 100% concordant with results using the reference kit.

The outcome is a simple exclusionary screening assay for DM1, independent of up-front sample prep, with significant improvement in time-to-results. This approach could also be applied to adapt other conventional PCR tests where genomic DNA is targeted for analysis.

The paper, by Connelly C et al., was published in the December 2014 issue of the journal BMC Medical Genetics.

Related Links:

Streck



Gold Member
Troponin T QC
Troponin T Quality Control
Verification Panels for Assay Development & QC
Seroconversion Panels
New
Hemoglobin/Haptoglobin Assay
IDK Hemoglobin/Haptoglobin Complex ELISA
New
Cytomegalovirus Test
NovaLisa Cytomegalovirus (CMV) IgG Test
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








Channels

Clinical Chemistry

view channel
Image: The GlycoLocate platform uses multi-omics and advanced computational biology algorithms to diagnose early-stage cancers (Photo courtesy of AOA Dx)

AI-Powered Blood Test Accurately Detects Ovarian Cancer

Ovarian cancer ranks as the fifth leading cause of cancer-related deaths in women, largely due to late-stage diagnoses. Although over 90% of women exhibit symptoms in Stage I, only 20% are diagnosed in... Read more

Immunology

view channel
Image: The cancer stem cell test can accurately choose more effective treatments (Photo courtesy of University of Cincinnati)

Stem Cell Test Predicts Treatment Outcome for Patients with Platinum-Resistant Ovarian Cancer

Epithelial ovarian cancer frequently responds to chemotherapy initially, but eventually, the tumor develops resistance to the therapy, leading to regrowth. This resistance is partially due to the activation... Read more

Pathology

view channel
Image: AI-analyzed images from the FDM microscope show platelet clumps in motion (Photo courtesy of Hirose et al CC-BY-ND)

AI Microscope Spots Deadly Blood Clots Before They Strike

Platelets are small blood cells that act as emergency responders in the body, rushing to areas of injury to help stop bleeding by forming clots. However, sometimes platelets can overreact, leading to complications.... Read more

Technology

view channel
Image: The new algorithms can help predict which patients have undiagnosed cancer (Photo courtesy of Adobe Stock)

Advanced Predictive Algorithms Identify Patients Having Undiagnosed Cancer

Two newly developed advanced predictive algorithms leverage a person’s health conditions and basic blood test results to accurately predict the likelihood of having an undiagnosed cancer, including ch... Read more
Copyright © 2000-2025 Globetech Media. All rights reserved.