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Molecular Diagnostics

Image: Ultrasound scan of fetus showing hydrops fetalis (Photo courtesy of Wikimedia Commons)

Exome Sequencing Identifies Genetic Loci Linked to the Fetal Syndrome Nonimmune Hydrops Fetalis

An exome sequencing technique was used to identify genetic loci linked to development of about 30% of cases of nonimmune hydrops fetalis (NIHF). More...
19 Oct 2020
Image: Mutations Disrupting Neuritogenesis Genes Confer Risk for Cerebral Palsy (Photo courtesy of Sudarshan Dayanidhi, PhD, and Richard L. Lieber, PhD).

Mutations Disrupting Neuritogenesis Genes Confer Risk for Cerebral Palsy

Cerebral palsy (CP) is a group of permanent movement disorders that appear in early childhood. Signs and symptoms vary among people and over time. Often, symptoms include poor coordination, stiff muscles, weak muscles, and tremors. More...
14 Oct 2020
Image: Mitochondrial DNA comprises the small circular chromosome found inside mitochondria. The mitochondria, and thus mitochondrial DNA, are passed from mother to offspring (Photo courtesy of Wikimedia Commons)

Elevated Levels of Defective Mitochondrial DNA Predict Likelihood of Reproductive Success

A sperm biomarker has been found that may be able to supplement or replace the semen parameters that poorly predict reproductive success yet are the most prevalent diagnostic tool for male infertility. More...
14 Oct 2020
Image: DBS sampling is simple, inexpensive and can be self-collected by the patient at home, using a simple finger prick (Photo courtesy of University of Birmingham)

Use of Dried Blood Samples Facilitates Tracking of COVID-19 Antibodies

A recent study confirmed that dried blood spot samples could be used as an alternative to venous blood for detecting antibodies to the SARS-CoV-2 virus (COVID-19). More...
13 Oct 2020
Image: Yellow color shows thiamine degradation on an agar plate of cultured Paenibacillus thiaminolyticus (Photo courtesy of Catherine A. Richter, PhD).

Bacterium and Viral Coinfection Contributes to Postinfectious Hydrocephalus

Neonatal sepsis often precedes postinfectious hydrocephalus (PIH), although the manifestations of hydrocephalus typically emerge in the months after the neonatal period as sufficient cerebrospinal fluid (CSF) accumulates such that cranial expansion garners medical attention. More...
12 Oct 2020
Image: Structure of the apolipoprotein(a) protein (Photo courtesy of Wikimedia Commons)

Elevated Levels of Lipoprotein(a) Predict Increased Risk for Developing Cardiovascular Diseases

Measurement of the blood biomarker lipoprotein(a) predicts risk of developing cardiovascular disease as well as determination of such standard factors as cholesterol and triglycerides. More...
12 Oct 2020
Image: The HiSeq X Series incorporates patterned flow cell technology to generate an exceptional level of throughput for whole-genome sequencing. (Photo courtesy of Illumina).

Genome Sequencing Evaluated in Children with Unexplained Medical Complexity

Children with medical complexity (CMC) have at least one chronic condition, depend on a technological tool like a ventilator or require intravenous nutrition or drugs, are under the care of multiple subspecialists, and have substantial healthcare use. More...
08 Oct 2020
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Genetic Testing channel of LabMedica brings the latest in molecular genetics, cytogenetics, and epigenetics, and methods from PCR to FISH, and more.
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