Syndromes Without a Name Bring Labs an Uphill Battle
In an era when genetic and genomic testing are theoretically affordable and accessible, why do so many patients remain undiagnosed?
In an era when genetic and genomic testing are theoretically affordable and accessible, why do so many patients remain undiagnosed?
From - Diagnostic Testing & Emerging Technologies
A novel fingerstick test may improve access to Toxoplasma gondii testing for pregnant women, according to…
From - Diagnostic Testing & Emerging Technologies
Artificial intelligence- (AI-) based technology is beginning to penetrate health care. Like most other clinical decision-making, several early AI applications rely upon…
From - Diagnostic Testing & Emerging Technologies
A group of blood metabolites help detect some children with autism spectrum disorder (ASD), according to a study published…
From - Diagnostic Testing & Emerging Technologies
Preimplantation genetic testing for aneuploidy (PGT-A) can mitigate the negative effects of maternal age on in vitro fertilization (IVF) outcomes by…
From - Diagnostic Testing & Emerging Technologies
"Invisible" blood in stool may predict death from a wide range of causes, not just colorectal cancer, according to a study published July 16 in…
From - Diagnostic Testing & Emerging Technologies
Whole-genome sequencing (WGS) identifies additional genetic causes of hypertrophic cardiomyopathy (HCM) beyond those identified through targeted…
From - Diagnostic Testing & Emerging Technologies
Next-generation sequencing improves definitive diagnoses for children with drug-resistant epilepsy, according to a pilot study published online…
From - Diagnostic Testing & Emerging Technologies
As might be expected, there has been rapid growth in genetic test availability and spending on these tests since 2014. But, comprehensive new collaborative analysis conducted by…
From - Diagnostic Testing & Emerging Technologies
Expanded next-generation sequencing-based carrier screening improves detection of rare and novel pathogenic variants even in…