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
Despite the commonly held belief that the food allergy prevalence is rising, food allergies remain poorly studied and…
From - Diagnostic Testing & Emerging Technologies
Child–parent hypercholesterolemia (FH) screening is a practical and effective way of conducting population-based screening to identify the…
From - Diagnostic Testing & Emerging Technologies
With Theranos' recent announcement of its transition away from laboratory operations toward technology development…
From - Diagnostic Testing & Emerging Technologies
Reanalysis of clinical exome data at a two- to three-year interval could result in an incremental 10 percent diagnostic yield…
From - Diagnostic Testing & Emerging Technologies
Patients increasingly prefer to receive laboratory test results via password-protected websites and portals, according to…
From - Diagnostic Testing & Emerging Technologies
Mass spectrometry (MS) is rapidly transitioning from specialized clinical testing—drugs of abuse confirmations, newborn screening, and steroid analysis—to being broadly applied throughout…