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1 article from the last 30 days matching "genetic diagnosis"

ResearchPUBMEDApr 14

Characterisation of Urine-Derived Cells for the Molecular Diagnosis of Rare Disorders.

Scientists discovered that cells found in urine can be grown in the lab and used to diagnose genetic diseases. These urine cells come from a specific part of the kidney called the glomerulus, and they have special properties that make them useful for testing. This method could make genetic diagnosis easier because urine is simple to collect compared to other tissue samples.

WHY IT MATTERSIf your child needs genetic testing for a rare disorder, this research suggests urine samples could eventually replace more invasive procedures like blood draws or biopsies for molecular diagnosis.
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