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2 articles 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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ResearchBIORXIVMar 27

Preprint: Long-Term Healthcare Utilization After Genomic Diagnosis in Seriously Ill Children

Researchers studied how getting a genetic diagnosis through whole genome sequencing (a test that reads all of a person's genes) affects how much healthcare seriously ill children need over time. They looked at medical records from children in the UK between 2016 and 2020 to see if knowing the genetic cause of their illness changed how often they visited doctors, went to the hospital, or needed other medical care.

WHY IT MATTERSIf you have a seriously ill child undergoing genetic testing, this research will help show whether getting a diagnosis actually changes how your child's care is managed and how often you'll need medical visits going forward.
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