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24 articles
DPYD testing can identify an important cause of severe fluoropyrimidine toxicity. Interpreting the result requires attention to test coverage, enzyme function and the continuing need for clinical monitoring.
Testing relatives for a known pathogenic variant can clarify inherited risk. The original report, family context and follow-up plan determine how useful the result becomes.
An NCI research agenda highlights living-cell drug testing alongside genomics. A pediatric feasibility study shows why useful laboratory results still require stronger clinical evidence.
A pathogenic variant detected in blood may be acquired in blood-forming cells. Establishing its origin can change cancer-risk assessment, family testing and specimen selection.
A cancer sequencing result may guide treatment, raise an inherited-risk question, or both—but it cannot be interpreted without knowing the sample and test.
Acute intermittent porphyria affects heme production. Chemical testing helps investigate an attack, while genetic testing identifies inherited susceptibility and informs family assessment.
SMN2 copy number helps explain variation in SMN1-related spinal muscular atrophy. Researchers must distinguish that association from diagnosis, individual prognosis and treatment response.
A DMPK repeat expansion establishes the genetic diagnosis, but muscle findings alone cannot define the clinical burden. Cardiac, respiratory and family assessments remain central.
A TTR variant, amyloid deposits and organ dysfunction answer different clinical questions. Interpreting them together helps distinguish inherited susceptibility from established disease.
GJB2 is an important hearing-loss gene, but different variants can have different effects. Understanding the result requires attention to inheritance, hearing assessments and uncertainty.
Marfan syndrome can affect the aorta, eyes and skeleton. Genetic testing helps clarify the diagnosis, while clinical assessment and monitoring establish what care is needed.
DICER1 links RNA processing to a distinctive tumor spectrum. For researchers, meaningful risk estimates depend on age, recruitment and whether an outcome includes benign growths.