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.
The language of DNA, genes, chromosomes and inheritance.
Understand genetic tests, their possibilities and their limits.
Explore methods, emerging technologies and the evidence behind discovery.
Pregnancy, childhood, inherited conditions and the diagnostic journey.
Inherited predisposition, tumour testing and the questions that connect them.
Phenotypes, variants and genomic analysis for health professionals.
News and studies from original sources. Follow the headline for the full context.
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.
Discuss scope, choice and follow-up before sequencing uncovers a medically actionable result unrelated to the original question.
A test can accurately detect the changes it was designed to find while missing others. Scope, coverage and sample choice help explain what a negative result means.
A high percentile is not an absolute risk, and strong association does not establish that using a score improves care.
Longer molecules can clarify structural variation and difficult regions, but analytical validation and study design still determine diagnostic value.
Cell atlases reveal biological heterogeneity, but meaningful disease comparisons require sound sampling, batch handling and independent replication.
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.
An October 2026 NCI retrospective revisits RAS drug discovery. The foundational KRAS G12C study shows why molecular selectivity and clinical benefit require different evidence.
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.
Acute intermittent porphyria affects heme production. Chemical testing helps investigate an attack, while genetic testing identifies inherited susceptibility and informs family assessment.
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.
Start with a question. Explore a topic. Follow the evidence.
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