Rapid aging in children traces to Lmna gene mutations affecting lamin A. Testing confirms HGPS, separates it from Werner syndrome and supports treatment research.
Ammonia rises when the liver cannot convert it to urea. Inborn errors of metabolism, transient hyperammonemia of the newborn and preconception testing are covered.
Abnormal fibrinogen from FGA, FGB or FGG mutations leaves clots forming poorly, raising bleeding or thrombosis risk; sequencing pinpoints the change.
Discover the importance of genetic testing in diagnosing Iris Hypoplasia, a rare eye disorder, and how it aids in personalized treatment and risk assessment.
Headaches, fatigue, dizziness and rashes after exposure to chemicals or fragrances are reported in IEI, also called Multiple Chemical Sensitivity.
Short stature and slow growth prompt blood tests, pituitary imaging and growth hormone stimulation testing; genetic findings can then shape replacement therapy.
Phagocytes that cannot bind IgG antibodies leave the body open to recurrent infection; immunoglobulin levels, phagocyte function tests and DNA analysis confirm it.
Raised circulating IgA, the antibody that guards mucosal surfaces, has been linked to IgA nephropathy and other disorders, and GWAS points to genetic regulation.