Hearing that fades from childhood or early adulthood has been tied to mitochondrial DNA, SMPX, TECTA and NDRG1 variants, and testing can also flag relatives.
Slow breakdown of the antimalarial proguanil has been linked to variation in the CYP2B11 gene, which testing can identify before treatment failure occurs.
Properdin, a protein that helps the body fight Neisseria meningitidis, is faulty or scarce here; CFP gene testing confirms type II and identifies carriers.
A single T to G change in exon 9 swaps tyrosine for aspartic acid, leaving properdin dysfunctional; testing confirms type III and supports prenatal options.
Low potassium and reduced sensitivity to glucocorticoids accompany atypical sexual development in girls; cortisol, ACTH and electrolyte tests come before gene analysis.
Discover the role of genetic testing in understanding reduced delayed hypersensitivity, its diagnosis, personalized treatment, and prenatal screening for better health outcomes.
At least six HCV genotypes let the virus mutate around direct-acting antivirals, so identifying resistance-associated mutations guides regimen choice and monitoring.
A genome-wide meta-analysis has tied 493 variants to resting heart rate, and loss of the mitochondrial enzyme DLST lowered heart rate in zebrafish studies.