Brief lapses in awareness that resemble daydreaming can occur many times a day; rat models such as WAG/Rij and GAERS point to P2X7, NMDA and oxidative pathways.
Too little GnRH can delay puberty and cause infertility; findings on SEMA3E, KISS1, KISS1R and MKRN3 show how testing confirms a suspected genetic cause.
Discover Heimler Syndrome 1, a rare genetic disorder, and learn how genetic testing plays a crucial role in diagnosis, treatment, and support for affected individuals.
Sensorineural hearing loss, underdeveloped tooth enamel, nail changes and retinal dystrophy follow mutations in the PEX1, PEX6 or PEX26 genes.
Mismatch repair mutations in MLH1, MSH2, MSH6, PMS2 or RPS20 and microsatellite instability point to HNPCC, though results may be negative or of uncertain significance.
Altered apolipoprotein E, APOE2, slows clearance of cholesterol-rich lipoproteins. Xanthomas, VLDL and IDL findings, and what APOE testing adds are described.
Cells that cannot respond to interferon-gamma leave patients prone to mycobacterial infection; IFNGR1 testing separates complete from partial deficiency.
When platelets respond poorly to ADP, bleeding can be prolonged and bruising easy; aggregation tests, P2Y12 assessment and clopidogrel response are covered.