Discover the importance of understanding neutrophil inclusion bodies in diagnosing MYH9-related disorders and how genetic testing can guide treatment, inform family planning, and…
No sperm reaches the ejaculate because production in the testes is impaired, affecting about 1% of men. Karyotypes, Y microdeletions and MSH4 variants are discussed.
Discover the benefits of genetic testing for oligodontia, a rare dental condition, to ensure accurate diagnosis, personalized treatment, and better family planning.
Benign growth of fibrous tissue and bone in the jaw can cause facial deformity and chewing difficulty; CDC73 mutations link ossifying fibroma to HPT-JT syndrome.
Finger-like papillary structures mark ovarian papillary adenocarcinoma, often found late; BRCA1/2 and BRCAness results inform PARP inhibitor and surgery decisions.
Night blindness and lost peripheral vision mark this inherited retinal degeneration, which can occur with Bardet-Biedl, Kearns-Sayre and Usher syndromes.
Faulty DNA proofreading lets replication errors build up, and this POLE alteration appears in colorectal and endometrial cancers with very high tumor mutation burden.
From Alpers-Huttenlocher syndrome to recessive progressive external ophthalmoplegia, these conditions are confirmed by POLG analysis, which also identifies carriers.