Category: MMLT

Introduction DiGeorge Syndrome (DGS) is a genetic disorder caused by a deletion on chromosome 22 (22q11.2 deletion). It affects the development of the thymus, parathyroid glands, and heart, leading to Read More ……..

Introduction Down Syndrome (Trisomy 21) is a genetic disorder caused by having an extra copy of chromosome 21. Normally, every person has 46 chromosomes (23 pairs). In Down’s Syndrome, there Read More ……..

Introduction Cancer is a genetic disease caused by mutations in genes that control normal cell growth, division, and death. These mutations can be inherited (germline) or acquired (somatic) due to Read More ……..

Introduction Lesch–Nyhan Syndrome (LNS) is a rare inherited metabolic disorder that primarily affects males and is caused by a defect in purine metabolism. It results from a deficiency of the Read More ……..

Introduction Homocystinuria is an inborn error of metabolism characterized by excessive accumulation of homocysteine and its metabolites in blood and urine. It is primarily caused by defects in the methionine Read More ……..