Theory & Practices of Clinical Laboratory
Non-Invasive Prenatal Testing (NIPT) has changed the way prenatal care is done. It provides expectant parents with important genetic information about their unborn child through a simple blood test. This innovative screening method analyzes small fragments of DNA from the fetus that are present in the mother’s blood to detect …
Craniofacial disorders entail a wide spectrum of issues affecting the anatomy and development of the skull and face. These abnormalities, ranging from cleft lip and palate to craniosynostosis and Treacher-Collins syndrome, can have serious physical and mental consequences. Understanding the genetic links underlying craniofacial abnormalities is critical for proper diagnosis, …
Spinal muscular atrophy (SMA) is a rare autosomal recessive neuromuscular disorder characterized by the loss of lower motor neurons (anterior horn cells) in the spinal cord and brainstem nuclei, resulting in progressive muscle weakening and atrophy. The severity and age at onset differ considerably. SMA was initially documented in the …
Thalassemia is a spectrum of genetic conditions in which one or more globin genes are defective, resulting in reduced or deficient synthesis of the related globin chains. Patients with minor genetic abnormalities are usually asymptomatic. Patients with more severe abnormalities have symptoms caused by one or more of the following: …
Genetic conditions are disorders caused by mutations in one or more genes or by abnormalities in chromosomes. In contrast, congenital disorders are not always genetic in origin. They may result from complications during embryonic or fetal development or from issues that occur during the birth process. An example of a …
Cystic Fibrosis (CF) is a complex multi-system disease caused by mutations in the CFTR gene. It predominantly affects children, but about 41% of patients are adults, with 13% over 30 years old. Genetic testing and advancements in therapies are pivotal for diagnosis and treatment. Key CFTR Gene Facts CFTR Gene Mutations and …