Theory & Practices of Clinical Laboratory
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 …
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: …
Diseases, syndromes, and other disorders caused by mutations or chromosomal abnormalities of one or more genes are known as genetic conditions. Congenital disorders are not caused by genetic defects or chromosomal variations. Rather, problems that arise during embryonic or fetal development or during the delivery process trigger them. One example …
Cystic Fibrosis is a multi-system disease marked by a monogenic condition. While Cystic Fibrosis is mostly a childhood condition, about 5% of adults are diagnosed with it. About 41% of Cystic Fibrosis patients are over the age of 18, and 13% are over the age of 30. The CFTR protein …