Genetic testing has become more and more common in recent years, with advancements in technology and our understanding of genetics. There are different types of genetic tests that can be conducted, including genetic screening tests and genetic diagnostic tests. While…
Dent disease, also known as nephrolithiasis, is a rare genetic disorder that affects the kidneys. It is characterized by the presence of dents, or small holes, in the tubules of the kidneys. These dents disrupt the normal function of the…
The UBE3B gene is a gene that is associated with UBE3B syndrome. This gene is tagged as “UBE3B” and can be found on chromosome 12. UBE3B syndrome is a rare genetic disorder that is caused by mutations or damage to…
CLN8 disease is a rare genetic condition that falls under the category of diseases called ceroid lipofuscinoses (CLNs). There are many different forms of CLNs, each associated with certain signs and symptoms. CLN8 disease is thought to occur due to…
The PYGL gene, also known as the glycogen phosphorylase L gene, is responsible for encoding the enzyme glycogen phosphorylase, which plays a crucial role in the breakdown of glycogen into glucose-1-phosphate. This type of sugar is then used as an…
The DSPP gene, also known as dentin sialophosphoprotein, is a scientific term that refers to a gene associated with various dental diseases. These diseases are characterized by abnormal development or structure of tooth dentin, which can lead to conditions such…
CLN10 disease, also known as congenital ceroid lipofuscinosis, is a rare genetic disorder that affects the nervous system. It is one of many conditions caused by a loss of function in genes associated with lysosomes, the cell’s waste disposal system.…
X-linked lissencephaly with abnormal genitalia (XLAG) is a rare genetic disorder that affects males. It is characterized by lissencephaly, which is the absence of normal grooves in the brain, and abnormal development of the genitalia. The condition is caused by…
The COL5A1 gene is a genetic component that plays a significant role in various scientific and health aspects. It is responsible for encoding the alpha 1 chain of type V collagen. Additional genetic testing of the COL5A1 gene in patients…
The HPD gene provides instructions for making an enzyme called 4-hydroxyphenylpyruvate dioxygenase. This enzyme is active in the liver and is involved in the breakdown of a protein building block (amino acid) called tyrosine. Tyrosine is found in many foods,…