Pap Smear
A Pap smear, often called a Pap test, is a procedure used to screen for cervical cancer in women. It is an important part of routine healthcare for women, as it can detect any changes in the cells of the…
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McCune-Albright syndrome
McCune-Albright Syndrome is a rare genetic disorder that affects multiple areas of the body. It is also known by other names, such as McCune-Albright syndrome with polyostotic fibrous dysplasia, endocrine dysfunction, and cafè-au-lait macules, or simply McCune-Albright. The condition was…
GJB1 gene
The GJB1 gene, also known as Connexin-32, is a gene located on the X chromosome. It is responsible for encoding a protein that forms gap junctions, specialized channels in the membrane of nerves. These channels allow for the transmission of…
Sepiapterin reductase deficiency
Sepiapterin reductase deficiency is a rare genetic condition that affects the production of a chemical called sepiapterin. This deficiency can cause a variety of symptoms that typically affect the brain, such as movement disorders, mood swings, and abnormal serotonin and…
Numbness in Left Arm
Numbness in the left arm is a condition that can be caused by various factors, ranging from mild to severe. It is often described as a tingling or “pins and needles” sensation. While it is commonly associated with arm or…
Total Protein and AlbuminGlobulin AG Ratio
Total protein is a crucial component of your body’s health. It is responsible for maintaining a balance of fluids in your blood, transporting nutrients, and aiding in the growth and repair of tissues. Total protein levels can fluctuate, indicating various…
LARGE1 gene
The LARGE1 gene is a gene that has been associated with various syndromes and diseases. It is one of the many genes that are responsible for the development and functioning of the body. The LARGE1 gene is also known as…
SERPINI1 gene
SERPINI1 gene, also known as neuroserpin, is a member of the serpin superfamily. It is a gene involved in the development of severe neurological conditions such as epilepsy and familial encephalopathy with neuroserpin inclusion bodies. This gene encodes for the…
SALL1 gene
The SALL1 gene is responsible for making a protein that plays a crucial role in normal development. Variant forms of this gene are tightly linked to a number of genetic conditions, including Townes-Brocks syndrome and associated anomalies of the urinary…
Glycogen storage disease type IV
Glycogen storage disease type IV Glycogen storage disease type IV, also known as glycogenosis type IV or Andersen disease, is a rare genetic condition characterized by the accumulation of abnormal glycogen in tissues throughout the body. This disease is caused…