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Symptoms and Testing information for LIPA Gene Wolman disease Genetic Test

Wolman Disease, a rare and serious genetic disorder, arises from mutations in the LIPA gene, which plays a crucial role in the body’s ability to break down certain fats. This condition, if not diagnosed and managed promptly, can lead to severe and life-threatening complications. DNA Labs UAE offers a comprehensive genetic test specifically designed to

Symptoms and Testing information for ABCA3 Gene Surfactant metabolism dysfunction type 3 Genetic Test

At DNA Labs UAE, we are dedicated to providing comprehensive genetic testing services to help individuals and families understand their genetic health. One of the critical tests we offer is for the ABCA3 gene surfactant metabolism dysfunction type 3. This particular genetic condition can lead to severe respiratory distress shortly after birth, among other health

Symptoms and Testing information for GM2A Gene Tay-Sachs disease AB variant Genetic Test

— Tay-Sachs Disease is a rare, inherited disorder that primarily affects the nerve cells in the brain and spinal cord. It is a form of a group of genetic conditions known as the GM2 gangliosidoses, which involve the accumulation of toxic substances in the brain’s nerve cells, leading to their progressive dysfunction. One variant of

Symptoms and Testing information for GSTZ1 Gene Tyrosinemia type 1B Genetic Test

— Symptoms of GSTZ1 Gene Tyrosinemia Type 1B Genetic Test Tyrosinemia Type 1B is a rare genetic disorder that affects the body’s ability to break down the amino acid tyrosine, leading to a buildup of toxic substances in the liver, kidneys, and brain. This condition is caused by mutations in the GSTZ1 gene. Understanding the

Symptoms and Testing information for HEXB Gene Sandhoff Disease Genetic Test

Sandhoff disease is a rare, inherited disorder that falls under the category of lysosomal storage diseases. It is characterized by the progressive deterioration of nerve cells in the brain and spinal cord. The disease is caused by mutations in the HEXB gene, which leads to the deficiency of the enzymes beta-hexosaminidase A and beta-hexosaminidase B.

Symptoms and Testing information for SUOX Gene Sulfite oxidase deficiency Genetic Test

Sulfite oxidase deficiency is a rare genetic disorder that affects the body’s ability to process sulfur-containing foods and beverages. This condition is caused by mutations in the SUOX gene, which plays a critical role in the enzyme sulfite oxidase’s function. Sulfite oxidase is essential for converting sulfites into safer sulfates, which the body can easily

Symptoms and Testing information for GAA Gene Pompe Disease Genetic Test

Pompe Disease, also known as Glycogen Storage Disease Type II, is a rare and often fatal genetic disorder that affects the heart and skeletal muscles, leading to progressive muscle weakness and respiratory distress. It is caused by mutations in the GAA gene, which is responsible for producing an enzyme called acid alpha-glucosidase (GAA). This enzyme

Symptoms and Testing information for PCCA Gene Propionic Acidemia Genetic Test

Propionic Acidemia is a rare genetic disorder caused by the deficiency of the propionyl-CoA carboxylase enzyme. This enzyme plays a crucial role in breaking down certain proteins and fats in the body. The deficiency leads to an accumulation of propionic acid, which can be toxic and cause serious health issues. The condition is inherited in

Symptoms and Testing information for PCCB Gene Propionic Acidemia Genetic Test

Symptoms of PCCB Gene Propionic Acidemia Genetic Test Propionic Acidemia is a rare genetic disorder caused by the deficiency of the PCCB gene, which is essential for breaking down certain parts of proteins and lipids. Without proper function of this gene, harmful amounts of organic acids can accumulate in the body, leading to severe health