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Glycogen Storage Disease

Glycogen Storage Disease is a group of inherited disorders associated with defects in enzymes involved in glycogen metabolism, causing abnormal storage of glycogen in cells and various symptoms depending on the specific enzyme affected. The test consists of clinical evaluation, biochemical testing, imaging, and genetic testing. Enzyme assays are employed to measure glycogen metabolism’s enzymatic […]

Glycine Test

The glycine test evaluates the levels of glycine, a nonessential amino acid, synthesized from choline, serine, hydroxyproline, and threonine. Its significance lies in its essential role in averting metabolic disorders and cancers. Healthcare professionals utilize this test to detect metabolic disorders such as obesity, type 2 diabetes, and nonalcoholic fatty liver diseases.

Gastrin Level

The serum gastrin level test is employed to diagnose a range of gastric disorders by measuring gastrin, a peptide hormone that targets the gastric fundus and cardiac regions. Gastrin promotes gastric mucosal growth, enhances motility, and stimulates hydrochloric acid secretion. Healthcare professionals use this test to diagnose gastrinoma, Zollinger-Ellison syndrome, gastric and duodenal ulcers, and […]

Galactosaemia Screen

A galactosemia screen detects galactosemia, a rare genetic disorder that affects the body’s ability to metabolize galactose, a sugar found in milk and other dairy products. Elevated levels indicate a problem with galactose metabolism. Early diagnosis with this test helps prevent complications associated with galactosemia in affected individuals.

Gag’s-Urine-Mucopolysaccharides

Gag’s Urine Mucopolysaccharides are a group of mucopolysaccharide components excreted in the urine, which can indicate metabolic disorders related to lysosomal storage diseases. Gag’s urine tests are particular biochemical assays done through quantitative assays or qualitative spot screening tests. Tests help healthcare professionals evaluate the deficiency of enzymes needed to break down glycosaminoglycans or mucopolysaccharides, […]

Fructosamine

The serum fructosamine test evaluates glycated albumin levels to detect diabetes. Serum fructosamine indicates non-enzymatic glycation in circulating proteins, encompassing albumin, globulins, and lipoproteins, offering an alternative to HbA1c, aiding in assessing mean glycemic control over a shorter duration. Healthcare professionals utilize the serum fructosamine test to diagnose, monitor, and manage diabetes.

Free Fatty Acids

The serum-free fatty acid test quantifies free-rich acid concentrations released from lipolysis, crucial in cardiovascular and malignant diseases. Elevated levels correlate with insulin resistance and oxidative stress, essential components in the pathophysiology of heart failure. Healthcare professionals utilize this test to identify metabolic disorders, cardiovascular diseases, and malignancies, guiding appropriate management strategies based on the […]

Fat In Stool-Steatorrhea

The Fat in Stool test diagnoses steatorrhea, characterized by increased fat excretion in stools, resulting in pale, voluminous, and malodorous loose stool production. These conditions can be attributed to exocrine pancreatic insufficiency, a deficiency in bile acids, and diseases affecting the small intestine. This test is considered the gold standard for diagnosing and confirming steatorrhea.

Erythropoietin Level

The Erythropoietin (EPO) Level test measures EPO hormone levels, aiding in diagnosing conditions related to red blood cell production, such as disorders like anemia or polycythemia. Low levels may signal kidney disease or bone marrow issues, while high levels could suggest polycythemia vera or chronic hypoxia.

Urine Cystine

The urine cystine test is conducted to identify hexagonal crystals of urine as part of the diagnostic process for cystinuria. Patients typically exhibit clinical symptoms such as flank pain, loin pain, or fever. Healthcare professionals utilize this test to diagnose cystinuria and distinguish it from other potential causes of chronic kidney disease and pediatric kidney […]