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Catechol-O-methyltransferase (COMT) genotyping is a molecular test used to identify genetic variants in the COMT gene, w...
09/03/2026

Catechol-O-methyltransferase (COMT) genotyping is a molecular test used to identify genetic variants in the COMT gene, which encodes an enzyme involved in the metabolism of catecholamines, including dopamine, epinephrine, and norepinephrine. One commonly evaluated variant is Val158Met (rs4680), which can alter COMT enzyme activity and influence catecholamine metabolism. Genotyping may help investigate interindividual differences in neurotransmitter metabolism and has been studied in relation to pain sensitivity, psychiatric conditions, cognition, and response to certain medications. The test is typically performed using DNA extracted from whole blood or buccal specimens, followed by PCR-based or sequencing methods.

MI-2 autoantibodies are myositis-specific antibodies directed against the Mi-2 protein, which plays a role in chromatin ...
09/02/2026

MI-2 autoantibodies are myositis-specific antibodies directed against the Mi-2 protein, which plays a role in chromatin remodeling and gene regulation. They are strongly associated with dermatomyositis, particularly classic dermatomyositis with prominent skin manifestations. Patients may present with proximal muscle weakness, elevated muscle enzymes, heliotrope rash, and Gottron papules. Although anti-Mi-2 antibodies are detected in a relatively small proportion of patients with idiopathic inflammatory myopathies, their presence provides valuable support for dermatomyositis diagnosis and classification. MI-2 antibody testing is commonly included in myositis antibody panels and may help characterize disease phenotype. Anti-Mi-2-positive patients generally have a favorable response to treatment and prognosis.

Metanephrines are metabolites of the catecholamines epinephrine and norepinephrine and are produced continuously in the ...
08/31/2026

Metanephrines are metabolites of the catecholamines epinephrine and norepinephrine and are produced continuously in the body. Metanephrine testing measures metanephrine and normetanephrine in plasma or urine and is primarily used to evaluate suspected pheochromocytoma and paraganglioma (PPGL), tumors that may produce excessive catecholamines. Plasma free metanephrines offer high sensitivity for detecting these tumors, while 24-hour urinary fractionated metanephrines provide an alternative assessment of catecholamine metabolism. Elevated concentrations may indicate a catecholamine-secreting tumor but can also result from physiological stress, acute illness, certain medications, caffeine, or improper specimen collection. For plasma testing, patients should ideally rest in a supine position before blood collection to minimize false-positive results.

Sporothrix antibody testing detects antibodies produced against Sporothrix species, the fungi responsible for sporotrich...
08/29/2026

Sporothrix antibody testing detects antibodies produced against Sporothrix species, the fungi responsible for sporotrichosis. These thermally dimorphic fungi typically enter the body through skin trauma involving contaminated vegetation, soil, or infected animals. Following inoculation, Sporothrix can transition to its yeast form and multiply within tissues, triggering an inflammatory and immune response. Infection most commonly causes lymphocutaneous lesions that spread along lymphatic channels, but pulmonary, osteoarticular, or disseminated disease may occur, particularly in susceptible individuals. Serologic testing may support diagnosis, especially in extracutaneous disease where direct organism detection can be difficult. Results should be interpreted with clinical findings, exposure history, culture, histopathology, and molecular testing.

Phosphatidylserine (PS) antibody testing detects antibodies directed against phosphatidylserine, a negatively charged ph...
08/26/2026

Phosphatidylserine (PS) antibody testing detects antibodies directed against phosphatidylserine, a negatively charged phospholipid found in cell membranes. These antibodies are considered non-criteria antiphospholipid antibodies and may be evaluated in patients with suspected antiphospholipid syndrome (APS), particularly when conventional antiphospholipid antibody tests are negative but clinical features suggest an autoimmune thrombotic disorder. Elevated PS antibodies have been investigated in association with venous or arterial thrombosis, pregnancy complications, and other manifestations of APS. Testing may include IgG and IgM antibody isotypes, depending on the laboratory method. PS antibody testing is generally considered supportive rather than diagnostic alone.

Beta-carotene testing measures the concentration of beta-carotene, a fat-soluble carotenoid and precursor of vitamin A, ...
08/24/2026

Beta-carotene testing measures the concentration of beta-carotene, a fat-soluble carotenoid and precursor of vitamin A, in serum. It is primarily used to assess carotenoid status, evaluate dietary intake, and investigate suspected fat-malabsorption or nutritional disorders. Serum beta-carotene levels may be influenced by dietary consumption of fruits and vegetables, intestinal absorption, lipid metabolism, and liver function. Low concentrations can occur with inadequate dietary intake, malabsorption syndromes, pancreatic insufficiency, or certain gastrointestinal disorders. Elevated levels are commonly associated with high carotenoid intake and may cause carotenemia, characterized by yellow-orange skin discoloration.

Parathyroid hormone (PTH) is a peptide hormone produced by the parathyroid glands and is a key regulator of calcium and ...
08/21/2026

Parathyroid hormone (PTH) is a peptide hormone produced by the parathyroid glands and is a key regulator of calcium and phosphate homeostasis. PTH secretion increases when blood calcium concentrations decrease. It raises serum calcium by increasing renal calcium reabsorption, stimulating bone resorption, and promoting renal production of calcitriol, which enhances intestinal calcium absorption. PTH also decreases renal phosphate reabsorption, increasing phosphate excretion in urine. Measurement of intact PTH is primarily used to evaluate disorders of calcium metabolism, including primary and secondary hyperparathyroidism, hypoparathyroidism, and abnormalities associated with chronic kidney disease. PTH results should be interpreted alongside serum calcium, phosphate, vitamin D, and renal function.

Prealbumin, also known as transthyretin (TTR), is a transport protein synthesized primarily by the liver. It binds and t...
08/20/2026

Prealbumin, also known as transthyretin (TTR), is a transport protein synthesized primarily by the liver. It binds and transports thyroxine (T4) and retinol-binding protein (RBP), thereby contributing to vitamin A transport. Because prealbumin has a short half-life of approximately 2–3 days, serum concentrations change rapidly in response to alterations in protein synthesis and nutritional intake. It is therefore used as an adjunctive marker for assessing and monitoring nutritional status, particularly in hospitalized patients and those receiving nutritional support. Prealbumin is a negative acute-phase reactant, and concentrations decrease with inflammation, infection, liver dysfunction, and malnutrition. Conversely, increased levels may occur with corticosteroid therapy and certain conditions. Genetic TTR variants can destabilize the protein and promote amyloid fibril formation, causing hereditary transthyretin amyloidosis.

Dehydroepiandrosterone sulfate (DHEA-S) is a sulfated steroid hormone produced primarily by the adrenal glands, with sma...
08/18/2026

Dehydroepiandrosterone sulfate (DHEA-S) is a sulfated steroid hormone produced primarily by the adrenal glands, with smaller amounts originating from the go**ds. It serves as a circulating reservoir for DHEA and can be converted into androgens and estrogens in peripheral tissues. DHEA-S testing measures circulating concentrations and is useful for evaluating adrenal androgen production. It is commonly ordered when investigating hirsutism, virilization, premature puberty, menstrual irregularities, or suspected adrenal disorders. Markedly elevated levels may suggest adrenal hyperandrogenism, including an androgen-secreting adrenal tumor, while low concentrations can occur with adrenal insufficiency and reduced adrenal function.

Familial Mediterranean Fever (FMF) is an inherited autoinflammatory disorder caused by pathogenic variants in the MEFV g...
08/13/2026

Familial Mediterranean Fever (FMF) is an inherited autoinflammatory disorder caused by pathogenic variants in the MEFV gene, which encodes the pyrin protein involved in regulating inflammation. MEFV gene mutation analysis detects genetic variants associated with FMF and supports diagnosis, particularly in patients with recurrent unexplained fever and episodes of abdominal, chest, or joint pain. The test can also help identify at-risk family members and support genetic counseling. FMF is typically inherited in an autosomal recessive manner and is more common among individuals of Mediterranean ancestry. Identification of pathogenic variants may facilitate early diagnosis and treatment, potentially reducing complications such as AA amyloidosis.

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