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VDRL testing in cerebrospinal fluid (CSF) is a nontreponemal assay used to support the diagnosis of neurosyphilis caused...
10/16/2026

VDRL testing in cerebrospinal fluid (CSF) is a nontreponemal assay used to support the diagnosis of neurosyphilis caused by Treponema pallidum. The infection can invade the central nervous system, triggering inflammation and tissue injury that may affect the meninges, brain, and spinal cord. CSF-VDRL detects antibodies against lipoidal antigens released during cellular damage and associated with the infection. A reactive CSF-VDRL result, in the absence of significant blood contamination, is highly specific for neurosyphilis and provides strong diagnostic evidence. However, its limited sensitivity means a nonreactive result does not exclude the disease. Results should be interpreted alongside neurological findings, serum syphilis serology, CSF cell count, protein levels, and clinical history to guide diagnosis and treatment.

GLA gene mutation analysis is a genetic test used to identify variants in the GLA gene, which encodes the enzyme alpha-g...
10/15/2026

GLA gene mutation analysis is a genetic test used to identify variants in the GLA gene, which encodes the enzyme alpha-galactosidase A. Pathogenic variants can cause Fabry disease, an X-linked lysosomal storage disorder characterized by the accumulation of globotriaosylceramide (Gb3) and related substrates in cells. This progressive condition may affect the kidneys, heart, nervous system, and skin, causing symptoms such as neuropathic pain, angiokeratomas, gastrointestinal disturbances, and impaired sweating. Genetic testing supports diagnosis, particularly in females who may have normal enzyme activity despite carrying a pathogenic variant. It also helps identify affected family members, guide genetic counseling, and inform treatment decisions, including enzyme replacement therapy or pharmacological chaperone therapy for eligible patients.

CPOX gene mutation analysis detects variants in the coproporphyrinogen oxidase (CPOX) gene, which encodes an enzyme esse...
10/13/2026

CPOX gene mutation analysis detects variants in the coproporphyrinogen oxidase (CPOX) gene, which encodes an enzyme essential for heme biosynthesis. Pathogenic variants in CPOX can cause hereditary coproporphyria, a rare acute hepatic porphyria characterized by impaired heme production and accumulation of porphyrin precursors. Clinical manifestations may include severe abdominal pain, nausea, neurological disturbances, psychiatric symptoms, and, in some cases, photosensitivity. Genetic testing can help confirm a suspected diagnosis, identify disease-associated variants, and support family screening and genetic counseling. Testing is particularly useful when biochemical findings suggest hereditary coproporphyria or when a family history indicates inherited risk.

Tumor Suppressor Gene TP53 Mutation Analysis evaluates alterations in the TP53 gene, which encodes the p53 protein respo...
10/12/2026

Tumor Suppressor Gene TP53 Mutation Analysis evaluates alterations in the TP53 gene, which encodes the p53 protein responsible for regulating cell cycle progression, DNA repair, apoptosis, and genomic stability. TP53 mutations can impair these protective mechanisms, allowing abnormal cells to survive and proliferate, contributing to cancer development and progression. This analysis may be performed on tumor tissue or other appropriate specimens using molecular methods such as next-generation sequencing (NGS) or targeted sequencing. TP53 mutation status can provide clinically relevant information for tumor characterization, prognostic assessment, and treatment planning in selected malignancies, including myeloid neoplasms and various solid tumors.

Interleukin-2 (IL-2) receptor testing measures soluble IL-2 receptor alpha (sIL-2R, also known as CD25) in blood to asse...
10/09/2026

Interleukin-2 (IL-2) receptor testing measures soluble IL-2 receptor alpha (sIL-2R, also known as CD25) in blood to assess immune system activation. IL-2 receptors are expressed on activated T lymphocytes and regulatory T cells, playing an important role in immune regulation and cellular proliferation. Elevated soluble IL-2 receptor levels may indicate increased immune activation and are associated with conditions such as hemophagocytic lymphohistiocytosis (HLH), lymphoma, autoimmune disorders, and certain infections. Testing can support the evaluation of suspected HLH, help assess disease activity, and monitor treatment response in selected clinical settings. However, elevated results are nonspecific and must be interpreted alongside clinical findings, laboratory parameters, and other diagnostic investigations.

17-Hydroxypregnenolone is a steroid hormone precursor produced primarily in the adrenal glands and go**ds. It is an inte...
10/06/2026

17-Hydroxypregnenolone is a steroid hormone precursor produced primarily in the adrenal glands and go**ds. It is an intermediate in the biosynthesis of cortisol, androgens, and other steroid hormones. Serum 17-hydroxypregnenolone testing can help evaluate disorders of adrenal steroidogenesis and identify abnormalities in steroid hormone pathways. Measurement may be useful when investigating congenital adrenal hyperplasia, particularly defects involving enzymes that alter pregnenolone and downstream steroid production. It can also support the evaluation of adrenal insufficiency, androgen excess, or unusual patterns of steroid hormone production. Results should be interpreted alongside clinical findings and other adrenal and gonadal hormones, such as cortisol, ACTH, DHEA-S, 17-hydroxyprogesterone, and testosterone.

11-Dehydro-Thromboxane B2 (11-dehydro-TXB2) is a stable urinary metabolite of thromboxane A2 (TXA2), a potent mediator o...
10/06/2026

11-Dehydro-Thromboxane B2 (11-dehydro-TXB2) is a stable urinary metabolite of thromboxane A2 (TXA2), a potent mediator of platelet activation, vasoconstriction, and thrombosis. Because TXA2 is rapidly hydrolyzed and difficult to measure directly, urinary 11-dehydro-TXB2 provides a practical indicator of systemic thromboxane generation in vivo. Measurement may be useful for evaluating platelet activation and assessing biochemical response to antiplatelet therapy, particularly aspirin. Elevated urinary 11-dehydro-TXB2 concentrations have been associated with increased thrombotic and cardiovascular risk in various clinical settings. Testing is performed using a urine specimen and may complement platelet function assays when investigating persistent thromboxane production or inadequate pharmacologic suppression.

KRAS Gene Mutation Analysis is a molecular diagnostic test used to identify activating variants in the KRAS gene, which ...
10/02/2026

KRAS Gene Mutation Analysis is a molecular diagnostic test used to identify activating variants in the KRAS gene, which encodes a GTPase involved in regulating cell proliferation, differentiation, and survival. KRAS mutations are frequently associated with colorectal, pancreatic, and non-small cell lung cancers and can contribute to uncontrolled tumor growth. Testing typically analyzes tumor tissue or other validated specimens using methods such as real-time PCR, allele-specific PCR, next-generation sequencing, or other molecular techniques. Detection of specific KRAS variants can provide clinically relevant information for tumor classification, prognosis, and therapeutic decision-making. In colorectal cancer, KRAS mutation status is particularly important because activating KRAS mutations are associated with lack of response to anti-EGFR therapies. Results should be interpreted alongside tumor histology, clinical findings, and other molecular biomarkers.

Leukotriene E4 (LTE4) is a stable urinary metabolite of cysteinyl leukotrienes, which are potent inflammatory mediators ...
10/01/2026

Leukotriene E4 (LTE4) is a stable urinary metabolite of cysteinyl leukotrienes, which are potent inflammatory mediators derived from arachidonic acid through the 5-lipoxygenase pathway. LTE4 is produced from leukotriene C4 and leukotriene D4 and is excreted in urine, making urinary LTE4 a useful noninvasive biomarker of cysteinyl leukotriene production. Measurement of urinary LTE4 may support evaluation of patients at risk for mast cell activation syndrome (eg, systemic mastocytosis, IgE-mediated allergies, or aspirin-exacerbated respiratory disease. Elevated levels can reflect increased leukotriene pathway activity and may correlate with disease severity or inflammatory responses in selected clinical settings. Testing can be useful when assessing suspected mastocytosis or monitoring leukotriene-mediated inflammation.

PAX2 immunohistochemistry is a tissue-based assay that detects expression of the paired box gene 2 (PAX2) protein in for...
09/29/2026

PAX2 immunohistochemistry is a tissue-based assay that detects expression of the paired box gene 2 (PAX2) protein in formalin-fixed, paraffin-embedded tissue specimens. PAX2 is a nuclear transcription factor involved in embryologic development of the kidney, Müllerian tract, and related structures. Immunohistochemical evaluation of PAX2 expression can support the identification and classification of tumors with Müllerian or renal origin. It is particularly useful in the differential diagnosis of gynecologic and renal neoplasms, including ovarian, endometrial, and renal tumors, when interpreted alongside morphology and other immunohistochemical markers. Nuclear staining is evaluated in tumor cells and compared with appropriate internal and external controls.

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