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SMAD4 gene mutation analysis is a molecular diagnostic test used to identify pathogenic variants in the SMAD4 tumor supp...
02/04/2026

SMAD4 gene mutation analysis is a molecular diagnostic test used to identify pathogenic variants in the SMAD4 tumor suppressor gene, a key mediator of the TGF-β signaling pathway. SMAD4 plays a crucial role in regulating cell growth, differentiation, and apoptosis. Mutations in this gene are commonly associated with pancreatic ductal adenocarcinoma, colorectal cancer, and juvenile polyposis syndrome. The analysis is typically performed using next-generation sequencing on tumor tissue or peripheral blood samples. Detection of SMAD4 alterations provides valuable prognostic information, as loss of SMAD4 function is linked to aggressive tumor behavior and poor clinical outcomes. Additionally, SMAD4 mutation status can aid in hereditary cancer risk assessment and guide patient management strategies.

🚀 Big news! Our latest update introduces direct mapping of antimicrobial resistance (ABR) genes to pathogens, a breakthr...
02/03/2026

🚀 Big news! Our latest update introduces direct mapping of antimicrobial resistance (ABR) genes to pathogens, a breakthrough that enhances the precision and power of our platform.

We’re proud to be among the first to achieve this milestone in linking resistance data to specific pathogens, driving smarter and faster clinical insights.

Myelin Associated Glycoprotein (MAG) antibody is an autoantibody directed against MAG, a glycoprotein on Schwann cells a...
01/30/2026

Myelin Associated Glycoprotein (MAG) antibody is an autoantibody directed against MAG, a glycoprotein on Schwann cells and oligodendrocytes essential for myelin maintenance and axon–myelin interaction. Anti-MAG peripheral neuropathy is an autoimmune neurologic disorder caused by monoclonal IgM antibodies targeting Schwann cells, accounting for approximately 10% of peripheral neuropathy cases. These antibodies bind the external domain of MAG, disrupt signaling cascades involved in myelin formation, and lead to demyelination, with antibody titers correlating with disease severity. Clinically, patients develop slowly progressive, symmetric distal sensory ataxia, muscle weakness, tremor, and gait difficulty. Anti-MAG antibodies are often associated with IgM monoclonal gammopathy or Waldenström macroglobulinemia. Diagnosis aids disease classification, and treatment includes supportive therapy and targeted drugs that reduce antibody production and plasma cells. Learn more about the testing with Medical Database.
https://app.medicaldatabase.com/site/medical-tests/55c84700-1a64-494a-ad34-c9aacd6c7e1d

Signal Recognition Particle (SRP) antibodies are autoantibodies directed against the signal recognition particle, a cyto...
01/29/2026

Signal Recognition Particle (SRP) antibodies are autoantibodies directed against the signal recognition particle, a cytoplasmic ribonucleoprotein complex essential for targeting newly synthesized proteins to the endoplasmic reticulum. The presence of SRP antibodies is strongly associated with immune-mediated necrotizing myopathy (IMNM), a subtype of inflammatory myopathy characterized by severe muscle weakness and elevated creatine kinase levels. SRP antibody testing is primarily performed using immunoassays such as ELISA or immunoprecipitation. Clinically, detection of SRP antibodies helps in diagnosis, prognostication, and guiding therapy, as patients often require aggressive immunosuppressive treatment. SRP antibody positivity is relatively rare but is an important biomarker distinguishing IMNM from other autoimmune myopathies like dermatomyositis or polymyositis. Learn more about the testing with Medical Database.
https://app.medicaldatabase.com/site/medical-tests/55d8d72b-6829-4d69-9284-fb75e412ec0f

LDS®Rx® is a user-friendly analytical tool that employs a sophisticated algorithm to interpret syndromic panels and anti...
01/28/2026

LDS®Rx® is a user-friendly analytical tool that employs a sophisticated algorithm to interpret syndromic panels and antibiotic resistance, generating real-time, guideline-oriented pharmacotherapeutic recommendations according to detected microbial load and antimicrobial resistance genes. Learn more about our products:
www.medicaldatabase.com

Survival of Motor Neuron 1 (SMN1) mutation analysis is a key genetic test used in the diagnosis and carrier screening of...
01/27/2026

Survival of Motor Neuron 1 (SMN1) mutation analysis is a key genetic test used in the diagnosis and carrier screening of spinal muscular atrophy (SMA), a severe autosomal recessive neuromuscular disorder. The SMN1 gene, located on chromosome 5q13, is essential for motor neuron survival and function. Most SMA cases result from homozygous deletions of exon 7, with or without exon 8, in the SMN1 gene. Molecular testing is typically performed using quantitative PCR, MLPA, or next-generation sequencing to determine SMN1 copy number and identify pathogenic variants. SMN1 mutation analysis supports early diagnosis, guides prognosis, informs reproductive counseling, and enables timely initiation of disease-modifying therapies, which significantly improve clinical outcomes. Learn more about the testing with Medical Database.
https://app.medicaldatabase.com/site/medical-tests/559e27f4-14da-462a-9476-44fb113be342

Splicing Factor 3b Subunit B1 (SF3B1) gene mutation analysis evaluates alterations in a core component of the U2 small n...
01/23/2026

Splicing Factor 3b Subunit B1 (SF3B1) gene mutation analysis evaluates alterations in a core component of the U2 small nuclear ribonucleoprotein complex, which is essential for pre-mRNA splicing. Recurrent heterozygous missense mutations, most commonly at hotspot codons such as K700E, disrupt normal splice site recognition and lead to aberrant RNA splicing. SF3B1 mutations are frequently identified in myelodysplastic syndromes with ring sideroblasts, chronic lymphocytic leukemia, and uveal melanoma. Molecular analysis is typically performed using next-generation sequencing panels, with Sanger sequencing for confirmation. Detection of SF3B1 mutations has important diagnostic and prognostic value and may inform disease classification, risk stratification, and emerging targeted therapeutic strategies. Learn more about the testing with Medical Database.
https://app.medicaldatabase.com/site/medical-tests/63b76e40-fcf4-4462-8486-cb8b7d7f89f9

Gaucher disease mutation analysis focuses on identifying pathogenic variants in the GBA gene, which encodes the lysosoma...
01/22/2026

Gaucher disease mutation analysis focuses on identifying pathogenic variants in the GBA gene, which encodes the lysosomal enzyme β-glucocerebrosidase. Deficiency of this enzyme leads to accumulation of glucocerebroside within macrophages, causing Gaucher disease. Molecular testing typically involves sequencing of the GBA gene to detect missense, nonsense, splice-site variants, and small insertions or deletions, with special attention to differentiation from the highly homologous GBAP1 pseudogene. Common mutations include N370S, L444P, and 84GG, though variant distribution varies by ethnicity. Mutation analysis confirms diagnosis, supports disease subtype classification, enables carrier detection, and facilitates genetic counseling. Results may also inform prognosis and therapeutic decisions, including suitability for enzyme replacement or substrate reduction therapy.

RARα (retinoic acid receptor alpha) mutations are most clinically significant in acute promyelocytic leukemia (APL). In ...
01/21/2026

RARα (retinoic acid receptor alpha) mutations are most clinically significant in acute promyelocytic leukemia (APL). In classic APL, a chromosomal translocation t(15;17) creates the PML–RARA fusion gene, which disrupts normal RARα signaling. This abnormal receptor represses transcription of genes required for myeloid differentiation, leading to accumulation of immature promyelocytes. Point mutations within the RARα ligand-binding domain can also occur, particularly in relapsed disease, and may confer resistance to all-trans retinoic acid (ATRA) therapy. Functionally, RARα mutations impair retinoic acid–dependent transcription and alter interactions with co-repressors and co-activators. Understanding RARα mutations has been crucial for targeted APL treatment, as therapies such as ATRA and arsenic trioxide specifically overcome the differentiation block caused by abnormal RARα signaling. Learn more about the testing with Medical Database.
https://app.medicaldatabase.com/site/medical-tests/559e27c8-c67c-4e6b-8f4e-3878fd2996eb

Lysozyme (muramidase) is a naturally occurring antimicrobial enzyme found in body fluids such as saliva, tears, urine, a...
01/16/2026

Lysozyme (muramidase) is a naturally occurring antimicrobial enzyme found in body fluids such as saliva, tears, urine, and serum. In serum, lysozyme is produced mainly by neutrophils and monocytes and plays a key role in innate immunity by breaking down the peptidoglycan layer of bacterial cell walls, particularly in gram-positive bacteria. Measurement of serum lysozyme levels has clinical significance in certain hematologic and inflammatory conditions. Elevated levels are commonly seen in monocytic and myelomonocytic leukemias, sarcoidosis, tuberculosis, and other chronic inflammatory states. Increased serum lysozyme may also contribute to renal tubular damage due to its filtration and reabsorption in the kidneys. Thus, serum lysozyme serves as a useful adjunct biomarker in diagnosis and disease monitoring.
https://app.medicaldatabase.com/site/medical-tests/5754c331-001e-40b2-9fc8-55ce79a9f2e8

The Kell blood group system is one of the major human blood group systems, comprising antigens carried on the Kell glyco...
01/14/2026

The Kell blood group system is one of the major human blood group systems, comprising antigens carried on the Kell glycoprotein encoded by the KEL gene on chromosome 7. The most clinically important antigens are K (Kell) and k (Cellano), with anti-K antibodies being highly immunogenic. Kell antigens are expressed early on red blood cell precursors, making them significant in transfusion medicine. Clinically, anti-K antibodies can cause severe hemolytic transfusion reactions and hemolytic disease of the fetus and newborn (HDFN), often by suppressing fetal erythropoiesis rather than causing direct hemolysis. Therefore, Kell antigen matching is essential in transfusion-dependent patients and in prenatal screening to prevent adverse outcomes.

Anti-DNase B antibody is an immunoglobulin produced by the immune system in response to deoxyribonuclease B (DNase B), a...
01/13/2026

Anti-DNase B antibody is an immunoglobulin produced by the immune system in response to deoxyribonuclease B (DNase B), an enzyme secreted by Streptococcus pyogenes (group A streptococcus). Measurement of anti-DNase B levels is used to detect recent streptococcal infections, particularly when throat cultures are negative or infection occurred weeks earlier. Unlike antistreptolysin O (A*O), anti-DNase B antibodies are more consistently elevated following skin infections such as impetigo. Elevated titers support the diagnosis of post-streptococcal complications, including acute rheumatic fever and post-streptococcal glomerulonephritis. Anti-DNase B testing is often performed alongside A*O testing to improve diagnostic sensitivity. Results should be interpreted in the context of clinical findings and rising antibody titers over time.

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