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We provide reliable and updated medical information to healthcare providers, insurance companies, and educational institutions and assist healthcare providers in making appropriate clinical decisions, meeting medical necessity, and maintaining compliance

PTEN gene mutation analysis evaluates alterations in the PTEN tumor suppressor gene, which regulates cell growth, surviv...
12/18/2025

PTEN gene mutation analysis evaluates alterations in the PTEN tumor suppressor gene, which regulates cell growth, survival, and the PI3K/AKT/mTOR signaling pathway. Loss-of-function PTEN mutations lead to uncontrolled cellular proliferation and are implicated in multiple malignancies, including breast, endometrial, prostate, and glioblastoma, as well as hereditary cancer syndromes such as PTEN hamartoma tumor syndrome (Cowden syndrome). Molecular testing is typically performed using next-generation sequencing on tumor tissue or germline DNA, and may be complemented by copy number analysis or immunohistochemistry for PTEN protein loss. Identifying PTEN alterations has diagnostic, prognostic, and therapeutic relevance, particularly in guiding targeted therapy selection and assessing cancer risk in affected individuals.

Anti-Müllerian hormone (AMH) is a glycoprotein hormone belonging to the transforming growth factor-β family. In females,...
12/16/2025

Anti-Müllerian hormone (AMH) is a glycoprotein hormone belonging to the transforming growth factor-β family. In females, it is produced by granulosa cells of preantral and small antral ovarian follicles and reflects the size of the remaining follicular pool. AMH is widely used as a biomarker of ovarian reserve, helping to assess reproductive potential, predict response to assisted reproductive techniques, and support the diagnosis of conditions such as polycystic o***y syndrome. Unlike other reproductive hormones, AMH levels show minimal variation during the menstrual cycle. In males, AMH is secreted by Sertoli cells during fetal life and childhood, playing a key role in male sexual differentiation.

The T315I mutation in the BCR-ABL1 kinase domain is the most common and clinically significant mutation conferring resis...
12/13/2025

The T315I mutation in the BCR-ABL1 kinase domain is the most common and clinically significant mutation conferring resistance to tyrosine kinase inhibitors (TKIs) in chronic myeloid leukemia (CML). This “gatekeeper” mutation involves substitution of threonine with isoleucine at position 315, disrupting a critical hydrogen bond required for binding of first- and second-generation TKIs, including imatinib, dasatinib, nilotinib, and bosutinib. As a result, leukemic cells retain constitutive kinase activity despite therapy, leading to treatment failure and disease progression. Detection of the T315I mutation has major therapeutic implications, as it predicts resistance to most TKIs but sensitivity to third-generation inhibitors such as ponatinib and newer agents like asciminib.

LDS®Rx® is a user-friendly analytical tool that employs a sophisticated algorithm to interpret syndromic panels and anti...
12/11/2025

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

Hereditary spherocytosis (HS) is the most common inherited hemolytic anemia, caused by defects in RBC membrane-cytoskele...
12/08/2025

Hereditary spherocytosis (HS) is the most common inherited hemolytic anemia, caused by defects in RBC membrane-cytoskeleton proteins such as spectrin, ankyrin, protein 4.2, and especially Band 3. These abnormalities impair vertical membrane stability, trigger microvesiculation, and reduce surface area, producing rigid spherocytes that are rapidly cleared in the spleen. Band 3 loss or dysfunction also disrupts chloride-bicarbonate exchange and weakens cytoskeletal anchoring. Oxidative stress further damages Band 3, accelerating membrane instability and RBC senescence. Clinically, HS presents with anemia, jaundice, splenomegaly, reticulocytosis, and pigment gallstones, with newborns often showing hyperbilirubinemia. Diagnosis uses EMA binding, osmotic fragility, or glycerol lysis testing.

🚀 Big news! Our latest update introduces direct mapping of antimicrobial resistance (ABR) genes to pathogens, a breakthr...
12/04/2025

🚀 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.


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Check out our Computerized Provider Order Entry (CPOE) specifically designed to help providers order the right test(s) f...
12/03/2025

Check out our Computerized Provider Order Entry (CPOE) specifically designed to help providers order the right test(s) for any given disease by meeting the medical necessity and, thereby improve reimbursement rates. Every order submitted using the Company's CPOE automatically will include the correct ICD10 and CPT codes and will be checked for Medicare LCDs and NCDs to ensure medical necessity is met.

Pompe disease, also known as glycogen storage disease type II, is a rare autosomal recessive metabolic disorder caused b...
12/03/2025

Pompe disease, also known as glycogen storage disease type II, is a rare autosomal recessive metabolic disorder caused by mutations in the GAA gene, leading to deficiency of the lysosomal enzyme acid α-glucosidase. This results in pathological glycogen accumulation within multiple tissues, especially cardiac and skeletal muscle. The disease exists on a spectrum: infantile onset presents early with cardiomegaly, hypotonia, feeding difficulties, respiratory failure, and rapid progression; without treatment it is typically fatal within the first year. Late-onset Pompe disease appears in childhood or adulthood, characterized by proximal muscle weakness, progressive respiratory insufficiency, and minimal cardiac involvement. Diagnosis relies on enzyme activity testing and genetic confirmation.

Galectin-3 is the focus of a novel cardiovascular diagnostic test designed to detect early myocardial fibrosis and infla...
12/02/2025

Galectin-3 is the focus of a novel cardiovascular diagnostic test designed to detect early myocardial fibrosis and inflammation. As a lectin released by activated macrophages and fibroblasts, Galectin-3 reflects key remodeling processes that precede symptomatic heart failure. This high-sensitivity blood assay requires only a small sample and provides rapid, clinically actionable results. By identifying patients at elevated risk of heart failure progression, hospitalization, and long-term adverse outcomes, the test supports earlier intervention and more precise risk stratification. Its strong prognostic value reported by validation studies complements established markers such as natriuretic peptides, offering unique insight into chronic cardiac remodeling and overall disease trajectory.

Des-gamma-carboxy prothrombin (DCP), also known as PIVKA-II is an abnormal form of prothrombin produced by malignant hep...
11/27/2025

Des-gamma-carboxy prothrombin (DCP), also known as PIVKA-II is an abnormal form of prothrombin produced by malignant hepatocytes. It is widely used as a biomarker for hepatocellular carcinoma (HCC). Elevated DCP levels reflect impaired vitamin K–dependent carboxylation in tumor cells and are associated with tumor aggressiveness, vascular invasion, and poor differentiation. Compared to alpha-fetoprotein (AFP), DCP often shows better performance in detecting larger or more advanced tumors and in predicting prognosis. Clinically, DCP is used for HCC surveillance in high-risk patients, diagnosis alongside imaging, and assessment of recurrence after treatment/transplant. Combining DCP with AFP improves sensitivity and overall diagnostic accuracy for HCC detection. Learn more about the testing with Medical Database.

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