AMH Test: Principle, Procedure, and Clinical Significance

The Anti-Müllerian Hormone (AMH) test is an important diagnostic measurement in reproductive medicine, providing a cycle-independent measure of ovarian reserve, fertility potential, and endocrine health. Its stability (CV <5%) and strong correlation with antral follicle count (r=0.8–0.9) make it a preferred biomarker over FSH or estradiol for fertility assessment, PCOS …

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Non Invasive Prenatal Testing: NIPT Explained

Non-Invasive Prenatal Testing (NIPT) has changed the way prenatal care is done. It provides expectant parents with important genetic information about their unborn child through a simple blood test. This innovative screening method analyzes small fragments of DNA from the fetus that are present in the mother’s blood to detect …

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Craniofacial Disorders: Genes, Diagnosis, and Hope

Craniofacial disorders entail a wide spectrum of issues affecting the anatomy and development of the skull and face. These abnormalities, ranging from cleft lip and palate to craniosynostosis and Treacher-Collins syndrome, can have serious physical and mental consequences. Understanding the genetic links underlying craniofacial abnormalities is critical for proper diagnosis, …

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Spinal muscular atrophy (SMA)

Spinal muscular atrophy (SMA) is a rare autosomal recessive neuromuscular disorder characterized by the loss of lower motor neurons (anterior horn cells) in the spinal cord and brainstem nuclei, resulting in progressive muscle weakening and atrophy. The severity and age at onset differ considerably. SMA was initially documented in the …

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Sputum gram stain

Gram staining of expectorated sputum is a simplistic, easy-to-perform, commonly available, and low-cost diagnostic for pneumonia patients. Sputum Gram stain may detect many infections at the same time, and the test has a quick turnaround time. With adequate specimens, the sputum Gram stain can aid in establishing the right bacterial …

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Blood test of lactic acidosis

Lactic acidosis is caused by high levels of lactic acid (lactate) and protons in the bodily secretions and is usually associated with poor clinical outcomes. The intensity and clinical setting of lactic acidosis influence its impact. Lactic acid, a carbohydrate metabolism intermediate, is mostly produced by white skeletal muscle, the …

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alpha-Thalassemia; cause and laboratory diagnosis

Thalassemia is a spectrum of genetic conditions in which one or more globin genes are defective, resulting in reduced or deficient synthesis of the related globin chains. Patients with minor genetic abnormalities are usually asymptomatic. Patients with more severe abnormalities have symptoms caused by one or more of the following: …

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