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Beta Thalassemia by PCR is a molecular diagnostic test designed to detect mutations in the HBB gene responsible for beta thalassemia.
Sample Type : EDTA Whole Blood
Methodology : PCR
TAT : 4 Weeks
The Fragile X (FMR1) Mutation Screen (L) is a genetic test designed to detect mutations in the FMR1 gene, which are associated with Fragile X syndrome, a leading cause of inherited intellectual disability and autism. This screening identifies CGG repeat expansions, distinguishing between normal, premutation, and full mutation alleles. Key benefits include early detection for informed reproductive decisions, risk assessment for carriers, and guidance for personalized medical management. Utilizing advanced molecular techniques, the test ensures high accuracy and reliability. Ideal for individuals with a family history of Fragile X or unexplained developmental delays, this screening provides critical genetic insights for proactive healthcare planning.
The **SPINAL MUSCULAR ATROPHY (SMA) Test** is a cutting-edge genetic screening tool designed to detect mutations in the **SMN1 gene**, the primary cause of SMA, a severe neuromuscular disorder. This highly accurate test enables **early diagnosis**, allowing for timely medical intervention and personalized treatment plans. It is **non-invasive**, requiring only a simple blood or saliva sample, and delivers **fast, reliable results**. Ideal for **newborn screening, carrier detection, and prenatal testing**, it empowers individuals and families with crucial genetic insights. With advanced technology ensuring **high sensitivity and specificity**, this test is a must-have for proactive healthcare and informed decision-making.