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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 **Hereditary Cancer Gene Panel (57 ACMG Genes)** is a comprehensive genetic test designed to assess inherited cancer risk by analyzing 57 clinically significant genes recommended by the **American College of Medical Genetics (ACMG)**. This panel identifies mutations linked to various hereditary cancers, including **breast, ovarian, colorectal, prostate, and pancreatic cancers**, enabling early detection and personalized risk management. Key features include **next-generation sequencing (NGS) technology** for high accuracy, expert-reviewed results, and actionable insights for **preventive care and targeted treatment strategies**. Ideal for individuals with a family history of cancer, this test empowers proactive healthcare decisions, offering **lifelong benefits through early intervention and precision medicine**.
The Jak 2 Exon 12-15 Mutation Analysis is a specialized genetic test designed to detect mutations in exons 12-15 of the JAK2 gene, which are associated with myeloproliferative neoplasms (MPNs) such as polycythemia vera (PV) and other hematologic disorders. This test offers high sensitivity and specificity, enabling early and accurate diagnosis, which is crucial for targeted treatment decisions and disease monitoring. Unlike standard JAK2 V617F mutation tests, this analysis identifies rare but clinically significant mutations, providing comprehensive genetic profiling for patients with suspected MPNs. Its advanced molecular technology ensures reliable results, supporting personalized therapeutic strategies and improving patient outcomes.