Short Description

NGS genetic DNA test detecets for variant and mutation detection in FLNA gene for Terminal osseous dysplasis

PreTest Information

Clinical History of Patient who is going for FLNA Gene Terminal osseous dysplasis NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with FLNA Gene Terminal osseous dysplasis NGS Genetic DNA Test gene FLNA

Detail Description

FLNA Gene Terminal Osseous Dysplasis NGS Genetic DNA Test Cost INR: 20000 Symptoms Diagnosis

Terminal Osseous Dysplasia (TOD) is a rare genetic disorder that affects bone and cartilage development. TOD is caused by mutations in the FLNA gene, which provides instructions for making the protein filamin A. Filamin A is involved in the formation of the cytoskeleton, which gives shape and structure to cells.

FLNA gene mutations lead to the production of an abnormal filamin A protein, which disrupts the cytoskeleton and affects bone and cartilage development. Symptoms of TOD can vary widely, but typically include short stature, malformed fingers and toes, and skeletal abnormalities.

TOD is diagnosed through genetic testing, specifically Next-Generation Sequencing (NGS) of the FLNA gene. NGS is a high-throughput DNA sequencing technology that allows for rapid and accurate sequencing of large amounts of DNA.

DNA Labs India offers an FLNA Gene Terminal Osseous Dysplasia NGS Genetic DNA Test at a cost of INR 20,000. The test analyzes the entire FLNA gene for mutations that cause TOD.

Genetic testing for TOD can provide a definitive diagnosis, which can help individuals and families better understand the condition and plan for appropriate medical care. It can also help identify individuals who carry FLNA gene mutations but do not show symptoms, which can be important information for family planning.

In summary, FLNA Gene Terminal Osseous Dysplasia NGS Genetic DNA Test is a valuable tool for the diagnosis of TOD. DNA Labs India offers this test at a competitive cost, making it accessible to individuals and families seeking answers and information about this rare genetic disorder.