Short Description

NGS genetic DNA test detecets for variant and mutation detection in SLC19A2 gene for Thiamine-responsive megaloblastic anemia syndrome

PreTest Information

Clinical History of Patient who is going for SLC19A2 Gene Thiamine-responsive megaloblastic anemia syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SLC19A2 Gene Thiamine-responsive megaloblastic anemia syndrome NGS Genetic DNA Test gene SLC19A2

Detail Description

SLC19A2 Gene Thiamine-Responsive Megaloblastic Anemia Syndrome NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Thiamine-responsive megaloblastic anemia syndrome (TRMA) is a rare inherited disorder that affects the body's ability to produce red blood cells. It is caused by mutations in the SLC19A2 gene, which provides instructions for making a protein that is involved in the transport of thiamine (vitamin B1) into cells. Without enough thiamine, the body cannot make enough red blood cells, leading to anemia.

Symptoms of TRMA

The symptoms of TRMA usually appear in infancy or early childhood and can include:

• Anemia
• Weakness and fatigue
• Shortness of breath
• Enlarged liver and spleen
• Diabetes mellitus
• Hearing loss

Diagnosis of TRMA

TRMA is diagnosed through genetic testing, specifically Next Generation Sequencing (NGS) Genetic DNA Test. This test looks for mutations in the SLC19A2 gene. If a mutation is found, the diagnosis of TRMA is confirmed.

Cost of TRMA NGS Genetic DNA Test

The cost of the TRMA NGS Genetic DNA Test in India is around INR 20,000. However, the cost may vary depending on the laboratory and location.

Conclusion

TRMA is a rare inherited disorder that affects the body's ability to produce red blood cells. It is caused by mutations in the SLC19A2 gene and is diagnosed through genetic testing, specifically Next Generation Sequencing (NGS) Genetic DNA Test. The cost of the TRMA NGS Genetic DNA Test in India is around INR 20,000. If you or someone you know is experiencing symptoms of TRMA, it is important to seek medical attention and consider genetic testing for a proper diagnosis.