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Accurate Test Results for TPI1 Gene Triosephosphate isomerase deficiency NGS Genetic DNA Test
TPI1 Gene Triosephosphate isomerase deficiency NGS Genetic DNA Test Cost 20000 Rs
TPI1 Gene Triosephosphate isomerase deficiency NGS Genetic DNA Test Details
DNA Labs India: TPI1 Gene Triosephosphate Isomerase Deficiency NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis
Triosephosphate isomerase deficiency is a rare genetic disorder that affects the TPI1 gene. This gene is responsible for producing the triosephosphate isomerase enzyme, which is essential for glycolysis - the process of converting glucose into energy. When this gene is mutated, the enzyme is not produced properly, leading to a buildup of toxic substances that can damage the body's tissues and organs.
Symptoms of TPI1 Gene Triosephosphate Isomerase Deficiency
The symptoms of TPI1 gene triosephosphate isomerase deficiency can vary widely depending on the severity of the disease and the age of onset. Some of the most common symptoms include:
- Developmental delay
- Intellectual disability
- Seizures
- Progressive muscle weakness and wasting
- Anemia
- Jaundice
- Enlarged spleen and liver
- Recurrent infections
Diagnosis of TPI1 Gene Triosephosphate Isomerase Deficiency
Diagnosing TPI1 gene triosephosphate isomerase deficiency typically involves a combination of clinical evaluation, genetic testing, and laboratory tests. Doctors may perform a physical examination to look for signs of muscle weakness, anemia, and other symptoms associated with the disease. Blood tests may also be used to measure levels of certain enzymes and to look for evidence of hemolytic anemia.
Genetic testing is the most definitive way to diagnose TPI1 gene triosephosphate isomerase deficiency. This may involve a variety of tests, including:
- Next-generation sequencing (NGS)
- Sanger sequencing
- Targeted mutation analysis
- Deletion/duplication analysis
NGS Genetic DNA Test Cost at DNA Labs India
The cost of NGS genetic DNA testing for TPI1 gene triosephosphate isomerase deficiency at DNA Labs India is INR 20,000. This test uses advanced sequencing technology to analyze the patient's DNA and detect mutations in the TPI1 gene. The results of this test can help doctors make an accurate diagnosis and develop a personalized treatment plan for the patient.
Conclusion
TPI1 gene triosephosphate isomerase deficiency is a rare genetic disorder that can cause a wide range of symptoms, including developmental delay, seizures, anemia, and muscle weakness. Diagnosing this disease typically involves a combination of clinical evaluation, genetic testing, and laboratory tests. At DNA Labs India, we offer NGS genetic DNA testing for TPI1 gene triosephosphate isomerase deficiency at a cost of INR 20,000. If you suspect that you or a loved one may have this disease, talk to your doctor about getting tested.
Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for TPI1 Gene Triosephosphate isomerase deficiency NGS Genetic DNA Test
