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Accurate Test Results for MPC1 Gene Mitochondrial pyruvate carrier deficiency NGS Genetic DNA Test
MPC1 Gene Mitochondrial pyruvate carrier deficiency NGS Genetic DNA Test Cost 20000 Rs
MPC1 Gene Mitochondrial pyruvate carrier deficiency NGS Genetic DNA Test Details
DNA Labs India: MPC1 Gene Mitochondrial Pyruvate Carrier Deficiency NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis
DNA Labs India provides a comprehensive range of genetic tests to help individuals and families to identify the cause of genetic diseases and disorders. One such test is the MPC1 Gene Mitochondrial Pyruvate Carrier Deficiency NGS Genetic DNA Test, which helps to diagnose mitochondrial pyruvate carrier deficiency caused by mutations in the MPC1 gene.
What is Mitochondrial Pyruvate Carrier Deficiency?
Mitochondrial pyruvate carrier deficiency is a rare genetic disorder that affects the transport of pyruvate into the mitochondria, where it is used to produce energy. This results in a variety of symptoms, including developmental delay, intellectual disability, seizures, movement disorders, and lactic acidosis.
What is the MPC1 Gene?
The MPC1 gene provides instructions for making a protein that is involved in the transport of pyruvate into the mitochondria. Mutations in the MPC1 gene can impair the function of the protein, leading to mitochondrial pyruvate carrier deficiency.
Symptoms of Mitochondrial Pyruvate Carrier Deficiency
Symptoms of mitochondrial pyruvate carrier deficiency can vary widely, but often include developmental delay, intellectual disability, seizures, movement disorders, and lactic acidosis. These symptoms can be mild or severe, and may not appear until later in childhood or even adulthood.
Diagnosis of Mitochondrial Pyruvate Carrier Deficiency
Diagnosis of mitochondrial pyruvate carrier deficiency requires a combination of clinical evaluation, biochemical testing, and genetic testing. Biochemical testing may include measurement of lactic acid levels in the blood and urine, as well as testing for other metabolic abnormalities. Genetic testing, such as the MPC1 Gene Mitochondrial Pyruvate Carrier Deficiency NGS Genetic DNA Test, can confirm the diagnosis by identifying mutations in the MPC1 gene.
MPC1 Gene Mitochondrial Pyruvate Carrier Deficiency NGS Genetic DNA Test
The MPC1 Gene Mitochondrial Pyruvate Carrier Deficiency NGS Genetic DNA Test is a comprehensive genetic test that uses next-generation sequencing (NGS) technology to identify mutations in the MPC1 gene. The test is performed on a blood sample, and results are typically available within 4-6 weeks. The cost of the test is INR:20000.
Conclusion
DNA Labs India provides a valuable service to individuals and families affected by mitochondrial pyruvate carrier deficiency by offering the MPC1 Gene Mitochondrial Pyruvate Carrier Deficiency NGS Genetic DNA Test. This test can help to confirm the diagnosis of the disorder, allowing for appropriate management and treatment. If you or a loved one is experiencing symptoms of mitochondrial pyruvate carrier deficiency, consider contacting DNA Labs India to learn more about this test and other available genetic tests.
