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Accurate Test Results for NADK2 Gene 2,4-dienoyl-CoA reductase deficiency NGS Genetic DNA Test
NADK2 Gene 2,4-dienoyl-CoA reductase deficiency NGS Genetic DNA Test Cost 20000 Rs
NADK2 Gene 2,4-dienoyl-CoA reductase deficiency NGS Genetic DNA Test Details
NADK2 Gene 2,4-dienoyl-CoA reductase deficiency NGS Genetic DNA Test cost INR:20000 symptoms diagnosis
DNA Labs India offers NGS Genetic DNA Test for NADK2 Gene 2,4-dienoyl-CoA reductase deficiency at a cost of INR 20000. This genetic disorder is a rare autosomal recessive condition that affects the metabolism of fatty acids. It is caused by mutations in the NADK2 gene that encodes the 2,4-dienoyl-CoA reductase enzyme.
Symptoms of NADK2 Gene 2,4-dienoyl-CoA reductase deficiency
The symptoms of NADK2 Gene 2,4-dienoyl-CoA reductase deficiency can vary widely among individuals. Some common symptoms include:
- Developmental delay
- Hypotonia (low muscle tone)
- Seizures
- Intellectual disability
- Abnormalities in the white matter of the brain
- Poor feeding and growth
- Abnormal liver function tests
Diagnosis of NADK2 Gene 2,4-dienoyl-CoA reductase deficiency
The diagnosis of NADK2 Gene 2,4-dienoyl-CoA reductase deficiency is based on clinical symptoms, biochemical testing, and genetic testing. Biochemical testing can detect the abnormal accumulation of fatty acid metabolites in the blood or urine. Genetic testing can identify mutations in the NADK2 gene that are responsible for the condition.
NGS Genetic DNA Test for NADK2 Gene 2,4-dienoyl-CoA reductase deficiency
DNA Labs India offers a Next-Generation Sequencing (NGS) Genetic DNA Test for NADK2 Gene 2,4-dienoyl-CoA reductase deficiency. This test uses advanced sequencing technology to analyze the entire coding region of the NADK2 gene, as well as adjacent non-coding regions. The test can detect all types of mutations, including point mutations, insertions, deletions, and duplications. The NGS Genetic DNA Test is highly accurate and can detect mutations in up to 99% of cases.
Cost of NGS Genetic DNA Test for NADK2 Gene 2,4-dienoyl-CoA reductase deficiency
The cost of the NGS Genetic DNA Test for NADK2 Gene 2,4-dienoyl-CoA reductase deficiency is INR 20000. The test includes the analysis of the entire coding region of the NADK2 gene, as well as adjacent non-coding regions. The test is highly accurate and can detect mutations in up to 99% of cases.
Conclusion
NADK2 Gene 2,4-dienoyl-CoA reductase deficiency is a rare autosomal recessive genetic disorder that affects the metabolism of fatty acids. The symptoms can vary widely among individuals, and the diagnosis is based on clinical symptoms, biochemical testing, and genetic testing. DNA Labs India offers a highly accurate NGS Genetic DNA Test for NADK2 Gene 2,4-dienoyl-CoA reductase deficiency at a cost of INR 20000.
If you suspect that you or your child may have NADK2 Gene 2,4-dienoyl-CoA reductase deficiency, it is important to consult a genetic counselor or healthcare provider. They can provide more information about the condition and recommend appropriate testing and treatment options.
For more information about NGS Genetic DNA Test for NADK2 Gene 2,4-dienoyl-CoA reductase deficiency, please contact DNA Labs India.
