Short Description

NGS genetic DNA test detecets for variant and mutation detection in ECHS1 gene for Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency

PreTest Information

Clinical History of Patient who is going for ECHS1 Gene Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with ECHS1 Gene Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency

Detail Description

ECHS1 Gene Mitochondrial Short-Chain Enoyl-CoA Hydratase 1 Deficiency NGS Genetic DNA Test

ECHS1 Gene Mitochondrial Short-Chain Enoyl-CoA Hydratase 1 Deficiency is a rare genetic disorder that affects the body's ability to produce energy. This disorder is caused by mutations in the ECHS1 gene, which provides instructions for making the enzyme mitochondrial short-chain enoyl-CoA hydratase 1. This enzyme is involved in the breakdown of fatty acids, which are used as a source of energy for the body.

Individuals with ECHS1 Gene Mitochondrial Short-Chain Enoyl-CoA Hydratase 1 Deficiency may experience a range of symptoms, including developmental delays, seizures, muscle weakness, and movement disorders. The severity of symptoms can vary widely, even among individuals with the same genetic mutation.

Symptoms of ECHS1 Gene Mitochondrial Short-Chain Enoyl-CoA Hydratase 1 Deficiency

The symptoms of ECHS1 Gene Mitochondrial Short-Chain Enoyl-CoA Hydratase 1 Deficiency can vary widely, but may include:

• Developmental delays
• Seizures
• Muscle weakness
• Movement disorders
• Difficulty feeding
• Failure to thrive
• Respiratory problems

Diagnosis of ECHS1 Gene Mitochondrial Short-Chain Enoyl-CoA Hydratase 1 Deficiency

The diagnosis of ECHS1 Gene Mitochondrial Short-Chain Enoyl-CoA Hydratase 1 Deficiency is typically made through genetic testing. This may involve sequencing the ECHS1 gene to identify mutations or using a targeted gene panel to look for mutations in multiple genes associated with mitochondrial disorders.

Other diagnostic tests may also be performed to evaluate the individual's symptoms and rule out other possible causes of their condition.

NGS Genetic DNA Test for ECHS1 Gene Mitochondrial Short-Chain Enoyl-CoA Hydratase 1 Deficiency

A Next-Generation Sequencing (NGS) Genetic DNA Test is a powerful tool that can be used to identify mutations in the ECHS1 gene or other genes associated with mitochondrial disorders. This test involves analyzing the individual's DNA to look for changes or mutations that may be causing their symptoms.

The cost of an NGS Genetic DNA Test for ECHS1 Gene Mitochondrial Short-Chain Enoyl-CoA Hydratase 1 Deficiency can vary depending on the specific test and the laboratory performing the analysis. In India, the cost of this test typically ranges from INR 15,000 to INR 25,000.

Conclusion

ECHS1 Gene Mitochondrial Short-Chain Enoyl-CoA Hydratase 1 Deficiency is a rare genetic disorder that can cause a range of symptoms, including developmental delays, seizures, and muscle weakness. Diagnosis typically involves genetic testing, and an NGS Genetic DNA Test can be a powerful tool for identifying mutations in the ECHS1 gene or other genes associated with mitochondrial disorders. If you or a loved one is experiencing symptoms of ECHS1 Gene Mitochondrial Short-Chain Enoyl-CoA Hydratase 1 Deficiency, talk to your healthcare provider about the possibility of genetic testing.

At DNA Labs India, we offer a range of genetic testing services, including NGS Genetic DNA Testing for ECHS1 Gene Mitochondrial Short-Chain Enoyl-CoA Hydratase 1 Deficiency. Our team of experts is committed to providing accurate and reliable testing services at an affordable price. Contact us today to learn more about our services or to schedule an appointment.

For more information on genetic testing and other related topics, be sure to check out the DNA Labs India blog.