Short Description

NGS genetic DNA test detecets for variant and mutation detection in HADHA gene for Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

PreTest Information

Clinical History of Patient who is going for HADHA Gene Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

Detail Description

HADHA Gene Long-chain 3-hydroxyacyl-CoA dehydrogenase Deficiency NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) is a rare genetic disorder that affects the breakdown of fats for energy in the body. This disorder is caused by mutations in the HADHA gene, which provides instructions for making the long-chain 3-hydroxyacyl-CoA dehydrogenase enzyme. This enzyme is responsible for breaking down long-chain fatty acids into energy.

Symptoms of LCHAD deficiency can vary greatly from person to person, but common symptoms include low blood sugar, muscle weakness, liver problems, and vision loss. In severe cases, LCHAD deficiency can cause life-threatening complications such as cardiomyopathy, respiratory distress, and sudden death.

If you suspect that you or a loved one may have LCHAD deficiency, it is important to seek medical attention immediately. A genetic DNA test can confirm the diagnosis and help guide treatment options.

NGS Genetic DNA Test for LCHAD Deficiency

Next-generation sequencing (NGS) is a powerful genetic testing method that allows for the simultaneous analysis of multiple genes. This technology can be used to identify mutations in the HADHA gene that are associated with LCHAD deficiency.

The NGS genetic DNA test for LCHAD deficiency is a simple and non-invasive procedure that involves collecting a small sample of blood or saliva. The sample is then sent to a specialized laboratory for analysis.

Cost of NGS Genetic DNA Test for LCHAD Deficiency

The cost of the NGS genetic DNA test for LCHAD deficiency in India is approximately INR 20,000. This cost may vary depending on the laboratory and the specific testing methods used.

Diagnosis and Treatment of LCHAD Deficiency

If a genetic DNA test confirms a diagnosis of LCHAD deficiency, treatment options may include dietary changes, vitamin supplements, and medications to manage symptoms. In severe cases, hospitalization may be necessary to manage life-threatening complications.

It is important to work closely with a medical professional to develop an individualized treatment plan that meets your specific needs. With early diagnosis and appropriate treatment, many individuals with LCHAD deficiency can lead healthy and fulfilling lives.

Conclusion

LCHAD deficiency is a rare genetic disorder that can cause serious health complications. If you suspect that you or a loved one may have LCHAD deficiency, it is important to seek medical attention and consider a genetic DNA test for diagnosis.

The NGS genetic DNA test for LCHAD deficiency is a simple and non-invasive procedure that can confirm a diagnosis and guide treatment options. The cost of this test in India is approximately INR 20,000.

Remember, early diagnosis and appropriate treatment are key to managing LCHAD deficiency and achieving optimal health outcomes. Don't hesitate to speak with a medical professional if you have any concerns about this rare genetic disorder.

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 HADHA Gene Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency NGS Genetic DNA Test