Short Description

NGS genetic DNA test detecets for variant and mutation detection in ACOX1 gene for Acyl-CoA peroxisomal oxidase deficiency

PreTest Information

Clinical History of Patient who is going for ACOX1 Gene Acyl-CoA peroxisomal oxidase deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with ACOX1 Gene Acyl-CoA peroxisomal oxidase deficiency

Detail Description

ACOX1 Gene Acyl-CoA Peroxisomal Oxidase Deficiency NGS Genetic DNA Test

ACOX1 Gene Acyl-CoA Peroxisomal Oxidase Deficiency is a rare genetic condition that affects the body's ability to break down certain fatty acids. The ACOX1 gene provides instructions for making an enzyme called acyl-CoA oxidase, which is necessary for the breakdown of fatty acids in peroxisomes. When this gene is mutated, it can lead to a deficiency in acyl-CoA oxidase, which can cause a range of symptoms.

Symptoms of ACOX1 Gene Acyl-CoA Peroxisomal Oxidase Deficiency

The symptoms of ACOX1 Gene Acyl-CoA Peroxisomal Oxidase Deficiency can vary widely, depending on the severity of the condition. Some people may have no symptoms at all, while others may experience severe symptoms.

Common symptoms of ACOX1 Gene Acyl-CoA Peroxisomal Oxidase Deficiency include:

• Developmental delay
• Seizures
• Low muscle tone
• Liver problems
• Respiratory difficulties

Diagnosis of ACOX1 Gene Acyl-CoA Peroxisomal Oxidase Deficiency

The diagnosis of ACOX1 Gene Acyl-CoA Peroxisomal Oxidase Deficiency is typically made through genetic testing. A DNA test can identify mutations in the ACOX1 gene, which can confirm a diagnosis of the condition.

Other tests that may be used to diagnose ACOX1 Gene Acyl-CoA Peroxisomal Oxidase Deficiency include:

• Blood tests
• Urine tests
• Imaging tests, such as an MRI or CT scan

ACOX1 Gene Acyl-CoA Peroxisomal Oxidase Deficiency NGS Genetic DNA Test Cost

The cost of the ACOX1 Gene Acyl-CoA Peroxisomal Oxidase Deficiency NGS Genetic DNA Test is INR 20,000.

Conclusion

ACOX1 Gene Acyl-CoA Peroxisomal Oxidase Deficiency is a rare genetic condition that can cause a range of symptoms. If you or a loved one is experiencing symptoms of the condition, it is important to speak with a healthcare professional. Genetic testing can confirm a diagnosis of ACOX1 Gene Acyl-CoA Peroxisomal Oxidase Deficiency, and early diagnosis can help to manage symptoms and improve outcomes.

If you are interested in learning more about the ACOX1 Gene Acyl-CoA Peroxisomal Oxidase Deficiency NGS Genetic DNA Test, please contact DNA Labs India for more information.