Short Description

NGS genetic DNA test detecets for variant and mutation detection in HIBCH gene for 3-hydroxyisobutryl-CoA hydrolase deficiency

PreTest Information

Clinical History of Patient who is going for HIBCH Gene 3-hydroxyisobutryl-CoA hydrolase deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with 3-hydroxyisobutryl-CoA hydrolase deficiency

Detail Description

HIBCH Gene 3-hydroxyisobutryl-CoA hydrolase deficiency NGS Genetic DNA Test: Cost, Symptoms, Diagnosis

DNA Labs India is a leading provider of genetic testing services in India. One of the tests they offer is the HIBCH Gene 3-hydroxyisobutryl-CoA hydrolase deficiency NGS Genetic DNA Test. This test is designed to identify mutations in the HIBCH gene that can cause a rare metabolic disorder known as 3-hydroxyisobutryl-CoA hydrolase deficiency. In this blog post, we'll discuss the symptoms, diagnosis, and cost of this test.

Symptoms of 3-hydroxyisobutryl-CoA hydrolase deficiency

3-hydroxyisobutryl-CoA hydrolase deficiency is a rare metabolic disorder that affects the breakdown of certain amino acids in the body. Symptoms of this disorder can include:

• Developmental delay
• Intellectual disability
• Seizures
• Low muscle tone
• Failure to thrive
• Abnormal movements
• Enlarged liver
• Enlarged heart

Symptoms of 3-hydroxyisobutryl-CoA hydrolase deficiency can vary widely among affected individuals. Some individuals may have mild symptoms while others may have more severe symptoms.

Diagnosis of 3-hydroxyisobutryl-CoA hydrolase deficiency

3-hydroxyisobutryl-CoA hydrolase deficiency is diagnosed through genetic testing. The HIBCH Gene 3-hydroxyisobutryl-CoA hydrolase deficiency NGS Genetic DNA Test is designed to identify mutations in the HIBCH gene that can cause this disorder.

If you or your child is showing symptoms of 3-hydroxyisobutryl-CoA hydrolase deficiency, your doctor may recommend genetic testing. The test involves taking a sample of blood or saliva and analyzing it in a laboratory. Results are typically available within a few weeks.

Cost of the HIBCH Gene 3-hydroxyisobutryl-CoA hydrolase deficiency NGS Genetic DNA Test

The cost of the HIBCH Gene 3-hydroxyisobutryl-CoA hydrolase deficiency NGS Genetic DNA Test at DNA Labs India is INR 20,000. This cost includes the test itself as well as genetic counseling and interpretation of the results.

If you are concerned about the cost of the test, you may want to check with your health insurance provider to see if they cover genetic testing for 3-hydroxyisobutryl-CoA hydrolase deficiency. Some insurance plans may cover part or all of the cost of the test.

Conclusion

The HIBCH Gene 3-hydroxyisobutryl-CoA hydrolase deficiency NGS Genetic DNA Test is an important tool for diagnosing 3-hydroxyisobutryl-CoA hydrolase deficiency. If you or your child is showing symptoms of this disorder, it's important to talk to your doctor about genetic testing. DNA Labs India offers this test at a cost of INR 20,000, which includes genetic counseling and interpretation of the results.

Remember, early diagnosis and treatment can help improve outcomes for individuals with 3-hydroxyisobutryl-CoA hydrolase deficiency. If you have any questions about this test or genetic testing in general, don't hesitate to reach out to DNA Labs India for more information.

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 HIBCH Gene 3-hydroxyisobutryl-CoA hydrolase deficiency NGS Genetic DNA Test