Short Description

NGS genetic DNA test detecets for variant and mutation detection in HMGCS2 gene for 3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency

PreTest Information

Clinical History of Patient who is going for HMGCS2 Gene 3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with 3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency

Detail Description

HMGCS2 Gene 3-hydroxy-3-methylglutaryl-CoA Synthase 2 Deficiency NGS Genetic DNA Test

3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency is a rare genetic disorder that affects the body's ability to produce ketones, which are important for energy production. The HMGCS2 gene provides instructions for making an enzyme called 3-hydroxy-3-methylglutaryl-CoA synthase 2, which is involved in the production of ketones. Mutations in this gene can lead to a deficiency of this enzyme, resulting in the symptoms of the disorder.

Symptoms

The symptoms of HMGCS2 gene 3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency can vary from person to person. Some common symptoms include:

• Low blood sugar
• Lethargy
• Weakness
• Poor feeding
• Vomiting
• Dehydration
• Ketosis

Diagnosis

The diagnosis of HMGCS2 gene 3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency is typically made through genetic testing. This involves analyzing a sample of DNA to look for mutations in the HMGCS2 gene. Other tests may also be done to evaluate the levels of ketones in the blood.

NGS Genetic DNA Test

Next-generation sequencing (NGS) is a type of genetic testing that allows for the analysis of multiple genes at once. This can be especially useful for rare genetic disorders like HMGCS2 gene 3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency, where there may be multiple genes involved in the disease. NGS testing can provide a comprehensive evaluation of a person's genetic makeup, making it easier to identify mutations that may be causing the disorder.

Cost

The cost of an NGS genetic DNA test for HMGCS2 gene 3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency can vary depending on the provider. In India, the average cost for this test is around INR 20,000. However, it is important to check with your insurance provider to see if they cover the cost of genetic testing.

Conclusion

HMGCS2 gene 3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency is a rare genetic disorder that can cause a range of symptoms. Genetic testing, including NGS testing, can help to identify mutations in the HMGCS2 gene and provide a diagnosis for this disorder. If you or a loved one are experiencing symptoms of HMGCS2 gene 3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency, it is important to speak with a healthcare provider and consider genetic testing.

At DNA Labs India, we provide a range of genetic testing services, including NGS testing for HMGCS2 gene 3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency. Contact us today to learn more.