Short Description

NGS genetic DNA test detecets for variant and mutation detection in HMGCL gene for 3-hydroxy-3-methylglutaryl-CoA lyase deficiency

PreTest Information

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

Detail Description

HMGCL Gene: Understanding 3-hydroxy-3-methylglutaryl-CoA lyase deficiency

3-hydroxy-3-methylglutaryl-CoA lyase deficiency is a rare autosomal recessive disorder that affects the body's ability to break down certain amino acids and fats. It is caused by a mutation in the HMGCL gene, which provides instructions for making the enzyme 3-hydroxy-3-methylglutaryl-CoA lyase. This enzyme is important for the breakdown of a type of fat called ketones, which are used by the body for energy when glucose is not available.

Symptoms of HMGCL Deficiency

The symptoms of HMGCL deficiency can vary widely from person to person. Some individuals may have no symptoms at all, while others may experience severe symptoms that can be life-threatening. Some of the most common symptoms of HMGCL deficiency include:

• Poor feeding and failure to thrive in infants
• Recurrent episodes of vomiting and diarrhea
• Low blood sugar
• Enlarged liver and spleen
• Muscle weakness and fatigue
• Developmental delays and intellectual disability

Diagnosis of HMGCL Deficiency

Diagnosis of HMGCL deficiency is typically made through a combination of clinical evaluation, biochemical testing, and genetic testing. Biochemical testing involves analyzing the levels of certain substances in the blood, urine, and/or cerebrospinal fluid. Genetic testing involves analyzing a sample of the patient's DNA to look for mutations in the HMGCL gene.

NGS Genetic DNA Test for HMGCL Deficiency

The most accurate way to diagnose HMGCL deficiency is through genetic testing. Next-generation sequencing (NGS) is a type of genetic testing that can analyze multiple genes at once, including the HMGCL gene. This test can identify mutations in the HMGCL gene with a high degree of accuracy, making it an important tool for diagnosing HMGCL deficiency.

Cost of NGS Genetic DNA Test for HMGCL Deficiency

The cost of an NGS genetic DNA test for HMGCL deficiency can vary depending on the testing laboratory and the specific tests ordered. At DNA Labs India, we offer an NGS genetic DNA test for HMGCL deficiency for INR 20,000. This test includes sequencing of the HMGCL gene and analysis of the results by a team of experienced geneticists.

Conclusion

HMGCL deficiency is a rare and potentially life-threatening disorder that affects the body's ability to break down certain amino acids and fats. Diagnosis of this disorder is typically made through a combination of clinical evaluation, biochemical testing, and genetic testing. NGS genetic DNA testing is the most accurate way to diagnose HMGCL deficiency, and is available at DNA Labs India for a cost of INR 20,000.

If you suspect that you or a loved one may have HMGCL deficiency, it is important to seek medical attention right away. Early diagnosis and treatment can help to improve outcomes and prevent serious complications.

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 HMGCL Gene 3-hydroxy-3-methylglutaryl-CoA lyase deficiency NGS Genetic DNA Test