Short Description

NGS genetic DNA test detecets for variant and mutation detection in MCEE gene for Methylmalonyl-CoA epimerase deficiency

PreTest Information

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

Detail Description

MCEE Gene Methylmalonyl-CoA epimerase deficiency NGS Genetic DNA Test cost INR:20000 symptoms diagnosis

DNA Labs India is a leading provider of genetic testing services in India. They offer a wide range of genetic tests, including the MCEE Gene Methylmalonyl-CoA epimerase deficiency NGS Genetic DNA Test, which is used to diagnose a rare genetic disorder called Methylmalonyl-CoA epimerase deficiency.

What is Methylmalonyl-CoA epimerase deficiency?

Methylmalonyl-CoA epimerase deficiency is a rare genetic disorder that affects the body's ability to process certain proteins and fats. This disorder is caused by mutations in the MCEE gene, which provides instructions for making an enzyme called methylmalonyl-CoA epimerase.

People with Methylmalonyl-CoA epimerase deficiency are unable to convert a substance called L-methylmalonyl-CoA into its D-isomer form, which is needed for the body to break down certain proteins and fats. This results in a build-up of L-methylmalonyl-CoA and its byproducts in the body, which can lead to a range of symptoms.

Symptoms of Methylmalonyl-CoA epimerase deficiency

The symptoms of Methylmalonyl-CoA epimerase deficiency can vary widely from person to person. Some common symptoms include:

• Developmental delays
• Low muscle tone
• Enlarged liver
• Low blood sugar
• Seizures
• Acidosis
• Brain damage

Diagnosis of Methylmalonyl-CoA epimerase deficiency

Methylmalonyl-CoA epimerase deficiency is typically diagnosed through a combination of clinical evaluation, blood tests, and genetic testing. The MCEE Gene Methylmalonyl-CoA epimerase deficiency NGS Genetic DNA Test offered by DNA Labs India is a highly accurate genetic test that can identify mutations in the MCEE gene.

Cost of MCEE Gene Methylmalonyl-CoA epimerase deficiency NGS Genetic DNA Test

The cost of the MCEE Gene Methylmalonyl-CoA epimerase deficiency NGS Genetic DNA Test offered by DNA Labs India is INR 20,000. This test is covered by most insurance plans, and DNA Labs India offers flexible payment options for those who are uninsured or underinsured.

Conclusion

If you or a loved one are experiencing symptoms of Methylmalonyl-CoA epimerase deficiency, it is important to seek medical attention and consider genetic testing. The MCEE Gene Methylmalonyl-CoA epimerase deficiency NGS Genetic DNA Test offered by DNA Labs India is a highly accurate and affordable option for diagnosing 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 MCEE Gene Methylmalonyl-CoA epimerase deficiency NGS Genetic DNA Test