Short Description

NGS genetic DNA test detecets for variant and mutation detection in MCCC2 gene for 3-methylcrontonyl-CoA carboxylase 2 deficiency

PreTest Information

Clinical History of Patient who is going for MCCC2 Gene 3-methylcrontonyl-CoA carboxylase 2 deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with 3-methylcrontonyl-CoA carboxylase 2 deficiency

Detail Description

MCCC2 Gene 3-methylcrontonyl-CoA carboxylase 2 deficiency NGS Genetic DNA Test

3-methylcrotonyl-CoA carboxylase 2 deficiency is a rare genetic disorder that affects the body's ability to process certain proteins. This condition is caused by mutations in the MCCC2 gene, which provides instructions for making a protein called 3-methylcrotonyl-CoA carboxylase 2. This protein helps break down certain amino acids, which are the building blocks of proteins, in the body.

When the MCCC2 gene is mutated, the body is unable to break down certain amino acids, which can lead to a buildup of toxic substances in the body. This can cause a variety of symptoms, including developmental delay, intellectual disability, seizures, and muscle weakness.

Symptoms of MCCC2 Gene 3-methylcrontonyl-CoA carboxylase 2 deficiency

The symptoms of MCCC2 gene 3-methylcrontonyl-CoA carboxylase 2 deficiency can vary widely from person to person. Some individuals may have mild symptoms, while others may have severe symptoms. Some common symptoms of this condition include:

• Developmental delay
• Intellectual disability
• Seizures
• Muscle weakness
• Difficulty feeding
• Vomiting
• Diarrhea
• Low blood sugar
• Enlarged liver
• Enlarged spleen

Diagnosis of MCCC2 Gene 3-methylcrontonyl-CoA carboxylase 2 deficiency

MCCC2 gene 3-methylcrontonyl-CoA carboxylase 2 deficiency can be diagnosed through genetic testing. This involves analyzing a sample of the patient's DNA to look for mutations in the MCCC2 gene. There are several different types of genetic tests that can be used to diagnose this condition, including:

• NGS (Next Generation Sequencing)
• Sanger sequencing
• Targeted mutation analysis

NGS is a powerful tool for genetic testing, as it allows for the analysis of multiple genes at once. This can be particularly useful in cases where the diagnosis is uncertain or when multiple genetic disorders are suspected.

Cost of MCCC2 Gene 3-methylcrontonyl-CoA carboxylase 2 deficiency NGS Genetic DNA Test

The cost of the MCCC2 gene 3-methylcrontonyl-CoA carboxylase 2 deficiency NGS genetic DNA test in India is approximately INR 20,000. This cost may vary depending on the testing facility and other factors.

Conclusion

MCCC2 gene 3-methylcrontonyl-CoA carboxylase 2 deficiency is a rare genetic disorder that can cause a variety of symptoms, including developmental delay, intellectual disability, seizures, and muscle weakness. This condition can be diagnosed through genetic testing, including NGS, which allows for the analysis of multiple genes at once. The cost of the MCCC2 gene 3-methylcrontonyl-CoA carboxylase 2 deficiency NGS genetic DNA test in India is approximately INR 20,000.

If you suspect that you or a loved one may have MCCC2 gene 3-methylcrontonyl-CoA carboxylase 2 deficiency, it is important to speak with a healthcare provider or a genetic counselor. They can help guide you through the diagnostic process and provide you with information and support.

At DNA Labs India, we offer a wide range of genetic testing services, including NGS genetic DNA tests. Our team of experienced professionals uses the latest technology and techniques to provide accurate and reliable results. Contact us today to learn more about our services.

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 MCCC2 Gene 3-methylcrontonyl-CoA carboxylase 2 deficiency NGS Genetic DNA Test