Short Description

NGS genetic DNA test detecets for variant and mutation detection in MCCC1 gene for 3-methylcrontonyl-CoA carboxylase 1 deficiency

PreTest Information

Clinical History of Patient who is going for MCCC1 Gene 3-methylcrontonyl-CoA carboxylase 1 deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with 3-methylcrontonyl-CoA carboxylase 1 deficiency

Detail Description

MCCC1 Gene 3-methylcrontonyl-CoA carboxylase 1 deficiency NGS Genetic DNA Test

3-methylcrontonyl-CoA carboxylase 1 deficiency (MCCC1 deficiency) is a rare genetic disorder that affects the body's ability to break down certain proteins and fats. It is caused by mutations in the MCCC1 gene, which provides instructions for making an enzyme called 3-methylcrotonyl-CoA carboxylase.

MCCC1 deficiency is a progressive disease that can cause a range of symptoms, including developmental delay, seizures, muscle weakness, and breathing difficulties. Early diagnosis is essential for managing the condition and preventing complications.

Symptoms of MCCC1 deficiency

• Developmental delay or regression
• Seizures
• Muscle weakness or stiffness
• Difficulty feeding or poor appetite
• Vomiting or diarrhea
• Abnormal movements or postures
• Breathing difficulties
• Increased susceptibility to infections

Diagnosis of MCCC1 deficiency

MCCC1 deficiency is usually diagnosed through genetic testing. A simple blood test can be used to look for mutations in the MCCC1 gene. Newborn screening programs in some countries also include testing for MCCC1 deficiency.

Other tests that may be used to diagnose MCCC1 deficiency include urine tests, which can detect high levels of certain substances that are produced when the body is unable to break down proteins and fats properly.

NGS Genetic DNA Test for MCCC1 deficiency

Next-generation sequencing (NGS) is a powerful tool that can be used to detect mutations in the MCCC1 gene. NGS can identify a range of different mutations in a single test, making it a fast and efficient way to diagnose genetic disorders.

DNA Labs India offers NGS Genetic DNA Test for MCCC1 deficiency at a cost of INR 20,000. The test involves taking a small sample of blood or saliva and analyzing the DNA for mutations in the MCCC1 gene. Results are usually available within a few weeks.

Conclusion

MCCC1 deficiency is a rare but serious genetic disorder that can cause a range of symptoms. Early diagnosis is essential for managing the condition and preventing complications. NGS Genetic DNA Test for MCCC1 deficiency offered by DNA Labs India is a fast and efficient way to diagnose the condition and help patients get the treatment they need.

Contact DNA Labs India today to learn more about NGS Genetic DNA Test for MCCC1 deficiency and how it can help you or your loved ones.