Short Description

NGS genetic DNA test detecets for variant and mutation detection in MOCS1 gene for Molybdenum cofactor deficiency type A

PreTest Information

Clinical History of Patient who is going for MOCS1 Gene Molybdenum cofactor deficiency type A NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Molybdenum cofactor deficiency type A

Detail Description

MOCS1 Gene Molybdenum Cofactor Deficiency Type A NGS Genetic DNA Test

MOCS1 Gene Molybdenum Cofactor Deficiency Type A is a rare genetic disorder that affects the metabolism of molybdenum, a mineral that is essential for the proper functioning of many enzymes in the body. This disorder is caused by mutations in the MOCS1 gene, which provides instructions for making an enzyme that is necessary for the production of molybdenum cofactor.

Individuals with MOCS1 Gene Molybdenum Cofactor Deficiency Type A have a deficiency of molybdenum cofactor, which leads to the accumulation of toxic substances in the body. This can cause a wide range of symptoms, including seizures, developmental delay, intellectual disability, muscle stiffness, and feeding difficulties.

Diagnosis of MOCS1 Gene Molybdenum Cofactor Deficiency Type A

MOCS1 Gene Molybdenum Cofactor Deficiency Type A can be diagnosed through genetic testing. Next-generation sequencing (NGS) is a powerful tool for identifying mutations in the MOCS1 gene. NGS can detect mutations in the gene with high accuracy and can provide valuable information about the nature and severity of the mutation.

Symptoms of MOCS1 Gene Molybdenum Cofactor Deficiency Type A

The symptoms of MOCS1 Gene Molybdenum Cofactor Deficiency Type A can vary widely from person to person. Some individuals may have mild symptoms, while others may have severe symptoms that require lifelong care. Some of the common symptoms include:

• Seizures
• Developmental delay
• Intellectual disability
• Muscle stiffness
• Feeding difficulties
• Abnormal eye movements
• Low muscle tone
• Respiratory problems

Cost of MOCS1 Gene Molybdenum Cofactor Deficiency Type A NGS Genetic DNA Test

The cost of MOCS1 Gene Molybdenum Cofactor Deficiency Type A NGS Genetic DNA Test is INR 20,000. This test is available at DNA Labs India, a leading provider of genetic testing services in India. DNA Labs India uses state-of-the-art technology to provide accurate and reliable genetic testing results.

Conclusion

MOCS1 Gene Molybdenum Cofactor Deficiency Type A is a rare genetic disorder that can cause a wide range of symptoms. Genetic testing, such as NGS, can provide valuable information about the nature and severity of the mutation. The cost of MOCS1 Gene Molybdenum Cofactor Deficiency Type A NGS Genetic DNA Test is INR 20,000 at DNA Labs India, a leading provider of genetic testing services in India.

If you or someone you know is experiencing symptoms of MOCS1 Gene Molybdenum Cofactor Deficiency Type A, it is important to seek medical attention as soon as possible. Early diagnosis and treatment can improve outcomes and quality of life.

For more information about MOCS1 Gene Molybdenum Cofactor Deficiency Type A NGS Genetic DNA Test, visit DNA Labs India's website or contact them directly.