Short Description

NGS genetic DNA test detecets for variant and mutation detection in MPI gene for Glycosylation disorder type 1B

PreTest Information

Clinical History of Patient who is going for MPI Gene Glycosylation disorder type 1B NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Glycosylation disorder type 1B

Detail Description

MPI Gene Glycosylation Disorder Type 1B NGS Genetic DNA Test: Symptoms, Diagnosis and Cost

DNA Labs India is a leading provider of genetic testing services, offering a wide range of tests to diagnose and manage various genetic disorders. One of the tests offered by the company is the MPI Gene Glycosylation Disorder Type 1B NGS Genetic DNA Test, which is used to diagnose a rare genetic disorder called MPI gene glycosylation disorder type 1B.

Symptoms of MPI Gene Glycosylation Disorder Type 1B

MPI gene glycosylation disorder type 1B is a rare genetic disorder that affects the body's ability to process sugars. It is caused by mutations in the MPI gene, which provides instructions for making an enzyme called mannose phosphate isomerase. This enzyme is essential for the breakdown of sugars in the body, and when it is not functioning properly, it can lead to a variety of symptoms, including:

• Failure to thrive in infants
• Developmental delays
• Intellectual disability
• Liver dysfunction
• Abnormal bleeding
• Muscle weakness
• Neurological problems
• Seizures

Diagnosis of MPI Gene Glycosylation Disorder Type 1B

The MPI Gene Glycosylation Disorder Type 1B NGS Genetic DNA Test is used to diagnose this rare genetic disorder. This test uses next-generation sequencing (NGS) technology to analyze the DNA sequence of the MPI gene and identify any mutations that may be causing the disorder. The test can be performed on a blood sample or a cheek swab, and results are typically available within a few weeks.

Cost of MPI Gene Glycosylation Disorder Type 1B NGS Genetic DNA Test

The cost of the MPI Gene Glycosylation Disorder Type 1B NGS Genetic DNA Test at DNA Labs India is INR 20,000. This cost includes the test itself, as well as genetic counseling to help patients and their families understand the results of the test and any implications for their health.

Conclusion

If you or a loved one is experiencing symptoms of MPI gene glycosylation disorder type 1B, it is important to seek medical attention and consider genetic testing to diagnose the condition. The MPI Gene Glycosylation Disorder Type 1B NGS Genetic DNA Test offered by DNA Labs India is a reliable and accurate way to diagnose this rare genetic disorder, and the cost of the test includes genetic counseling to help patients and their families understand the results and make informed decisions about their health.

Contact DNA Labs India today to learn more about the MPI Gene Glycosylation Disorder Type 1B NGS Genetic DNA Test and other genetic testing services offered by the company.

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 MPI Gene Glycosylation disorder type 1B NGS Genetic DNA Test