Short Description

NGS genetic DNA test detecets for variant and mutation detection in MANBA gene for Mannosidosis-beta

PreTest Information

Clinical History of Patient who is going for MANBA Gene Mannosidosis-beta NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Mannosidosis-beta

Detail Description

Everything you need to know about MANBA Gene Mannosidosis-beta NGS Genetic DNA Test

MANBA Gene Mannosidosis-beta NGS Genetic DNA Test is a genetic test that helps diagnose Mannosidosis-beta, a rare genetic disorder. This test looks for mutations in the MANBA gene, which is responsible for producing the enzyme beta-mannosidase. A deficiency of this enzyme leads to the accumulation of certain complex carbohydrates in the body, causing the symptoms of Mannosidosis-beta.

Symptoms of Mannosidosis-beta

The symptoms of Mannosidosis-beta can vary widely in severity and can affect different parts of the body. Some common symptoms include:

• Developmental delay
• Mental retardation
• Seizures
• Abnormal facial features
• Enlarged liver and spleen
• Joint stiffness and pain
• Recurrent infections

These symptoms usually appear in early childhood and can worsen over time. Early diagnosis and treatment can help manage the symptoms and improve the quality of life for those affected.

Diagnosis of Mannosidosis-beta

The diagnosis of Mannosidosis-beta is based on clinical symptoms, biochemical tests, and genetic testing. The biochemical tests look for elevated levels of certain complex carbohydrates in the urine or blood. Genetic testing looks for mutations in the MANBA gene.

The MANBA Gene Mannosidosis-beta NGS Genetic DNA Test is a highly accurate test that can detect even small changes in the DNA sequence. It uses Next-Generation Sequencing (NGS) technology to analyze the entire MANBA gene and identify any mutations that may be present.

Cost of MANBA Gene Mannosidosis-beta NGS Genetic DNA Test

The cost of the MANBA Gene Mannosidosis-beta NGS Genetic DNA Test in India is around INR 20,000. This cost may vary depending on the testing facility and other factors. It is important to check with the testing facility for the exact cost and any additional charges that may apply.

Conclusion

The MANBA Gene Mannosidosis-beta NGS Genetic DNA Test is an important tool for the diagnosis of Mannosidosis-beta. Early diagnosis and treatment can help manage the symptoms and improve the quality of life for those affected. If you suspect that you or a family member may have Mannosidosis-beta, talk to your doctor about getting tested.

At DNA Labs India, we offer a wide range of genetic tests, including the MANBA Gene Mannosidosis-beta NGS Genetic DNA Test. Our tests are highly accurate and reliable, and our team of experts is always available to answer any questions you may have. Contact us today to learn more.

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 MANBA Gene Mannosidosis-beta NGS Genetic DNA Test