Short Description

NGS genetic DNA test detecets for variant and mutation detection in MMAB gene for Methylmalonic aciduria CblB type

PreTest Information

Clinical History of Patient who is going for MMAB Gene Methylmalonic aciduria CblB type NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Methylmalonic aciduria CblB type

Detail Description

MMAB Gene Methylmalonic Aciduria CblB Type NGS Genetic DNA Test Cost INR:20,000 Symptoms Diagnosis

MMAB gene methylmalonic aciduria CblB type is a rare genetic disorder that affects the body's ability to process vitamin B12. It is caused by mutations in the MMAB gene, which provides instructions for making a protein that plays a crucial role in vitamin B12 metabolism. This condition is inherited in an autosomal recessive pattern, which means that both parents must pass on a mutated copy of the MMAB gene for a child to develop the disorder.

Symptoms of MMAB Gene Methylmalonic Aciduria CblB Type

The symptoms of MMAB gene methylmalonic aciduria CblB type can vary widely from person to person. Some individuals may show no symptoms at all, while others may experience severe symptoms that can affect their quality of life. Common symptoms of MMAB gene methylmalonic aciduria CblB type include:

• Developmental delays
• Failure to thrive
• Weakness
• Fatigue
• Irritability
• Seizures
• Vision problems
• Difficulty walking
• Muscle stiffness
• Abnormal movements

Diagnosis of MMAB Gene Methylmalonic Aciduria CblB Type

MMAB gene methylmalonic aciduria CblB type can be diagnosed through genetic testing. This involves analyzing a person's DNA for mutations in the MMAB gene. Genetic testing can be done on a blood sample or a cheek swab. It is important to note that genetic testing can only confirm a diagnosis of MMAB gene methylmalonic aciduria CblB type; it cannot predict the severity of the condition or how it will progress over time.

NGS Genetic DNA Test for MMAB Gene Methylmalonic Aciduria CblB Type

Next-generation sequencing (NGS) is a powerful tool for genetic testing that allows for the rapid analysis of large amounts of DNA. NGS can be used to analyze the MMAB gene for mutations that are associated with methylmalonic aciduria CblB type. This test can provide a definitive diagnosis of the condition and can also be used to determine whether a person is a carrier of the mutated MMAB gene.

Cost of NGS Genetic DNA Test for MMAB Gene Methylmalonic Aciduria CblB Type

The cost of NGS genetic DNA testing for MMAB gene methylmalonic aciduria CblB type can vary depending on the provider and the location of the testing facility. In India, the cost of this test is typically around INR 20,000. It is important to note that this cost may not be covered by insurance, so it is important to check with your insurance provider before undergoing genetic testing.

Conclusion

MMAB gene methylmalonic aciduria CblB type is a rare genetic disorder that can cause a wide range of symptoms. Genetic testing, including NGS, can be used to diagnose this condition and provide important information about a person's risk of developing the disorder or passing it on to their children. If you or a loved one is experiencing symptoms of MMAB gene methylmalonic aciduria CblB type, it is important to speak with a healthcare provider and consider genetic testing to determine the cause of the symptoms.

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 MMAB Gene Methylmalonic aciduria CblB type NGS Genetic DNA Test