Short Description

NGS genetic DNA test detecets for variant and mutation detection in ABCD4 gene for Methylmalonic aciduria CblJ type

PreTest Information

Clinical History of Patient who is going for ABCD4 Gene Methylmalonic aciduria CblJ type NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Methylmalonic aciduria CblJ type

Detail Description

ABCD4 Gene Methylmalonic Aciduria CblJ Type NGS Genetic DNA Test Cost INR 20000: Symptoms and Diagnosis

ABCD4 gene is responsible for the production of a protein known as adenosine triphosphate-binding cassette sub-family D member 4 (ABCD4). This protein plays an essential role in the transportation of vitamin B12 into cells. Methylmalonic aciduria CblJ type is a genetic disorder that occurs when the ABCD4 gene is mutated or absent. This disorder leads to the accumulation of toxic levels of methylmalonic acid in the blood and urine, leading to severe health complications.

Symptoms of Methylmalonic Aciduria CblJ Type

The symptoms of methylmalonic aciduria CblJ type can vary depending on the severity of the disorder. Some of the common symptoms include:

• Vomiting
• Poor feeding and growth
• Developmental delays
• Muscle weakness
• Seizures
• Intellectual disability
• Abnormal movements

Diagnosis of Methylmalonic Aciduria CblJ Type

The diagnosis of methylmalonic aciduria CblJ type is usually done through genetic testing. The NGS Genetic DNA Test is the most commonly used test for the diagnosis of this disorder. This test looks for mutations in the ABCD4 gene that are responsible for the disorder. The test is done by taking a blood sample, and the results are usually available within a few weeks.

Cost of NGS Genetic DNA Test for Methylmalonic Aciduria CblJ Type

The cost of the NGS Genetic DNA Test for Methylmalonic Aciduria CblJ Type in India is around INR 20,000. The cost may vary depending on the laboratory and the location.

Conclusion

Methylmalonic aciduria CblJ type is a severe genetic disorder that can lead to severe health complications if left untreated. Early diagnosis through genetic testing is essential for the management of this disorder. The NGS Genetic DNA Test is the most commonly used test for the diagnosis of this disorder, and it is available in India at a cost of around INR 20,000. If you or your loved one is experiencing any of the symptoms mentioned above, it is essential to consult a medical professional for further evaluation and testing.