Short Description

NGS genetic DNA test detecets for variant and mutation detection in CD320 gene for Methylmalonic aciduria CblR type

PreTest Information

Clinical History of Patient who is going for CD320 Gene Methylmalonic aciduria CblR type NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Methylmalonic aciduria CblR type

Detail Description

CD320 Gene Methylmalonic Aciduria CblR Type NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Methylmalonic aciduria (MMA) is a genetic disorder characterized by the inability of the body to process certain amino acids and fats. This condition is caused by mutations in the CD320 gene, which codes for a protein that is essential for the absorption of vitamin B12. Methylmalonic aciduria CblR type is a rare subtype of MMA that is caused by mutations in the CD320 gene.

Symptoms of Methylmalonic Aciduria CblR Type

The symptoms of MMA CblR type can vary widely from person to person, but may include:

• Developmental delays or intellectual disability
• Poor muscle tone
• Feeding difficulties and failure to thrive
• Seizures
• Vision and hearing problems
• Anemia

These symptoms can be present from birth or appear later in life, depending on the severity of the condition.

Diagnosis of Methylmalonic Aciduria CblR Type

MMA CblR type can be diagnosed through genetic testing, which looks for mutations in the CD320 gene. This can be done through a variety of methods, including:

• Next-generation sequencing (NGS)
• Sanger sequencing
• Whole exome sequencing (WES)

NGS is a commonly used method for genetic testing, as it allows for the analysis of multiple genes at once and can provide results more quickly than other methods.

Cost of CD320 Gene Methylmalonic Aciduria CblR Type NGS Genetic DNA Test

The cost of the CD320 gene methylmalonic aciduria CblR type NGS genetic DNA test can vary depending on the laboratory conducting the test and the specific testing method used. However, on average, the cost of this test is around INR 20,000.

Conclusion

Methylmalonic aciduria CblR type is a rare genetic disorder that can cause a range of symptoms. Genetic testing can be used to diagnose this condition, and the cost of the CD320 gene methylmalonic aciduria CblR type NGS genetic DNA test is around INR 20,000. If you suspect that you or a loved one may have this condition, it is important to speak with a healthcare professional for proper diagnosis and management.

For more information on genetic testing and DNA analysis, contact DNA Labs India today.