Short Description

NGS genetic DNA test detecets for variant and mutation detection in CC2D1A gene for Mental retardation, autosomal recessive type 3

PreTest Information

Clinical History of Patient who is going for CC2D1A Gene Mental retardation, autosomal recessive type 3 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with CC2D1A Gene Mental retardation, autosomal recessive type 3

Detail Description

DNA Labs India: CC2D1A Gene Mental Retardation, Autosomal Recessive Type 3 NGS Genetic DNA Test Cost INR: 20,000 Symptoms Diagnosis

CC2D1A gene mutation is associated with autosomal recessive mental retardation. CC2D1A gene provides instructions for making a protein called Coiled-Coil and C2 Domain Containing 1A. This protein is involved in the development and maintenance of nerve cells. Mutations in CC2D1A gene can disrupt the normal development and function of nerve cells, leading to mental retardation.

Symptoms of CC2D1A Gene Mutation

The symptoms of CC2D1A gene mutation can vary widely. Some individuals may have mild mental retardation while others may have severe intellectual disability. Other symptoms may include:

• Delayed speech and language development
• Delayed motor development
• Behavioral problems such as hyperactivity, impulsivity, and aggression
• Seizures
• Abnormalities in the structure of the brain

Diagnosis of CC2D1A Gene Mutation

CC2D1A gene mutation can be diagnosed through genetic testing. Next-generation sequencing (NGS) is a type of genetic testing that can analyze multiple genes at once. NGS can detect mutations in the CC2D1A gene that may be responsible for mental retardation.

The DNA sample for NGS testing can be obtained through a simple blood test. The sample is then sent to a laboratory for analysis. The test results can usually be obtained within a few weeks.

NGS Genetic DNA Test Cost

The cost of NGS genetic DNA test for CC2D1A gene mutation is INR 20,000 in DNA Labs India. This cost includes the genetic testing, analysis, and interpretation of the test results.

Conclusion

CC2D1A gene mutation is a rare genetic disorder that can cause mental retardation. NGS genetic DNA testing can help diagnose this disorder. DNA Labs India offers NGS genetic DNA testing for CC2D1A gene mutation at an affordable cost of INR 20,000. Early diagnosis and treatment can help improve the quality of life for individuals with this disorder.

If you suspect that you or someone you know may have CC2D1A gene mutation, contact DNA Labs India to schedule a genetic testing appointment.