Short Description

NGS genetic DNA test detecets for variant and mutation detection in ATP6AP2 gene for Mental retardation, X-linked with epilepsy

PreTest Information

Clinical History of Patient who is going for ATP6AP2 Gene Mental retardation, X-linked with epilepsy NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with ATP6AP2 Gene Mental retardation, X-linked with epilepsy

Detail Description

ATP6AP2 Gene Mental Retardation and Epilepsy NGS Genetic DNA Test Cost INR 20000 | Symptoms and Diagnosis

ATP6AP2 gene mutation is a rare genetic disorder that causes mental retardation and epilepsy. The disorder is inherited in an X-linked pattern, which means that it affects males more severely than females. The ATP6AP2 gene provides instructions for making a protein that is involved in the transportation of enzymes and other proteins within cells. The mutation in the gene leads to a deficiency of the protein, which affects the normal functioning of the brain cells.

The symptoms of ATP6AP2 gene mutation include intellectual disability, delayed speech development, seizures, muscle weakness, and vision problems. The symptoms may vary from person to person, and in some cases, they may be mild.

The diagnosis of ATP6AP2 gene mutation is done through a genetic test. The test uses Next-Generation Sequencing (NGS) technology to sequence the entire ATP6AP2 gene and identify any mutations that may be present. The test is done using a blood sample or a cheek swab. The test is highly accurate and can detect even small mutations in the gene.

At DNA Labs India, we offer ATP6AP2 Gene Mental Retardation and Epilepsy NGS Genetic DNA Test at a cost of INR 20000. The test is performed by our highly qualified and experienced geneticists using state-of-the-art technology. We ensure accurate and reliable results, and our turnaround time is quick.

Conclusion

ATP6AP2 Gene Mental Retardation and Epilepsy NGS Genetic DNA Test is a highly accurate and reliable test that can diagnose ATP6AP2 gene mutation. The test is performed using state-of-the-art technology and is available at DNA Labs India at a cost of INR 20000. The test can help in early diagnosis of the disorder, which can lead to better management and treatment of the symptoms.