Short Description

NGS genetic DNA test detecets for variant and mutation detection in BCAP31 gene for Deafness, dystonia, and cerebral hypomyelination, X-linked

PreTest Information

Clinical History of Patient who is going for PTPN23 Gene Ciliogenesis related disorder NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PTPN23 Gene Ciliogenesis related disorder NGS Genetic DNA Test gene PTPN34

Detail Description

BCAP31 Gene Deafness, Dystonia, and Cerebral Hypomyelination: X-linked NGS Genetic DNA Test Cost INR 20000

BCAP31 gene mutations have been linked to a rare X-linked disorder that affects the nervous system. This disorder is characterized by a combination of deafness, dystonia, and cerebral hypomyelination. The disorder is caused by mutations in the BCAP31 gene, which is located on the X chromosome.

Symptoms of BCAP31 Gene Mutation

The symptoms of BCAP31 gene mutation vary from person to person. Some people may have mild symptoms, while others may have severe symptoms. The most common symptoms of BCAP31 gene mutation include:

• Deafness
• Dystonia
• Cerebral hypomyelination
• Muscle weakness
• Seizures
• Developmental delay

Diagnosis of BCAP31 Gene Mutation

The diagnosis of BCAP31 gene mutation is made through genetic testing. NGS Genetic DNA Test is the most accurate and reliable method of detecting BCAP31 gene mutations. This test is performed using a blood sample or a saliva sample.

If you or your child has symptoms of BCAP31 gene mutation, it is important to get tested as soon as possible. Early diagnosis and treatment can help to improve the quality of life of the affected person.

Cost of NGS Genetic DNA Test for BCAP31 Gene Mutation

The cost of NGS Genetic DNA Test for BCAP31 Gene Mutation in India is approximately INR 20000. The cost may vary depending on the location and the laboratory where the test is performed.

Conclusion

BCAP31 gene mutation is a rare X-linked disorder that affects the nervous system. The disorder is characterized by a combination of deafness, dystonia, and cerebral hypomyelination. The most accurate and reliable method of detecting BCAP31 gene mutations is NGS Genetic DNA Test. Early diagnosis and treatment can help to improve the quality of life of the affected person.

If you or your child has symptoms of BCAP31 gene mutation, it is important to consult a genetic counselor and get tested as soon as possible.

For more information about NGS Genetic DNA Test for BCAP31 Gene Mutation, you can contact DNA Labs India.