Short Description

NGS genetic DNA test detecets for variant and mutation detection in ACTG1 gene for Baraitser-Winter syndrome type 2

PreTest Information

Clinical History of Patient who is going for ACTG1 Gene Baraitser-Winter syndrome type 2 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ACTG1 Gene Baraitser-Winter syndrome type 2 NGS Genetic DNA Test gene ACTG1

Detail Description

ACTG1 Gene Baraitser-Winter Syndrome Type 2 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Baraitser-Winter Syndrome is a rare genetic disorder that affects the development of the brain and the face. The condition is caused by mutations in the ACTG1 gene. Baraitser-Winter Syndrome Type 2 is a subtype of the disorder that is characterized by a distinct facial appearance and intellectual disability.

Symptoms of Baraitser-Winter Syndrome Type 2

The symptoms of Baraitser-Winter Syndrome Type 2 can vary from person to person, but some common signs include:

• Distinct facial features, including a small head size, a high forehead, and deep-set eyes.
• Intellectual disability or developmental delay
• Seizures
• Abnormal muscle tone or movements
• Hearing or vision problems
• Heart defects

Diagnosis of Baraitser-Winter Syndrome Type 2

Baraitser-Winter Syndrome Type 2 is diagnosed through a genetic test that analyzes the ACTG1 gene. This test is called Next-Generation Sequencing (NGS). NGS is a high-throughput technology that can sequence multiple genes simultaneously, allowing for a quicker and more comprehensive analysis of genetic mutations.

NGS testing for Baraitser-Winter Syndrome Type 2 is available at DNA Labs India. The cost of the test is INR 20,000.

Conclusion

Baraitser-Winter Syndrome Type 2 is a rare genetic disorder that can cause a range of symptoms, including intellectual disability, seizures, and heart defects. If you or a loved one is experiencing any of these symptoms, it may be worth considering genetic testing for Baraitser-Winter Syndrome Type 2. DNA Labs India offers NGS testing for this condition at an affordable cost, making it more accessible to those who need it.

Remember, early diagnosis and intervention can make a big difference in managing the symptoms of Baraitser-Winter Syndrome Type 2 and improving quality of life.

For more information about genetic testing for Baraitser-Winter Syndrome Type 2 or other genetic disorders, please contact DNA Labs India.