Short Description

NGS genetic DNA test detecets for variant and mutation detection in ARX gene for Lissencephaly, X-linked type 2

PreTest Information

Clinical History of Patient who is going for ARX Gene Lissencephaly, X-linked type 2 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ARX Gene Lissencephaly, X-linked type 2 NGS Genetic DNA Test gene ARX

Detail Description

ARX Gene Lissencephaly, X-linked type 2 NGS Genetic DNA Test

Introduction: ARX Gene Lissencephaly, X-linked type 2 is a rare genetic disorder that affects brain development. It is caused by mutations in the ARX gene and affects males more often than females. The disorder can cause a range of symptoms that vary in severity. Early diagnosis is crucial for effective treatment and management of symptoms.

Symptoms:

The symptoms of ARX Gene Lissencephaly, X-linked type 2 can vary widely, but may include:

• Developmental delays
• Seizures
• Intellectual disability
• Muscle weakness or spasticity
• Poor muscle tone
• Difficulties with speech and language
• Abnormal eye movements

Diagnosis:

ARX Gene Lissencephaly, X-linked type 2 can be diagnosed through genetic testing. This can include Next Generation Sequencing (NGS) testing, which is a cutting-edge technology that can quickly and accurately sequence large amounts of DNA. NGS testing can identify mutations in the ARX gene that are associated with the disorder. A diagnosis can also be made through a combination of clinical evaluation, medical history, and other diagnostic tests.

NGS Genetic DNA Test Cost:

The cost of an NGS Genetic DNA Test for ARX Gene Lissencephaly, X-linked type 2 in India is approximately INR 20,000. This cost may vary depending on the specific laboratory and testing method used.

Treatment and Management:

There is currently no cure for ARX Gene Lissencephaly, X-linked type 2, but treatment can help manage symptoms and improve quality of life. This may include medication to control seizures, physical therapy to improve muscle strength and coordination, and speech therapy to improve communication skills. Early intervention and ongoing support are crucial for individuals with the disorder.

Conclusion:

ARX Gene Lissencephaly, X-linked type 2 is a rare genetic disorder that can cause a range of symptoms. Early diagnosis through genetic testing is important for effective treatment and management of symptoms. NGS Genetic DNA Testing is an accurate and efficient method of identifying mutations in the ARX gene. The cost of the test in India is approximately INR 20,000. Treatment and management can help improve quality of life for individuals with the disorder.