Short Description

NGS genetic DNA test detecets for variant and mutation detection in ATRX gene for Mental retardation with hypotonic facies syndrome, X-linked

PreTest Information

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

Detail Description

ATRX Gene Mental Retardation with Hypotonic Facies Syndrome - X-Linked NGS Genetic DNA Test

ATRX gene is an important gene that plays a crucial role in the development of the brain. It is responsible for the production of a protein that is essential for the proper functioning of the brain cells. Any changes in the ATRX gene can lead to various developmental disorders, including mental retardation with hypotonic facies syndrome.

Symptoms of ATRX Gene Mental Retardation with Hypotonic Facies Syndrome

The symptoms of ATRX gene mental retardation with hypotonic facies syndrome may vary from person to person. Some of the common symptoms include:

• Mental retardation
• Hypotonia (low muscle tone)
• Facial abnormalities such as a small head, small jaw, and widely spaced eyes
• Delayed speech development
• Seizures
• Behavioral problems

Diagnosis of ATRX Gene Mental Retardation with Hypotonic Facies Syndrome

ATRX gene mental retardation with hypotonic facies syndrome is diagnosed through genetic testing. The most common genetic test used for the diagnosis of this condition is the X-Linked NGS Genetic DNA Test. This test is a next-generation sequencing test that analyzes the DNA sequence of the ATRX gene to look for any changes or mutations that may be responsible for the condition.

The X-Linked NGS Genetic DNA Test is a highly accurate test that can detect even the smallest changes in the DNA sequence. It is a non-invasive test that requires only a small blood sample for analysis.

Cost of X-Linked NGS Genetic DNA Test

The cost of the X-Linked NGS Genetic DNA Test for the diagnosis of ATRX gene mental retardation with hypotonic facies syndrome is INR 20,000.

Conclusion

ATRX gene mental retardation with hypotonic facies syndrome is a rare genetic disorder that can cause developmental delays and other symptoms. The X-Linked NGS Genetic DNA Test is an accurate and non-invasive test that can help diagnose this condition. If you or your loved one is experiencing any of the symptoms mentioned above, it is recommended to consult a healthcare professional for further evaluation and testing.

At DNA Labs India, we offer a wide range of genetic testing services, including the X-Linked NGS Genetic DNA Test for the diagnosis of ATRX gene mental retardation with hypotonic facies syndrome. Our team of highly qualified genetic counselors and healthcare professionals can help you understand your test results and provide you with personalized recommendations for your health and well-being.

Contact us today to learn more about our genetic testing services and how we can help you.