Short Description

NGS genetic DNA test detecets for variant and mutation detection in ATRX gene for Alpha-thalassemia/mental retardation syndrome

PreTest Information

Clinical History of Patient who is going for ATRX Gene Alpha-thalassemia/mental retardation syndrome NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with ATRX Gene Alpha-thalassemia/mental retardation syndrome

Detail Description

ATRX Gene Alpha-thalassemia/mental retardation syndrome NGS Genetic DNA Test

Alpha-thalassemia/mental retardation syndrome (ATR-X) is a rare genetic disorder that affects multiple organs and systems in the body. It is caused by mutations in the ATRX gene, which provides instructions for making a protein that helps regulate gene expression. ATR-X syndrome is characterized by developmental delays, intellectual disability, distinctive facial features, and abnormalities of the genitalia. It is also associated with anemia, seizures, and skeletal abnormalities.

Symptoms of ATR-X syndrome

The symptoms of ATR-X syndrome can vary widely from person to person. Some of the common symptoms include:

• Developmental delays
• Intellectual disability
• Speech and language delays
• Distinctive facial features, including a small head, a prominent forehead, a small jaw, and a wide nose
• Abnormalities of the genitalia, including undescended testicles and a small penis
• Anemia
• Seizures
• Skeletal abnormalities, including scoliosis and joint deformities

Diagnosis of ATR-X syndrome

ATR-X syndrome is typically diagnosed based on a combination of clinical evaluation, genetic testing, and imaging studies. A physical exam can reveal characteristic facial features, skeletal abnormalities, and abnormalities of the genitalia. Blood tests can be used to diagnose anemia and other blood disorders. Genetic testing, such as next-generation sequencing (NGS), can be used to identify mutations in the ATRX gene. Imaging studies, such as MRI and CT scans, can be used to evaluate skeletal abnormalities and other organ systems affected by the disorder.

NGS Genetic DNA Test for ATR-X syndrome

Next-generation sequencing (NGS) is a powerful genetic testing technology that can be used to identify mutations in the ATRX gene associated with ATR-X syndrome. NGS can analyze large amounts of DNA quickly and accurately, making it an efficient and reliable diagnostic tool. The cost of NGS genetic testing for ATR-X syndrome in India is typically around INR 20,000.

Conclusion

ATR-X syndrome is a rare genetic disorder that can cause a wide range of symptoms, including developmental delays, intellectual disability, distinctive facial features, and abnormalities of the genitalia. Diagnosis of ATR-X syndrome typically involves a combination of clinical evaluation, genetic testing, and imaging studies. Next-generation sequencing (NGS) genetic testing can be used to identify mutations in the ATRX gene associated with the disorder. The cost of NGS genetic testing for ATR-X syndrome in India is typically around INR 20,000.

If you suspect that you or a loved one may have ATR-X syndrome, it is important to consult with a genetic counselor or healthcare provider for proper diagnosis and management of the disorder.

For further information and DNA testing services, contact DNA Labs India.

ATRX (Alpha Thalassemia/Mental Retardation Syndrome X-Linked) is a gene associated with a rare genetic disorder known as ATR-X syndrome. This syndrome primarily affects males and is characterized by a combination of intellectual and developmental disabilities, facial abnormalities, alpha thalassemia (a type of anemia), and other health issues.

Genetic testing for ATR-X syndrome involves analyzing the ATRX gene using Next-Generation Sequencing (NGS) technology. NGS allows for the comprehensive analysis of the gene to identify potential mutations, deletions, or variants that may be associated with the disorder.

If you are considering genetic testing for ATR-X syndrome and the ATRX gene, it's important to consult with a medical geneticist, genetic counselor, or healthcare provider with expertise in genetics. They can guide you through the testing process, help you understand the implications of the results, and provide information about available support and management options.

Keep in mind that genetic testing is a complex process, and the interpretation of results requires specialized knowledge. A healthcare professional can provide personalized guidance based on your specific situation and family history.