Short Description

NGS genetic DNA test detecets for variant and mutation detection in ARX gene for Partington syndrome

PreTest Information

Clinical History of Patient who is going for ARX Gene Partington syndrome NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with ARX Gene Partington syndrome

Detail Description

ARX Gene Partington Syndrome NGS Genetic DNA Test Cost INR 20,000: Symptoms and Diagnosis

Partington syndrome, also known as Partington X-linked intellectual disability syndrome, is a rare genetic disorder that affects the brain's development and function. It is caused by mutations in the ARX gene on the X chromosome. The ARX gene provides instructions for making a protein that plays a critical role in the development of the brain during fetal development.

Partington syndrome is inherited in an X-linked recessive pattern, which means that the gene mutation is located on the X chromosome. Females have two X chromosomes, while males have one X chromosome and one Y chromosome. As a result, males are more likely to be affected by Partington syndrome than females, as they only need to inherit one copy of the mutated gene to develop the disorder.

Symptoms of Partington Syndrome

The symptoms of Partington syndrome can vary widely from person to person, but typically include:

• Intellectual disability
• Delayed speech and language development
• Muscle weakness and poor coordination
• Seizures
• Abnormal curvature of the spine (scoliosis)
• Distinct facial features, such as a small head (microcephaly), a prominent forehead, and a small jaw

Some individuals with Partington syndrome may also have behavioral problems, such as hyperactivity, aggression, or self-injurious behavior. These symptoms can vary in severity and may change over time.

Diagnosis of Partington Syndrome

Partington syndrome is typically diagnosed through genetic testing, which can identify mutations in the ARX gene. Next-generation sequencing (NGS) is a type of genetic testing that can analyze multiple genes at once and provide more comprehensive results.

NGS genetic DNA testing for Partington syndrome usually costs around INR 20,000. This test may be recommended if an individual has symptoms of the disorder, a family history of Partington syndrome, or if a healthcare provider suspects a genetic cause for intellectual disability or other developmental delays.

Conclusion

Partington syndrome is a rare genetic disorder that can cause intellectual disability, delayed speech and language development, seizures, and other symptoms. It is caused by mutations in the ARX gene on the X chromosome and is inherited in an X-linked recessive pattern. NGS genetic DNA testing can be used to diagnose Partington syndrome and typically costs around INR 20,000. If you or a loved one is experiencing symptoms of Partington syndrome, it is important to speak with a healthcare provider to determine the best course of action.

At DNA Labs India, we provide state-of-the-art genetic testing services, including NGS genetic DNA testing for Partington syndrome. Contact us today to learn more about our services and how we can help you.