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chr. 22q13.3 Gene Phelan-McDermid syndrome NGS Genetic DNA Test Cost 20000 Rs
chr. 22q13.3 Gene Phelan-McDermid syndrome NGS Genetic DNA Test Details
Understanding Chr. 22q13.3 Gene Phelan-McDermid Syndrome and the Importance of NGS Genetic DNA Test
Phelan-McDermid syndrome, also known as 22q13.3 deletion syndrome, is a rare genetic disorder caused by the deletion of a small piece of chromosome 22. This deletion affects the SHANK3 gene, which plays a crucial role in the development and functioning of the brain. As a result, individuals with this syndrome may experience developmental delays, intellectual disability, delayed or absent speech, and other behavioral and neurological issues.
Symptoms of Phelan-McDermid Syndrome
The symptoms of Phelan-McDermid syndrome can vary widely from person to person. Some of the common symptoms include:
- Delayed or absent speech
- Intellectual disability
- Developmental delays
- Low muscle tone
- Autism spectrum disorder
- Seizures
- Aggressive or self-injurious behavior
It is important to note that not all individuals with Phelan-McDermid syndrome will experience all of these symptoms.
Diagnosis of Phelan-McDermid Syndrome
Diagnosing Phelan-McDermid syndrome can be challenging, as the symptoms can be similar to those of other developmental and neurological disorders. However, genetic testing can provide a definitive diagnosis.
The most common genetic test for Phelan-McDermid syndrome is a Next-Generation Sequencing (NGS) genetic DNA test. This test can detect the deletion of the SHANK3 gene on chromosome 22 and confirm a diagnosis of Phelan-McDermid syndrome.
Cost of NGS Genetic DNA Test for Phelan-McDermid Syndrome in India
The cost of NGS genetic DNA test for Phelan-McDermid syndrome in India can vary depending on the laboratory and the specific test being performed. However, on average, the cost of this test is around INR 20,000.
The Importance of NGS Genetic DNA Test for Phelan-McDermid Syndrome
NGS genetic DNA test is a valuable tool for diagnosing Phelan-McDermid syndrome. Early diagnosis can help families access appropriate medical care, therapy, and support services for their loved ones with the condition.
Additionally, genetic testing can help families better understand the genetic basis of the condition and the likelihood of passing it on to future generations. This information can help families make informed decisions about family planning and genetic counseling.
Conclusion
Phelan-McDermid syndrome can be a challenging condition to diagnose and manage. However, with the help of genetic testing, families can access the resources and support they need to provide the best possible care for their loved ones with the condition.
If you suspect that you or a family member may have Phelan-McDermid syndrome, it is important to speak with your healthcare provider about genetic testing and other diagnostic options.
At DNA Labs India, we offer a range of genetic testing services, including NGS genetic DNA test for Phelan-McDermid syndrome. Contact us today to learn more about how we can help you.
