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Accurate Test Results for SOX11 Gene Mental retardation, autosomal dominant type 27 NGS Genetic DNA Test
SOX11 Gene Mental retardation, autosomal dominant type 27 NGS Genetic DNA Test Cost 20000 Rs
SOX11 Gene Mental retardation, autosomal dominant type 27 NGS Genetic DNA Test Details
Understanding SOX11 Gene and Mental Retardation, Autosomal Dominant Type 27: NGS Genetic DNA Test Cost INR 20,000
Mental retardation, also known as intellectual disability, is a condition characterized by significant limitations in intellectual functioning and adaptive behavior. It affects approximately 1-3% of the population and can be caused by various genetic and environmental factors.
One of the genetic factors that can cause mental retardation is the mutation of the SOX11 gene. Mutations in this gene have been associated with autosomal dominant type 27 (MRD27), a rare form of intellectual disability that is characterized by severe developmental delay and intellectual disability.
What is the SOX11 Gene?
The SOX11 gene is located on chromosome 2 and encodes a transcription factor that plays a crucial role in the development of the nervous system. It is involved in the proliferation, migration, and differentiation of neural stem cells, as well as the maturation and survival of neurons.
Studies have shown that mutations in the SOX11 gene can disrupt the normal development and function of the brain, leading to intellectual disability and other neurological symptoms.
What is Autosomal Dominant Type 27?
Autosomal dominant type 27 (MRD27) is a rare genetic disorder that is caused by mutations in the SOX11 gene. It is inherited in an autosomal dominant manner, which means that a person only needs to inherit one copy of the mutated gene from either parent to develop the condition.
Individuals with MRD27 typically have severe developmental delay, intellectual disability, and delayed speech and language skills. They may also have abnormal facial features, such as a small head size, a small jaw, and widely spaced eyes.
How is MRD27 Diagnosed?
MRD27 is diagnosed through genetic testing, specifically next-generation sequencing (NGS) of the SOX11 gene. NGS is a high-throughput DNA sequencing technology that can analyze large amounts of genetic data quickly and accurately.
The test involves taking a blood sample from the patient and analyzing it in a laboratory. The results of the test can confirm whether the patient has a mutation in the SOX11 gene and whether they are at risk of developing MRD27.
What are the Symptoms of MRD27?
The symptoms of MRD27 can vary from person to person, but typically include:
- Severe developmental delay
- Intellectual disability
- Delayed speech and language skills
- Abnormal facial features
- Behavioral problems
- Epilepsy or seizures
Individuals with MRD27 may also have other medical issues, such as heart defects or vision problems.
NGS Genetic DNA Test Cost
The cost of the NGS genetic DNA test for MRD27 can vary depending on the laboratory and location. In India, the cost of the test is typically around INR 20,000.
Conclusion
MRD27 is a rare genetic disorder that is caused by mutations in the SOX11 gene. It is characterized by severe developmental delay, intellectual disability, and delayed speech and language skills. The condition can be diagnosed through genetic testing, specifically NGS of the SOX11 gene. The cost of the test in India is typically around INR 20,000.
Early diagnosis and intervention can help individuals with MRD27 to manage their symptoms and improve their quality of life. If you suspect that you or a loved one may have MRD27, speak to a genetic counselor or healthcare provider about getting tested.
Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for SOX11 Gene Mental retardation, autosomal dominant type 27 NGS Genetic DNA Test
