Short Description

NGS genetic DNA test detecets for variant and mutation detection in SMARCA1 gene for Mental retardation X-linked, SMARCA1 related

PreTest Information

Clinical History of Patient who is going for SMARCA1 Gene Mental retardation X-linked, SMARCA1 related NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with SMARCA1 Gene Mental retardation X-linked, SMARCA1 related

Detail Description

SMARCA1 Gene and Mental Retardation X-Linked: Diagnosis, Symptoms, and NGS Genetic DNA Test Cost in India

SMARCA1 is a gene located on the X chromosome that plays a crucial role in the development and functioning of the brain. Mutations in this gene have been associated with X-linked intellectual disability (XLID), also known as mental retardation.

XLID affects around 1% of the male population and is characterized by significant limitations in intellectual functioning and adaptive behavior. Females can also be affected, but the symptoms are generally milder due to the presence of a second X chromosome.

Symptoms of SMARCA1-Related XLID

The symptoms of SMARCA1-related XLID can vary widely depending on the severity of the mutation and other factors. However, some common symptoms include:

• Delayed speech and language development
• Impaired cognitive function
• Learning difficulties
• Behavioral problems such as hyperactivity and aggression
• Seizures
• Motor coordination problems

Diagnosis of SMARCA1-Related XLID

Diagnosing SMARCA1-related XLID requires a thorough evaluation of the patient's symptoms and medical history. Genetic testing is also essential to confirm the presence of a mutation in the SMARCA1 gene.

Next-generation sequencing (NGS) is a powerful genetic testing method that can detect mutations in multiple genes simultaneously. This technology enables a more comprehensive analysis of the patient's genetic makeup, allowing for more accurate and efficient diagnosis.

NGS Genetic DNA Test Cost in India

The cost of NGS genetic testing for SMARCA1-related XLID in India can vary depending on several factors, including the specific laboratory and the type of test ordered. However, on average, the cost of this test is around INR 20,000.

It is important to note that genetic testing is generally not covered by insurance in India, and patients may need to pay for the test out of pocket.

Conclusion

SMARCA1-related XLID is a complex genetic disorder that can have a significant impact on a patient's quality of life. Timely and accurate diagnosis is essential for effective management of the condition.

NGS genetic testing is a powerful tool for diagnosing SMARCA1-related XLID and other genetic disorders. While the cost of this testing can vary, it is an investment in the patient's health and well-being.

At DNA Labs India, we offer state-of-the-art NGS genetic testing for SMARCA1-related XLID and other genetic disorders. Contact us today to learn more about our services and how we can help you.

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 SMARCA1 Gene Mental retardation X-linked, SMARCA1 related NGS Genetic DNA Test