Short Description

NGS genetic DNA test detecets for variant and mutation detection in SMARCA2 gene for Nicolaides Baraitser syndrome

PreTest Information

Clinical History of Patient who is going for SMARCA2 Gene Nicolaides Baraitser syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SMARCA2 Gene Nicolaides Baraitser syndrome NGS Genetic DNA Test gene SMARCA2

Detail Description

SMARCA2 Gene and Nicolaides Baraitser Syndrome: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

SMARCA2 gene is a gene that codes for a protein that plays a crucial role in the development and maintenance of brain function. Any mutations in this gene can lead to Nicolaides Baraitser Syndrome (NCBRS), a rare genetic disorder that affects the development of the brain and causes intellectual disability, seizures, and other physical abnormalities.

Symptoms of NCBRS

The symptoms of NCBRS can vary from person to person, but some of the common symptoms include:

• Intellectual disability
• Delayed speech and language development
• Seizures
• Abnormalities in the shape and size of the head
• Facial dysmorphism
• Abnormalities in the hands and feet
• Joint stiffness and limited mobility

Diagnosis of NCBRS

Diagnosing NCBRS can be challenging as it is a rare disorder and the symptoms can be similar to other conditions. However, genetic testing is the most reliable way to diagnose NCBRS. Next-generation sequencing (NGS) genetic DNA test is a highly sensitive and specific test that can detect mutations in the SMARCA2 gene.

NGS genetic DNA test analyzes the entire SMARCA2 gene and detects any variations or mutations that may be causing NCBRS. The test can also detect any new mutations that may not have been previously identified.

Cost of NGS Genetic DNA Test for NCBRS

The cost of NGS genetic DNA test for NCBRS can vary depending on the laboratory and location. In India, the cost of NGS genetic DNA test for NCBRS is around INR 20,000.

Conclusion

NCBRS is a rare genetic disorder caused by mutations in the SMARCA2 gene. The symptoms of NCBRS can vary, and genetic testing is the most reliable way to diagnose the condition. NGS genetic DNA test is a highly sensitive and specific test that can detect mutations in the SMARCA2 gene. The cost of NGS genetic DNA test for NCBRS in India is around INR 20,000. Early diagnosis and management of NCBRS can help improve the quality of life for people with this condition.

If you suspect that you or your child may have NCBRS, consult with a genetic counselor or healthcare provider to discuss the diagnosis and treatment options.

For more information on genetic testing and NCBRS, contact DNA Labs India.

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 SMARCA2 Gene Nicolaides Baraitser syndrome NGS Genetic DNA Test