Short Description

NGS genetic DNA test detecets for variant and mutation detection in SGSH gene for Mucopolysaccharidosis type 3A

PreTest Information

Clinical History of Patient who is going for SGSH Gene Mucopolysaccharidosis type 3A NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Mucopolysaccharidosis type 3A

Detail Description

SGSH Gene Mucopolysaccharidosis type 3A NGS Genetic DNA Test

Mucopolysaccharidosis type 3A, also known as Sanfilippo syndrome type A, is a rare genetic disorder that affects the body's ability to break down certain complex sugars. This condition is caused by mutations in the SGSH gene, which provides instructions for making an enzyme called sulfamidase. Without sulfamidase, the body cannot break down certain complex sugars, leading to a buildup of these substances in the body's cells and tissues. This buildup can cause serious health problems over time.

Symptoms of Mucopolysaccharidosis type 3A

The symptoms of Mucopolysaccharidosis type 3A can vary widely from person to person. Some people may experience mild symptoms, while others may have severe symptoms. Common symptoms of this condition include:

• Delayed speech development
• Behavioral problems
• Hyperactivity
• Seizures
• Vision problems
• Hearing loss
• Joint stiffness and pain
• Enlarged liver and spleen
• Abnormal skeletal development

Diagnosis of Mucopolysaccharidosis type 3A

Mucopolysaccharidosis type 3A is typically diagnosed in early childhood. Doctors will usually perform a physical exam and ask about the child's symptoms and medical history. They may also order a variety of tests to confirm the diagnosis, including:

• Urine tests to check for elevated levels of certain sugars
• Blood tests to measure the activity of certain enzymes
• Genetic testing to look for mutations in the SGSH gene
• Brain imaging tests to check for abnormalities

SGSH Gene NGS Genetic DNA Test

The SGSH gene NGS genetic DNA test is a diagnostic test that can help confirm a diagnosis of Mucopolysaccharidosis type 3A. This test uses next-generation sequencing (NGS) technology to analyze the DNA sequence of the SGSH gene. By looking for specific mutations in this gene, doctors can confirm a diagnosis of Mucopolysaccharidosis type 3A with a high degree of accuracy.

Cost of SGSH Gene NGS Genetic DNA Test

The cost of the SGSH gene NGS genetic DNA test can vary depending on where it is performed and whether insurance covers the test. In India, the cost of this test is typically around INR 20,000.

Conclusion

Mucopolysaccharidosis type 3A is a rare genetic disorder that can cause a range of symptoms, from delayed speech development to joint stiffness and pain. If you or your child is experiencing symptoms of this condition, it is important to seek medical attention as soon as possible. The SGSH gene NGS genetic DNA test can help confirm a diagnosis of Mucopolysaccharidosis type 3A, and it is available at a cost of around INR 20,000 in India.

At DNA Labs India, we offer a wide range of genetic testing services, including the SGSH gene NGS genetic DNA test. Our team of experienced geneticists and counselors can help you understand the results of your test and provide guidance and support throughout the testing process. 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 SGSH Gene Mucopolysaccharidosis type 3A NGS Genetic DNA Test