Short Description

NGS genetic DNA test detecets for variant and mutation detection in NAGLU gene for Mucopolysaccharidosis type 3B

PreTest Information

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

Detail Description

NAGLU Gene Mutation: A Genetic Disorder - Symptoms, Diagnosis, and DNA Test Cost in India

Mucopolysaccharidosis type 3B (MPS 3B) is a genetic disorder that results in the accumulation of a complex sugar molecule called heparan sulfate in the body's tissues and organs. MPS 3B is caused by a mutation in the NAGLU gene, which provides instructions for producing an enzyme called alpha-N-acetylglucosaminidase. This enzyme is responsible for breaking down heparan sulfate, and the mutation in the NAGLU gene disrupts its function.

Symptoms of MPS 3B

MPS 3B is a progressive disorder that affects multiple systems of the body. The symptoms of MPS 3B usually become evident between the ages of 2 and 6 years and worsen over time. The common symptoms of MPS 3B include:

• Developmental delay
• Behavioral problems, such as hyperactivity and aggression
• Speech and language difficulties
• Seizures
• Loss of vision and hearing
• Skeletal abnormalities
• Organ enlargement
• Difficulty breathing and swallowing

Diagnosis of MPS 3B

The diagnosis of MPS 3B is based on a combination of clinical evaluation, imaging studies, and laboratory tests. The clinical evaluation includes a detailed medical history and physical examination to identify the characteristic features of MPS 3B. Imaging studies such as X-rays and MRI scans are used to detect skeletal abnormalities and organ enlargement. Laboratory tests include measuring the activity of the alpha-N-acetylglucosaminidase enzyme in the blood or urine and genetic testing to identify the NAGLU gene mutation.

DNA Test for NAGLU Gene Mutation

The genetic test for NAGLU gene mutation is a Next Generation Sequencing (NGS) test that analyzes the patient's DNA to identify the mutation. The NGS test is a highly accurate and reliable method of detecting genetic mutations. The cost of the NGS test for NAGLU gene mutation in India is around INR 20,000. The test can be performed on a blood or saliva sample and takes about 2 to 4 weeks for the results to be available.

Conclusion

Mucopolysaccharidosis type 3B is a rare genetic disorder caused by a mutation in the NAGLU gene. The disorder can cause severe developmental and behavioral problems, as well as physical disabilities. The diagnosis of MPS 3B is based on clinical evaluation, imaging studies, and laboratory tests, including genetic testing for the NAGLU gene mutation. The NGS test for NAGLU gene mutation is a reliable and accurate method of detecting the mutation, and the cost of the test in India is around INR 20,000.

If you suspect that you or your child may have MPS 3B or if you have a family history of the disorder, it is recommended that you consult a genetic counselor or a medical professional for further evaluation and testing.

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 NAGLU Gene Mucopolysaccharidosis type 3B NGS Genetic DNA Test