Short Description

NGS genetic DNA test detecets for variant and mutation detection in HEXB gene for GM2-gangliosidosis type 2

PreTest Information

Clinical History of Patient who is going for HEXB Gene GM2-gangliosidosis type 2 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with GM2-gangliosidosis type 2

Detail Description

HEXB Gene GM2-gangliosidosis type 2 NGS Genetic DNA Test: Symptoms, Diagnosis and Cost in India

GM2-gangliosidosis type 2 is a rare genetic disorder that affects the central nervous system. It is caused by mutations in the HEXB gene, which provides instructions for making an enzyme called beta-hexosaminidase B. This enzyme is involved in breaking down a fatty substance called GM2 ganglioside.

Individuals with GM2-gangliosidosis type 2 have a deficiency in beta-hexosaminidase B, which causes GM2 ganglioside to accumulate in the brain and nervous system. This accumulation leads to the progressive destruction of nerve cells, resulting in a range of symptoms.

Symptoms of GM2-gangliosidosis type 2

The symptoms of GM2-gangliosidosis type 2 usually appear in early childhood and worsen over time. The severity and progression of the disease can vary widely among affected individuals. Common symptoms include:

• Developmental delay
• Progressive loss of motor skills
• Seizures
• Blindness
• Deafness
• Muscle stiffness
• Difficulty swallowing
• Intellectual disability
• Behavioral problems

Diagnosis of GM2-gangliosidosis type 2

GM2-gangliosidosis type 2 can be diagnosed through genetic testing. Next-generation sequencing (NGS) is a powerful tool for identifying mutations in the HEXB gene. NGS can detect a range of genetic changes, including single nucleotide variants, insertions, deletions, and copy number variations.

NGS testing can be performed on a blood or saliva sample. The sample is sent to a laboratory, where the DNA is extracted and sequenced. The results are analyzed by a team of genetic counselors and medical professionals, who interpret the findings and provide a diagnosis.

Cost of GM2-gangliosidosis type 2 NGS Genetic DNA Test in India

The cost of GM2-gangliosidosis type 2 NGS genetic DNA testing in India can vary depending on the laboratory and the specific test ordered. On average, the cost of NGS testing for genetic disorders ranges from INR 15,000 to INR 25,000.

DNA Labs India is a leading provider of genetic testing services in India. They offer a range of NGS tests for genetic disorders, including GM2-gangliosidosis type 2. The cost of the test at DNA Labs India is INR 20,000.

Conclusion

GM2-gangliosidosis type 2 is a rare genetic disorder that can cause a range of symptoms. NGS genetic DNA testing is an effective way to diagnose the disease and provide early intervention and treatment. DNA Labs India offers affordable and accurate NGS testing for GM2-gangliosidosis type 2 and other genetic disorders.

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 HEXB Gene GM2-gangliosidosis type 2 NGS Genetic DNA Test