Short Description

NGS genetic DNA test detecets for variant and mutation detection in GM2A gene for Tay-Sachs disease AB variant

PreTest Information

Clinical History of Patient who is going for GM2A Gene Tay-Sachs disease AB variant NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Tay-Sachs disease AB variant

Detail Description

GM2A Gene Tay-Sachs Disease AB Variant NGS Genetic DNA Test Cost - DNA Labs India

Tay-Sachs disease is a rare genetic disorder that affects the nervous system. It is caused by a deficiency in an enzyme called hexosaminidase A (Hex A) which leads to an accumulation of a fatty substance called GM2 ganglioside in the brain and other tissues. This buildup causes progressive damage to the nervous system, leading to developmental delay, seizures, blindness, and eventually death. There are several types of Tay-Sachs disease, including the AB variant which is caused by mutations in the GM2A gene.

GM2A Gene

The GM2A gene provides instructions for making a protein called GM2 activator protein (GM2AP) which is involved in the breakdown of GM2 ganglioside. Mutations in this gene can lead to a deficiency in GM2AP, resulting in the accumulation of GM2 ganglioside and the development of Tay-Sachs disease, including the AB variant.

Tay-Sachs Disease AB Variant

The AB variant of Tay-Sachs disease is a rare form of the disorder that is caused by mutations in both the HEXA and GM2A genes. This variant is characterized by a later onset and a slower progression of symptoms compared to the classic infantile form of Tay-Sachs disease.

NGS Genetic DNA Test

DNA Labs India offers a Next-Generation Sequencing (NGS) genetic DNA test for Tay-Sachs disease that includes sequencing of the HEXA and GM2A genes. This test can detect mutations in these genes that may be responsible for the development of Tay-Sachs disease, including the AB variant. The cost of this test is INR 20,000.

Symptoms of Tay-Sachs Disease

The symptoms of Tay-Sachs disease can vary depending on the type and severity of the disorder. The classic infantile form of Tay-Sachs disease typically begins around 3 to 6 months of age and is characterized by developmental delay, muscle weakness, cherry-red spots in the eyes, seizures, and blindness. The AB variant of Tay-Sachs disease is characterized by a later onset and a slower progression of symptoms, which may include muscle weakness, speech difficulties, and cognitive decline.

Diagnosis of Tay-Sachs Disease

Diagnosis of Tay-Sachs disease involves a combination of clinical evaluation, genetic testing, and imaging studies. The NGS genetic DNA test offered by DNA Labs India can detect mutations in the HEXA and GM2A genes that may be responsible for the development of Tay-Sachs disease, including the AB variant. Other tests may include a blood test to measure Hex A activity and imaging studies such as an MRI to evaluate the extent of brain damage.

If you suspect that you or a loved one may have Tay-Sachs disease, it is important to consult with a healthcare provider who can provide a proper diagnosis and develop a treatment plan. DNA Labs India provides affordable and accurate genetic testing services for Tay-Sachs disease 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 GM2A Gene Tay-Sachs disease AB variant NGS Genetic DNA Test