Short Description

NGS genetic DNA test detecets for variant and mutation detection in GAA gene for Pompe disease

PreTest Information

Clinical History of Patient who is going for GAA Gene Pompe disease NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with GAA Gene Pompe disease

Detail Description

GAA Gene Pompe Disease NGS Genetic DNA Test Cost INR: 20000 Symptoms Diagnosis

Genetic testing has revolutionized the medical industry by enabling doctors to diagnose genetic disorders early on. Pompe disease is one such genetic disorder that is caused by a deficiency in the GAA gene. The disease affects the muscles and leads to weakness and difficulty in breathing. If left untreated, the disease can be life-threatening. In this blog, we will discuss Pompe disease, the role of the GAA gene, its symptoms, diagnosis, and the cost of the NGS Genetic DNA Test offered by DNA Labs India.

What is Pompe Disease?

Pompe disease is a rare genetic disorder that is caused by the deficiency of the enzyme alpha-glucosidase. This enzyme is responsible for breaking down glycogen, a complex sugar stored in the body. In patients with Pompe disease, the glycogen accumulates in the muscles and other tissues, leading to weakness and difficulty in breathing. The disease can range from a mild form to a severe form that can be life-threatening.

The Role of GAA Gene in Pompe Disease

The GAA gene provides instructions for making the alpha-glucosidase enzyme. Mutations in this gene can lead to a deficiency of the enzyme, causing Pompe disease. The disease is inherited in an autosomal recessive pattern, which means that an individual must inherit two copies of the mutated gene, one from each parent, to develop the disease.

Symptoms of Pompe Disease

The symptoms of Pompe disease can vary depending on the severity of the disease. In infants, the symptoms can include:

• Weakness in the muscles
• Poor feeding
• Floppy muscles
• Breathing difficulties

In adults, the symptoms can include:

• Weakness in the muscles
• Difficulty in breathing
• Difficulty in swallowing
• Enlarged heart

Diagnosis of Pompe Disease

Early diagnosis of Pompe disease is crucial to prevent further complications. The diagnosis is usually made through genetic testing, enzyme testing, and muscle biopsy. Genetic testing involves analyzing the GAA gene to detect any mutations that may be causing the disease. Enzyme testing involves measuring the levels of alpha-glucosidase in the blood. Muscle biopsy involves taking a small sample of muscle tissue to examine under a microscope.

NGS Genetic DNA Test Cost INR: 20000

DNA Labs India offers NGS Genetic DNA Test for the diagnosis of Pompe disease. The test is done using next-generation sequencing technology and can detect mutations in the GAA gene. The test is non-invasive and involves taking a blood sample. The cost of the test is INR 20000, and the results are usually available within 3-4 weeks.

Conclusion

Pompe disease is a rare genetic disorder that can have severe consequences if left untreated. Early diagnosis is crucial to prevent further complications. DNA Labs India offers NGS Genetic DNA Test for the diagnosis of Pompe disease at an affordable cost of INR 20000. If you suspect that you or your child may have Pompe disease, we recommend getting in touch with a doctor and getting tested as soon as possible.

For more information on genetic testing and other services offered by DNA Labs India, visit our website or contact us at info@dnaplus.in.

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 GAA Gene Pompe disease NGS Genetic DNA Test