Short Description

NGS genetic DNA test detecets for variant and mutation detection in ABCD1 gene for Adrenoleukodystrophy/Adrenomyeloneuropathy

PreTest Information

Clinical History of Patient who is going for ABCD1 Gene Adrenoleukodystrophy/Adrenomyeloneuropathy NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with ABCD1 Gene Adrenoleukodystrophy/Adrenomyeloneuropathy

Detail Description

ABCD1 Gene Adrenoleukodystrophy/Adrenomyeloneuropathy NGS Genetic DNA Test - Cost INR:20000 Symptoms Diagnosis

Adrenoleukodystrophy (ALD) and Adrenomyeloneuropathy (AMN) are two rare genetic disorders that affect the nervous system and adrenal glands. These disorders are caused by mutations in the ABCD1 gene, which codes for a protein that is responsible for transporting fatty acids into the peroxisome. When this gene is mutated, the body is unable to break down certain fatty acids, which leads to the buildup of these fatty acids in the adrenal glands and nervous system.

Symptoms of Adrenoleukodystrophy/Adrenomyeloneuropathy

The symptoms of ALD and AMN can vary depending on the age of onset and the severity of the disease. In some cases, the symptoms may not appear until adulthood. Some of the common symptoms include:

• Loss of muscle control
• Difficulty walking or standing
• Speech difficulties
• Vision problems
• Hearing loss
• Seizures
• Behavioral changes
• Adrenal gland dysfunction

Diagnosis of Adrenoleukodystrophy/Adrenomyeloneuropathy

The diagnosis of ALD and AMN is typically made through a combination of physical examination, medical history, and genetic testing. The genetic test involves analyzing the ABCD1 gene to identify any mutations that may be present. This test can be performed using NGS (Next Generation Sequencing) technology, which allows for the simultaneous analysis of multiple genes.

Cost of Adrenoleukodystrophy/Adrenomyeloneuropathy NGS Genetic DNA Test in India

The cost of the Adrenoleukodystrophy/Adrenomyeloneuropathy NGS Genetic DNA Test in India is typically around INR 20000. However, the cost may vary depending on the laboratory and the specific tests that are included in the analysis.

Conclusion

The Adrenoleukodystrophy/Adrenomyeloneuropathy NGS Genetic DNA Test is an important tool for the diagnosis of these rare genetic disorders. Early diagnosis can help to ensure that patients receive appropriate treatment and management of their symptoms. If you or a loved one is experiencing any of the symptoms of ALD or AMN, it is important to speak with a healthcare provider to determine if genetic testing is appropriate.

At DNA Labs India, we offer a wide range of genetic tests, including the Adrenoleukodystrophy/Adrenomyeloneuropathy NGS Genetic DNA Test. Our team of experts is dedicated to providing accurate and timely results to help patients and healthcare providers make informed decisions about their health. Contact us today to learn more about our genetic testing services.