Short Description

NGS genetic DNA test detecets for variant and mutation detection in ABCD1 gene for Adrenoleukodystrophy, x-linked

PreTest Information

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

Detail Description

ABCD1 Gene Adrenoleukodystrophy: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost in India

Adrenoleukodystrophy (ALD) is a rare genetic disorder that affects the nervous system and the adrenal glands. It is caused by a mutation in the ABCD1 gene, which is responsible for the production of a protein that helps break down certain types of fats in the body. When this protein is missing or not functioning properly, the fats accumulate in the tissues and cause damage to the nervous system and the adrenal glands.

Symptoms of ABCD1 Gene Adrenoleukodystrophy

The symptoms of ABCD1 gene adrenoleukodystrophy can vary depending on the age of onset and the severity of the disease. In childhood-onset ALD, symptoms usually appear between the ages of 4 and 10 and progress rapidly. These symptoms may include:

• Behavioral problems
• Difficulty with schoolwork
• Loss of vision
• Hearing loss
• Seizures
• Difficulty swallowing
• Difficulty walking or standing
• Coma

In adult-onset ALD, the symptoms may be milder and progress more slowly. These symptoms may include:

• Weakness or stiffness in the legs
• Difficulty with coordination and balance
• Bladder or bowel dysfunction
• Sexual dysfunction
• Depression or anxiety

Diagnosis of ABCD1 Gene Adrenoleukodystrophy

The diagnosis of ABCD1 gene adrenoleukodystrophy is usually made by a combination of clinical examination, imaging studies, and genetic testing. MRI scans can detect changes in the brain and spinal cord that are characteristic of the disease. Blood and urine tests can also help to confirm the diagnosis. Genetic testing can identify the specific mutation in the ABCD1 gene that is responsible for the disease.

NGS Genetic DNA Test Cost for ABCD1 Gene Adrenoleukodystrophy in India

NGS genetic DNA testing for ABCD1 gene adrenoleukodystrophy is available in India and costs approximately INR 20,000. This test uses next-generation sequencing technology to analyze the entire coding region of the ABCD1 gene and identify any mutations that may be present. This test is highly accurate and can detect mutations that may be missed by other types of genetic testing. It can also provide information about the carrier status of family members and the risk of passing the disease on to future generations.

Conclusion

ABCD1 gene adrenoleukodystrophy is a rare genetic disorder that can cause significant neurological and adrenal dysfunction. Early diagnosis and treatment are essential for improving outcomes and preventing the progression of the disease. NGS genetic DNA testing is a highly accurate and reliable method for identifying mutations in the ABCD1 gene and can provide important information about carrier status and the risk of passing the disease on to future generations. If you suspect that you or a family member may be at risk for ABCD1 gene adrenoleukodystrophy, talk to your doctor about genetic testing options.