Short Description

Mutation in the ABCD1 gene are found to be associated with Adrenoleukodystrophy, also known as X-linked Adrenoleukodystrophy (X-ALD). It is primarily found in males. It is associated with cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency. X-ALD is a metabolic disorder characterized by impaired peroxisomal beta-oxidation of very long-chain fatty acids which is reduced to about 30% of control levels. Consequently, there is an accumulation of VLCFA in white matter of the brain, spinal cord and adrenal cortex. The loss of myelin and the progressive dysfunction of the adrenal gland are the primary characteristics of X-ALD. Adrenocortical insufficiency is reported in 70% of all male X-ALD patients prior to the onset of neurological symptoms manifesting with fatigue, nausea, weight loss, hypotension, hypoglycemia and hypogonadism. X-ALD most severely affects male hemizygotes and less severely affects female heterozygotes. The age of onset and morbidity are highly variable and progression is unpredictable.

PreTest Information

Duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory.

Detail Description

Nx GEN SEQUENCING: ADRENOLEUKODYSTROPHY Test

ADRENOLEUKODYSTROPHY (ALD) is a rare genetic disorder that affects the adrenal glands and white matter in the brain. It is caused by a mutation in the ABCD1 gene and is inherited in an X-linked recessive manner. The disease primarily affects males, although females can also be carriers of the gene mutation.

Symptoms of ADRENOLEUKODYSTROPHY

The symptoms of ADRENOLEUKODYSTROPHY can vary depending on the age of onset and the severity of the disease. In general, the disorder is characterized by progressive neurological deterioration, adrenal insufficiency, and sometimes, behavioral changes. The symptoms may include:

• Loss of coordination
• Changes in muscle tone
• Visual disturbances
• Hearing loss
• Seizures
• Difficulties with speech and language
• Difficulty swallowing
• Adrenal insufficiency
• Behavioral changes

Diagnosis of ADRENOLEUKODYSTROPHY

ADRENOLEUKODYSTROPHY can be diagnosed through genetic testing. At DNA Labs India, we offer Nx GEN SEQUENCING for ADRENOLEUKODYSTROPHY. This advanced genetic testing technique allows us to identify mutations in the ABCD1 gene with a high degree of accuracy. The test can be done using a blood or saliva sample, and results are typically available within a few weeks.

Cost of ADRENOLEUKODYSTROPHY Test

At DNA Labs India, the cost of Nx GEN SEQUENCING for ADRENOLEUKODYSTROPHY is INR 23,400. This includes the cost of sample collection, testing, and interpretation of results. We also offer genetic counseling services to help you understand the implications of your test results.

Conclusion

If you or a loved one is experiencing symptoms of ADRENOLEUKODYSTROPHY, it is important to seek medical attention as soon as possible. At DNA Labs India, we offer advanced genetic testing services to help diagnose and manage genetic disorders like ADRENOLEUKODYSTROPHY. Contact us today to learn more about our services.

Mutation in the ABCD1 gene are found to be associated with Adrenoleukodystrophy, also known as X-linked Adrenoleukodystrophy (X-ALD). It is primarily found in males. It is associated with cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency. X-ALD is a metabolic disorder characterized by impaired peroxisomal beta-oxidation of very long-chain fatty acids which is reduced to about 30% of control levels. Consequently, there is an accumulation of VLCFA in white matter of the brain, spinal cord and adrenal cortex. The loss of myelin and the progressive dysfunction of the adrenal gland are the primary characteristics of X-ALD. Adrenocortical insufficiency is reported in 70% of all male X-ALD patients prior to the onset of neurological symptoms manifesting with fatigue, nausea, weight loss, hypotension, hypoglycemia and hypogonadism. X-ALD most severely affects male hemizygotes and less severely affects female heterozygotes. The age of onset and morbidity are highly variable and progression is unpredictable.