NX GEN SEQ, ADRENOLEUKODYSTROPHY
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.
Parameter(s) covered : 1
Report Frequency: Sample Daily by 9 am; Report 40 Working days
Special Instruction: Duly filled Nx Gen Sequencing (NGS) Test Requisition Form (Form 40) is mandatory.
Price : ₹ 21600.00
Parameters
- Nx Gen Seq Adrenoleukodystrophy