Test Details: Deficiency of lysosomal enzyme alpha mannosidase is inherited in an autosomal recessive manner. This is a genetic disorder of metabolism characterised by immune deficiency, facial and skeletal abnormalities, hearing impairment and mental retardation. The diagnosis of alpha-mannosidosis is established in a proband by identification of deficient acid alpha-mannosidase enzyme activity in peripheral blood leukocytes or other nucleated cells such as fibroblasts.
Advanced Routine Diagnostics
Sample should reach to lab within 12 to 24 Hrs.
11 working days
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