Multiple Sulfatase Deficiency, Blood Spot

Use

This test supports the biochemical diagnosis of multiple sulfatase deficiency, a rare autosomal recessive lysosomal storage disorder. It is characterized by the accumulation of sulfated oligosaccharides due to a deficiency in multiple sulfatase enzymes. The test functions as a screening panel for individuals presenting with clinical signs and symptoms that suggest multiple sulfatase deficiency. Positive results from this screening test indicate the need for additional biochemical or molecular testing to confirm a diagnosis. It is not useful for carrier detection.