Fluorometric Enzyme Assay with and without Lalistat inhibition
Wolman, Cholesteryl Ester Storage; Wolman Disease; Cholesteryl Ester Storage Disease; Lysosomal Acid Lipase Enzyme; LAL; LAL-D; LALD
Seattle Children's Biochemical Genetics
Other Reference Test
Children: 2-4 mL Whole Blood; Infant: 3 completely filled blood spots (front and back)
Complete required Seattle Children's Biochemical Genetics requisition and Patient Info Section on requisition. Collect Monday-Wednesday, and Thursday only before 1200, no weekends or holidays. Whole blood must be shipped same day as drawn. Place blood on Blood Spot paper. A minimum of three full circles are required if using a newborn screening card. Blood must saturate front and back of card.
Dried Blood Spots: Room Temp: 1 Week; Refrigerated: 1 Month; Frozen: 3 Months
4 mL Whole Blood or 3 Blood Spots
2 mL Whole Blood or 3 Blood Spots
Whole blood must be shipped same day as drawn room temp. Allow blood spots to dry for 3 hours before packing to ship. Submit completed Seattle Children's Biochemical Genetics requisition with specimen room temp or refrigerated Monday-Thursday only, no weekend or holidays.
Ok to send on outpatients and inpatients if Seattle Children's Biochemical Genetics requisition is completed with Patient Information. This test provides Enzymatic analysis of Acid Lipase for Confirmation of Clinical Diagnosis. Acid Lipase is deficient in Wolman Disease and/or Cholesteryl Ester Storage. NOTE: If MD is also ordering Leukocyte Lysosomal Enzymes to Jefferson, do not send Acid Lipase to Seattle, as Jefferson will perform ONLY if it is noted to do Acid Lipase on the Jefferson Patien