- Patient Preparation
- Dried Blood Spot (DBS): Whatman 903 Protein Saver Card (filter paper).
Whole blood: Yellow (ACD Solution A). Also Acceptable: Lavender (K2EDTA), Lavender (K3EDTA) or Green (Sodium heparin).
- Specimen Preparation
- DBS: Whole blood collected on filter paper by direct puncture and dried.
Whole blood collected by venipuncture in Yellow (ACD Solution A) or Lavender (K2EDTA), Lavender (K3EDTA) or Green (Sodium heparin) and then spotted on filter paper and dried.
Allow blood to completely air dry before transporting for a minimum of 4 hours to overnight. Two circles of whole blood. (Min: 1 circle)
Whole Blood: Transport 1 mL whole blood. (Min: 0.5 mL)
- Storage/Transport Temperature
- DBS: Room temperature. Also acceptable: Refrigerated.
Whole Blood: Refrigerated. Also acceptable: Room temperature.
- Unacceptable Conditions
- DBS: Samples transported before blood is dried. Blood not soaked through to the back of the filter paper card. Heavily saturated, clotted, or double-spotted samples. Samples with evidence of milking or squeezing the puncture site or of contamination by alcohol or other liquids.
- Additional information is required: Clinical Indication for testing.
- DBS: Ambient : 1 week; Refrigerated: 1 week; Frozen: 1 month
Whole Blood: Ambient : 3 days; Refrigerated: 3days; Frozen: Unacceptable
Lysosomal acid lipase activity is reported in nanomoles hydrolyzed per hr per DBS punch.
|Component Test Code*||Component Chart Name||LOINC|
|2012267||Lysosomal Acid Lipase, DBS Interp||48767-8|
|2012268||Lysosomal Acid Lipase, Dried Blood Spot||73958-1|
- Cholesterol Ester Storage Disease
- LAL deficiency
- LIPA deficiency
- Lysosomal acid lipase deficiency
- Wolman Disease