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ID:957 Lysosomal Acid Lipase Deficiency Screen
Search Links: General Info : Protocols : LabTestsOnline

DescriptionBloodspot test to screen for lysosomal acid lipase deficiency (also known as cholesterol ester storage disease (CESD) or Wolman disease).
Additional InfoLysosomal Acid Lipase (LAL) Deficiency is an autosomal recessive Lysosomal Storage Disorder (LSD) that is caused by a deficiency of LAL, the enzyme that breaks down cholesteryl esters and triglycerides in the lysosomes. The clinical manifestations of LAL Deficiency span all ages with a wide spectrum of severity which is thought to relate to a patientís residual LAL levels. The more common milder form of the disease is known as cholesterol ester storage disease (CESD). The less common severe form is more commonly known as Wolman Disease.
Concurrent Testsna
Dietary Requirementsna

DepartmentBlood Sciences
SampleBlood spots - neonatal
TubeGuthrie Card
Tube Picture
Collection ConditionsLab staff : please DO NOT reject whole blood samples. Refer to lab section for further information.
Min. Vol1 spot

Ref. Range (Male)0.37 -2.30
Ref. Range (Female)0.37 -2.30
Ref. Range (Paed)0.37 -2.30
Ref. Range Notes
Units - Not Defined -
IP Acute TAT- Not Defined -
IP Routine TAT7 days
GP Acute TAT- Not Defined -
GP Routine TAT7 days
Turnround CommentNA

Originally edited by : Robert Barski. Review due on 23/02/2017 12:52:19. Published By RB on 23/02/2016 12:52:19.