Lysosomal 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 patient’s 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.
Tube
Dried Blood Spot
ID
Tests&Tubes0213
Additional Information
Sample type required: dried blood spot (or EDTA whole blood).
Turn around
Turnaround time stated by Glasgow Queen Elizabeth Hospital: 6 weeks
Send to
Blood Sciences LGI
(Test referred to: Glasgow Queen Elizabeth Hospital.)
Contact
For further details please contact Ä¢¹½tvÊÓƵ Pathology customer services: [email protected].
Advice
Full Referred Test details logged internally on the referred test database [BSF2REC17003]
Download
Collection Con
Instructions to lab: do not reject whole blood EDTA samples which can be spotted out (50 ul) onto a Guthrie card.
Sample REQ
Blood
Ref. Range notes
Interpretation will be provided on the report.