The Leeds Teaching Hospitals NHS Trust

Lysosomal acid lipase deficiency screen

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 Leeds Pathology customer services:
Advice Full Referred Test details logged internally on the referred test database [BSF2REC17003]
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.
Telepath LALD1R & SA1R