You/Your Loved ONES can get screened for LAL-D with a simple blood test. Discuss test results with your doctor
Patient image is hypothetical.
Get Tested for LAL-D
(Lysosomal acid lipase deficiency)
Important to Know
LAL-D is potentially life threatening in infants
Nearly half of LAL-D patients progress to liver disease or transplant within the first 3 years of onset of symptoms
Get other family members tested if anyone receives a diagnosis of LAL-D
Testing Options
DRIED BLOOD SPOT METHOD (DBS)
A few drops of blood from a finger/heel prick or from a whole blood sample are placed on a card and LAL enzyme activity is measured
DBS Testing is easily accessible, cost effective, fast and a method of choice for diagnosis of LAL-D
Leukocyte Testing
LAL enzyme activity is measured in white blood cells extracted from whole blood
CULTURED SKIN FIBROBLAST
LAL enzyme activity can also be measured in cultured skin cells, called fibroblasts
Genetic Testing by Sequencing of LIPA gene
DNA is extracted from whole blood and LIPA gene is sequenced for mutations; although genetic testing may confirm the diagnosis of LAL-D when other means are inconclusive, it is not required to establish a diagnosis
