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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

Get screened for LAL-D

You/Your Loved ONES can get screened for LAL-D with a simple blood test. Discuss test results with your doctor

Testing Options

Dried blood spot method


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

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

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

Get tested for LAL-D

Get Tested and Rule out LAL-D with a simple blood draw

Learn more about options