Lysosomal Acid Lipase Full Gene Sequencing


Related Gene(s): LIPA

Human lysosomal acid lipase (LAL) hydrolyses cholesteryl esters and triglycerides in lysosomes. Deficiency of LAL caused by mutations in the LIPA gene results in two distinct clinical phenotypes: Wolman disease (WD) or cholesterol ester storage disease (CESD). Both of these are autosomal recessive disorders with an estimated incidence of 1 in 500,000 (WD) and 1 in 40,000 (CESD). Significant loss of LAL activity results in WD, which is an early-onset, fulminant disorder of infancy with massive macrophage infiltration of the liver, spleen, and other organs by cholesteryl esters and triglycerides. Death occurs early in life. CESD is commonly identified in childhood or adolescence with primary hepatic involvement of cholesteryl ester storage. CESD has a variable clinical spectrum ranging from early onset with severe cirrhosis to later onset with more slowly progressive hepatic disease and survival into adulthood.

Sequence analysis covering the coding exons (2-10) of the LIPA gene is provided to identify the disease causing mutation(s) for confirmation of a clinical diagnosis, carrier testing of individuals with a family history of the disorder, and prenatal diagnosis. Additionally, targeted mutation analysis can be performed if a previous familial mutation has already been identified.

Prior to ordering prenatal testing, please contact our laboratory at 212-241-7518 to discuss.


Specimen Requirements

Postnatal

  • For adults
  • Blood: Two 5-10 mL tubes with EDTA (lavender top) or two 5-10 mL tubes with ACD (yellow top) from the patient

  • For newborns or children
  • Blood: 2 mL in pediatric EDTA tube (lavender top) or 2 mL in pediatric ACD tube (yellow top) from the patient

Ordering Information

Shipping

  • Ship at room temperature

Turnaround Time

  • 2 weeks


Resources

General Test Requisition