Disorders

Lysosomal Acid Lipase Deficiency

Synonym(s): Acid Lipase Deficiency, LAL Deficiency

Gene	Locus	Protein
LIPA	10q23.2-q23.3	Lysosomal acid lipase/cholesteryl ester hydrolase

Laboratory	Test Method	Prenatal	Carrier *
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA	• Enzyme assay
Centogene AG, Rare Disease Company - Rostock, Germany
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany
GeneDx - Gaithersburg, MD, USA
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
SA Pathology - Women's and Children's Hospital, National Referral Laboratory - North Adelaide, Australia	• Enzyme assay
Sahlgrenska University Hospital, Clinical Neurochemistry Laboratory - Mölndal, Sweden	• Analyte • Enzyme assay
Sandor Proteomics Pvt. Ltd - Hyderabad, India	• Enzyme assay
Seattle Children's Hospital, Biochemical and Molecular Genetics Laboratories - Seattle, WA, USA	• Enzyme assay
Thomas Jefferson University, Lysosomal Diseases Testing Laboratory - Philadelphia, PA, USA	• Enzyme assay

^* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.