Diagnostic Services for Lysosomal Acid Lipase Deficiency

A proven and certified diagnostic service delivering reliable results for lysosomal acid Lipase deficiency (LALD) diagnosis using advanced analytical techniques including enzyme and genetic testing.

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Premium diagnostic services for LAL Deficiency.
From enzyme to genetic confirmation.

Path to LALD Diagnosis

Our service is ideal for identification of LAL Deficiency in at-risk patients showing specific clinical symptoms or for an individual or family member who has a family history of LALD.

Testing is fast and safe using Dried Blood Spot (DBS) cards. This simple and minimally invasive technique supplies enough sample for biochemical testing and in most cases genetic confirmation testing as well.

Available enzymatic and genetic tests:

DiseaseEnzyme TestsBiomarker TestsGenetic Tests
Lysosomal acid Lipase deficiencyLAL (Lysosomal acid Lipase)--LIPA

Differential diagnosis options:

DiseaseEnzyme TestsBiomarker TestsGenetic Tests
Gaucher DiseaseGBA (acid β-glucosidase)Lyso-GL-1 (Lyso-Gb1)GBA
ASMD (Niemann-Pick Type A/B)ASM (Acid Sphingomyelinase)Lyso-Sphingomyelin (Lyso-SPM)SMPD1
Niemann-Pick Type C1/D----NPC1
Niemann-Pick Type C2----NPC2

Quality:

Fully validated and accredited* according to the highest quality standards for Medical Laboratories (ISO 15189).

Methodologies:

  • Enzyme assays by Clinical Mass Spectrometry.
  • Genetics by Sanger and Next-Generation Sequencing platforms.

About LALD

What is LAL deficiency?

Lysosomal acid Lipase deficiency (LALD) is an autosomal recessive genetic disease. Lysosomal acid Lipase (LAL) plays an important role in breaking down cholesteryl esters and triglycerides into low density lipoprotein particles, free cholesterol, and free fatty acids. The lack of the LAL enzyme can lead to cholesteryl esters and triglycerides accumulating in a number of body organs including the liver, spleen, gut, blood vessel walls, and other important organs.

Which mutation causes an enzyme deficiency?

The condition is caused by a mutation of the LIPA gene, which is responsible for the gene coding of the lysosomal Lipase protein (also called lysosomal acid Lipase or LAL), which results in a loss of normal protein function.

Are there diseases similar symptoms to LAL deficiency?

Clinical presentation of LAL deficiency is similar to other congentital sphingolipidoses which can result in underdiagnosis. Infants, children, and adults that suffer from LALD experience a range of serious health problems. The accumulation of fat in the walls of the gut and other organs in leads to serious digestive problems including malabsorption, a condition in which the gut fails to absorb nutrients and calories from food.

How to Order LALD Diagnostic Services

Ordering Diagnostic Kits

Our Diagnostic Service for LAL deficiency includes enzyme testing for Lysosomal acid lipase as well as any necessary genetic molecular analysis.

All of our services are available to any interested physician or healthcare professional worldwide.

As part of our diagnostic services, we supply complimentary ARCHIMEDlife sampling kits. You can order your sampling kits and diagnostic services though our easy and secure WEBPORTAL and receive your eletronic medical report in five simple steps.

Five Simple Steps


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1Order Sampling Kit

Blood Drop

2Collect the Sample

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3Register the DBS Card

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4Return the Sample

Download

5Receive your Report

Diagnostic Services

View our full selection of biochemical, biomarker, and genetic tests in our exclusive WEBPORTAL.

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