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.

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.

Quality:

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

 

Methodologies used:

  • Enzyme and biomarker assays by Clinical Mass Spectrometry.
  • Genetics by Sanger and Next-Generation Sequencing platforms.
Path to LAL-D Diagnosis

Available enzymatic and biomarker tests:

Enzyme:
LAL (Lysosomal acid Lipase)

Available genetic tests:

Gene Associated disease(s) OMIM # Inheritance
LIPA Lysosomal acid Lipase deficiency 613497 AR

Differential diagnosis options: 

Gaucher Disease
Enzyme:
GBA (acid β-glucosidase)

Biomarker:
Lyso-GL-1 (Lyso-Gb1)

 

ASM Deficiency
Enzyme:
ASM (Acid Sphingomyelinase)

Biomarker:
Lyso-Sphingomyelin (Lyso-SPM)

Gene Associated disease(s) OMIM # Inheritance
GBA Gaucher disease, Type I 606463 AR
Gaucher disease, Type II AR
Gaucher disease, Type III AR
Gaucher disease, Type IIIC AR
SMPD1 Niemann-Pick, Type A 607608 AR
Niemann-Pick, Type B AR
NPC1 Niemann-Pick,Type C1 607623 AR
Niemann-Pick,Type D AR
NPC2 Niemann-Pick,Type C2 601015 AR

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.

Clinical Symptoms:

Common symptoms include hepatosplenomegaly, feeding difficulties, malabsorption, and hematologic abnormalities.

More questions about LAL deficiency
and supporting diagnostics?

How to Order LALD Diagnostic Services

ARCHIMEDlife Sampling Kit

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

These services are available to any interested physician or healthcare professional worldwide.

As part of our diagnostic service, 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


1Order Sampling Kit

2Collect the Sample

3Register the DBS card

4Return the Sample

5Receive your Report

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and supporting diagnostics?

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