Diagnostic Services for Metachromatic Leukodystrophy

Proven and certified diagnostic services delivering reliable results for Metachromatic Leukodystrophy diagnosis using advanced analytical techniques including biomarker and genetic testing.

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Premium diagnostic services for
Metachromatic Leukodystrophy.
From biomarker to genetic confirmation.

Path to MLD Diagnosis

Diagnosis of MLD begins with a biomarker test. With a positive test result, we can provide genetic molecular testing for confirmation. This service supports the diagnosis of MLD in at-risk patients showing specific clinical symptoms, an individual who has a family history of MLD, or in newborn screening.

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.

MLD Diagnostic Pathway

Available biomarker and genetic tests:

DiseaseEnzyme TestsBiomarker TestsGenetic Test
Metachromatic Leukodystrophy (MLD)--SulfatidesARSA, SUMF1, PSAP

Differential diagnosis options:

Disease NameEnzyme TestsBiomarker TestsGenetic Tests
Tay-sachsHexosaminidase A--


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


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

About Metachromatic Leukodystrophy

What is MLD?

MLD is a fatal, inherited, neurometabolic disease that causes severe neurological impairment leading to a vegetative state. As its name suggests, metachromatic leukodystrophy (MLD) is a type of leukodystrophy. It is one of a group of >30 heterogeneous genetic disorders that affect the white matter of the central and/or peripheral nervous system.

What causes MLD?

MLD is caused by a defect in the arylsulfatase A (ARSA) gene resulting in reduced or no ARSA enzyme activity. Due to this enzyme deficiency, sulfatides can build up around the protective layer that surrounds the nerves, the myelin sheath, leading to demyelination.

What are the symptoms of MLD?

Initial manifestations of metachromatic leukodystrophy (MLD) can vary by age of onset but typically include developmental, motor, cognitive, and behavioral symptoms that progress to loss of movement, dysphagia, a vegetative state, and death. Early symptoms are nonspecific and often difficult to identify, leading to delayed referrals and diagnosis.

Are there differential diagnoses for MLD?

MLD shares a clinical presentation with many other diseases and disorders. Multiple sulfatase deficiency and saposin B deficiency show notable overlap with ARSA deficiency and may exhibit a clinical presentation similar to metachromatic leukodystrophy (MLD). Other neurodegenerative disorders can mimic MLD such as Krabbe, Tay-Sachs, or Spinal Muscular Atrophy.

How to Order Diagnostic Services for MLD

Ordering Diagnostic Kits

Our Diagnostic Services for MLD include comprehensive options for biochemical and genetic testing. Additionally, you can choose complete panel diagnostic programs with combined enzyme testing, biomarker testing, and genetic confirmation using full gene sequencing.

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 through our easy and secure WEBPORTAL and receive your electronic medical report in five simple steps.

Five Simple Steps


1Order Sampling Kit

Blood Drop

2Collect the Sample


3Register the DBS Card


4Return the Sample


5Receive your Report

Diagnostic Services

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

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Pharma supported Services

MLD diagnostics are supported by Pharma in some regions. Please visit our WEBPORTAL to see if diagnostics are supported in your area.

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