Diagnostic Services for
Leukodystrophies and genetic Leukoencephalopathies

A proven and certified diagnostic service delivering reliable results for Leukodystrophies and genetic Leukoencephalopathies using advanced analytical techniques including enzyme, biomarker, and genetic testing.

Premium diagnostic services for
Leukodystrophies and genetic Leukoencephalopathies.
From enzyme and biomarker to genetic confirmation.

Path to Diagnosis

Leukodystrophies and genetic leukoencephalopathies are a large group of genetic disorders affecting central nervous system white matter. Our service is ideal for the identification of several different types of leukodystrophies and genetic leukoencephalotpathies in at-risk patients showing specific clinical symptoms or for an individual or family member who has a family history.

*New: Fast and reliable biochemical assays for Metachromatic Leukodystrophy (MLD), Krabbe disease and X-Linked adrenoleukodystrophy (ALD) including Biomarker (Sulfatides) for MLD, are available as a pre-test prior to genetic testing.

In most cases, testing is performed using Dried Blood Spot (DBS) cards. This simple and minimally invasive technique typically supplies enough sample for biochemical testing as well as genetic confirmation testing.

Path to LSD Diagnosis

Available enzymatic and biomarker tests:

Disease Enzyme Biomarker
MLD Arylsulfatase A (ARSA) Sulfatides
Krabbe Galactosylceramidase Psychosine
GM2-gangliosidosis -
Tay Sachs / Sandhoff
β-Hexosaminidase A
Total β-Hexosaminidase (A+B)
X-ALD - C26:0 Lyso PC
C24:0 Lyso

Available single gene tests:

Disease(s) Gene OMIM # Inheritance
MLD ARSA 607574 AR
Krabbe GALC 606890 AR
GM2-gangliosidosis -
Tay Sachs / Sandhoff
GM2 613109 AR
HEXA 606869
HEXB 606873
X-ALD ABCD1 300371 XL

Available small gene panels:


Metachromatic Leukodystrophy Panel

Leukodystrophy, hypomyelinating Panel

Available large gene panels:


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.

About Leukodystrophies and genetic Leukoencephalopathies

What are Leukodystrophies and genetic Leukoencephalopathies?

Leukodystrophies are heritable disorders affecting the white matter of the central nervous system (CNS) with or without peripheral nervous system involvement. These disorders have in common glial cell or myelin sheath abnormalities. Where known, neuropathology is primarily characterized by the involvement of oligodendocytes, astrocytes, and other non‐neuronal cell types. Although in many disorders the mechanism of disease remains unknown, other cases are suspected to include significant axonal pathology.

Genetic leukoencephalopathies are disorders with significant, if not primary, white matter abnormalities that do not meet criteria for inclusion as a leukodystrophy. There is strong evidence for primary neuronal involvement and prominent systemic manifestations that overshadow the white matter abnormalities.[1]

How are Leukodystrophies and genetic Leukoencephalopathies diagnosed?

The exact diagnosis is difficult as phenotypes are variable and distinct clinical presentations can be observed within the same family. Genetic testing is leading to an expansion of the phenotypic spectrum of the leukodystrophies/encephalopathies. These findings underscore the critical importance of genetic testing for establishing a clinical and pathological diagnosis.

Clinical Symptoms:

Common symptoms may include problems with movement, balance, memory and other neurological functions.

More questions about Leukodystrophies and genetic Leukoencephalopathies  and supporting diagnostics?

How to Order Leukodystrophies and genetic Leukoencephalopathies Diagnostic Services

ARCHIMEDlife Sampling Kit

Our tests and diagnostic panels for Leukodystrophies and genetic Leukoencephalopathies typically include an enzymatic pre-test targeting enzyme deficiency and additional biomarker testing where available. In cases of positive or conspicuous pre-test results, genetic molecular analysis can be included.

These 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 electronic 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

More questions about Leukodystrophies and genetic Leukoencephalopathies?


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