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.

Discover our Diagnostics

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.

Available enzymatic and biomarker tests:

DiseaseEnzymeBiomarker
MLDArylsulfatase A (ARSA)Sulfatides
KrabbeGalactosylceramidasePsychosine
GM2-gangliosidosis -
Tay Sachs
β-Hexosaminidase A
GM2-gangliosidosis -
Sandhoff
Total β-Hexosaminidase (A+B)
X-ALD--C26:0 Lyso PC
C24:0 Lyso

Available single gene tests:

Disease(s)GeneOMIM #Inheritence
MLDARSA607574AR
KrabbeGALC606890AR
GM2-gangliosidosis -
Tay Sachs / Sandhoff
GM2, HEXA, HEXB613109, 606869, 606873AR
X-ALDABCD1300371XL

Available small gene panels:

PanelGenes
Metachromatic Leukodystrophy PanelARSA, ASPA, GALC, HEXA, HEXB, PSAP, SUMF1
Leukodystrophy, hypomyelinating PanelCOL4A1, CSF1R, LMNB1, RARS, COL4A2, POLR3A, NOTCH3

Available large gene panels:

PanelGenes
LeukoencephalopathyAARS2, ABCD1, ADAR, AIMP1, ARSA, ASPA, COL4A1, CSF1, DARS2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, FAM126A, GALC, GFAP, GJC2, HEPACAM, HSPD1, IFIH1, LMNB1, MLC1, NKX2-6, PLP1, POLR1C, PSAP, PYCR2, RARS, RNASEH2A, RNASEH2C, RNASET2, TREM2, TUBB4A, TYROBP, SUMF1, HTRA1, RNASEH2B, CLCN2, POLR3A, POLR3B, NOTCH3, TREX1, SAMHD1
Leukodystrophies + hereditary leukoencephalopathies (adults)AARS2, ABCD1, ACP5, ADAR, ALDH3A2, ARSA, AUH, CBS, CLN3, CLN6, CLN8, COL4A1, CSF1R, CTSD, CTSF, CYP27A1, DARS2, DDX58, DNAJC5, EIF2B1, FA2H, FUCA1, GALC, GAN, GFAP, GJC2, GLA, GLB1, HEPACAM, HEXA, HEXB, HMGCL, IFIH1, ISG15, LMNB1, MAN2B1, MANBA, MCOLN1, MFSD8, MLC1, MTHFR, NPC2, PLP1, POLR1C, PPT1, PSAP, PSMB8, RNASEH2A, RNASEH2C, TREM2, TUBB4A, TYROBP, GBE1, NPC1, SLC17A5, PEX7, COL4A2, TMEM173, HTRA1, GBA, RNASEH2B, CLCN2, CLN5, PHYH, POLR3A, POLR3B, GCDH, NOTCH3, TREX1, SAMHD1

Quality:

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

Methodologies:

  • 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.

How to Order Leukodystrophies and genetic Leukoencephalopathies Diagnostic Services

Ordering Diagnostic Kits

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.

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


hand-pointing-up

1Order Sampling Kit

Blood Drop

2Collect the Sample

desktop

3Register the DBS Card

envelope

4Return the Sample

Download

5Receive your Report

Diagnostic Services

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

Sign up NowFor new users View All ServicesFor registered users