Diagnostic Services for Adrenoleukodystrophy

A complete diagnostic program
From newborn screening to genetic testing from the same Dried Blood Spot.


Available biochemical tests:

1-Hexacosanoyl-2-hydroxy-sn-glycero-3-phosphocholine (C26:0 Lyso PC)
1-Lignoceroyl-2-hydroxy-sn-glycero-3-phosphocholine (C24:0 Lyso PC)
1-Behenoyl-2-hydroxy-sn-glycero-3-phosphocholine (C22:0 Lyso PC)
1-Arachidoyl-2-hydroxy-sn-glycero-3-phosphocholine (C20:0 Lyso PC)

Available genetic tests*:

Disease Gene
Adrenoleukodystrophy ABCD1

* Further genetic panels on request: Leukodystrophy, Leukoencephalopathy,
Peroxisomal disorders and more.