Method for the diagnosis of metachromatic leukodystrophy
AssigneesPharm-Analyt Labor GmbH, Centogene AG
InventorsARNDT ROLFS, HERMANN MASCHER
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Abstract
The present invention is related to a method for diagnosing metachromatic leukodystrophy in a subject comprising a step a), wherein the step a) comprises detecting a biomarker in a sample from the subject, wherein the sample is selected from the group consisting of blood, dried blood, serum and plasma and wherein the biomarker is different from an enzyme.
Claims21
A method for diagnosing metachromatic leukodystrophy in a subject comprising
- a step a), wherein the step a) comprises detecting a biomarker in a sample from the subject, wherein the sample is selected from the group consisting of blood, dried blood, serum and plasma and wherein the biomarker is different from an enzyme.
-18. (canceled)
A kit for determining the presence of a biomarker in a sample from a subject, wherein the kit comprises
- a) an interaction partner of the biomarker;
- b) optionally a solid support comprising at least one capture reagent attached thereto, wherein the capture reagent binds the biomarker;
- and
- c) instructions for using the solid support to detect the biomarker,
- wherein the biomarker is free lyso-Gb1-sulfatide.
A method for diagnosing metachromatic leukodystrophy in a subject comprising
- a) determining a level of a biomarker present in a sample from the subject, wherein the biomarker is free lyso-Gb1-sulfatide, wherein lyso-Gb1-sulfatide is of formula (I)
- b) comparing the level of the biomarker present in the sample from the subject with a cut-off value indicative of whether or not the subject has metachromatic leukodystrophy or whether or not the subject is at risk of developing metachromatic leukodystrophy;
- and
- c) i) diagnosing the subject as having metachromatic leukodystrophy or as being at risk of developing metachromatic leukodystrophy, if the level of the biomarker in the sample from the subject is higher than the cut-off value;
- or
- c) ii) diagnosing the subject as not having metachromatic leukodystrophy, or as not being at risk of developing metachromatic leukodystrophy, if the level of the biomarker in the sample from the subject is lower than the cut-off value.
Dependencies are inferred from the claim text.