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Please click on the specific disease for further information.

Test# Hereditary Disease
Category
D162 Hyperuricosuria and Hyperuricemia (HUU) Kidney/Genitourinary
D152 Imerslund-Gräsbeck Syndrome (I-GS), CUBN-related Metabolic
D128 Malignant Hyperthermia Pharmacogenetic
D119 Myotonia Congenita Muscular
D186 Neuronal Ceroid Lipofuscinosis 5 (NCL5) Neurologic
D348 Dental Hypomineralization (DH)/Raine Syndrome * Skeletal
D105 Trapped Neutrophil Syndrome (TNS) Blood

* English information page currently in progress. Click here for the german version.

If you cannot find the disease you are looking for, please contact us. Some tests might be in the process of development or simply not yet listed.

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