Like many genetic or rare diseases, diagnosis of<unk>  is challenging. In order to formulate a diagnosis healthcare professionals view medical history, symptoms, physical exam, and laboratory test results. Testing Resources The Genetic Testing Registry provides information about genetic tests for<unk> . There are 62 different clinical tests available including two biochemical Genetics tests and 60 molecular genetics tests. There is also one research test available. * Clinical tests * Biochemical genetics tests (2) * Enzyme assay (2) * Molecular genetics tests (60) * Deletion/duplication analysis (22) * Sequence analysis of select exons (12) * Sequence analysis of the entire coding region (52) * Targeted variant analysis (9) * Research Tests * TFR2-Related Hereditary Haemochromatosis (1)
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Hereditary haemochromatosis
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Niemann–Pick disease, type C
Wilson's disease
Wilson–Mikity syndrome
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