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Please click on the specific disease for further information.

Test# Hereditary Disease
D143 Factor VII Deficiency Blood
D162 Hyperuricosuria and Hyperuricemia (HUU) Kidney/Genitourinary
D170 Hypocatalasia (Acatalasemia) Metabolic
D114 Imerslund-Gräsbeck Syndrome (I-GS) Metabolic
D128 Malignant Hyperthermia Pharmacogenetic
D130 Musladin-Lueke Syndrome Skin
D178 Neonatal Cerebellar Cortical Abiotrophy (NCCD) Neurologic
D316 Primary Open Angle Glaucoma (POAG) Eye
D116 Pyruvate Kinase Deficiency Metabolic

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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