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Please click on the specific disease for further information.

Test# Hereditary Disease
D341 Achromatopsia 2 (ACHM-2) Eye
D163 Cystinuria Type I-A Kidney/Genitourinary
D176 Centronuclear Myopathy (CNM) Muscular
D162 Hyperuricosuria and Hyperuricemia (HUU) Eye
D123 Congenital Myasthenic Syndrome (CMS) Neuromuscular
D128 Malignant Hyperthermia Pharmacogenetic
D175 Myotubular Myopathy 1 (MTM1) Muscular
D336 Narcolepsy Neurologic
D117 Pyruvate Kinase Deficiency (PK) Metabolic
D326 Skeletal Dysplasia 2 (SD2) Skeletal

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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