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Test#
Hereditary Disease
Category
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
