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Genetic Disease

alg = algorithm included
Alport Syndrome
Bruton Agammaglobulinemia - X-Linked Agammaglobulinemia
Cardiovascular Disease (Non-traditional Risk Markers) - Risk Markers - CVD (Non-traditional)
Cardiovascular Disease (Traditional Risk Markers) - Risk Markers - CVD (Traditional)
Coenzyme Q Deficiency Syndromes
Cystic Fibrosis - CF alg
Developmental Delay (DD) or Mental Retardation (MR) Testing - Neurocognitive Impairments alg
Galactosemia
Glaucoma (Primary Congenital) - Glaucoma
Hearing Loss, Hereditary Nonsyndromic - Connexin 26 or 30
Hemochromatosis alg
Hemophilia A - Factor VIII Deficiency
Hereditary Hemorrhagic Telangiectasia - HHT
Hereditary Nonpolyposis Colorectal Cancer (HNPCC) - Lynch Syndrome alg
Huntington Disease - HD
Jewish Genetic Disease
Macular Degeneration, Age-Related - AMD
Mitochondrial Diseases
Narcolepsy
Paroxysmal Nocturnal Hemoglobinuria - PNH alg
Porphyrias alg
Prader-Willi Syndrome - PWS alg
Rett Syndrome - MECP2 Disorders alg
Skeletal Dysplasias
Thalassemias alg
von Willebrand Disease - vWD
 
 
 
 
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