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Genetic Disease

alg = algorithm included
Alport Syndrome
Bruton Agammaglobulinemia - X-Linked Agammaglobulinemia alg
Cardiovascular Disease (Non-traditional Risk Markers) - Risk Markers - CVD (Non-traditional)
Cardiovascular Disease (Traditional Risk Markers) - Risk Markers - CVD (Traditional)
Classic Galactosemia - Galactosemia, Classic
Coenzyme Q Deficiency Syndromes - Ubiquinone Deficiency
Cystic Fibrosis - CF alg
Developmental Delay (DD) or Intellectual Disability (ID) Testing - Neurocognitive Impairments alg
Freeman-Sheldon Syndrome - Distal Arthrogryposis Type 2A
Hearing Loss, Hereditary Nonsyndromic - Connexin 26 or 30
Hemochromatosis alg
Hemophilia - Factor VIII or IX Deficiency
Hereditary Hemorrhagic Telangiectasia - HHT
Huntington Disease - HD
Jewish Genetic Disease alg
Lynch Syndrome - Hereditary Nonpolyposis Colorectal Cancer (HNPCC) alg
Macular Degeneration, Age-Related - AMD
Mitochondrial Diseases
Narcolepsy
Paroxysmal Nocturnal Hemoglobinuria - PNH alg
Porphyrias alg
Prader-Willi Syndrome - PWS alg
Primary Congenital Glaucoma - Glaucoma
Rett Syndrome, Classic or Atypical - MECP2 Disorders alg
Skeletal Dysplasias
Thalassemias alg
von Willebrand Disease - VWD alg
 
 
 
 
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