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Sequenom Inc. Message Board

  • unbearibull unbearibull Feb 8, 2009 8:24 PM Flag

    Harry & Dennis Lo: a new spectrum of diagnostic possibilities

    Dennis Lo talks about new testing methodologies - Relative Mutation Dosage (RMD) and Nucleic Acid Size Selection (NASS)for detecting monogenetic diseases. "A new spectrum of diagnostic possibilities" ....

    http://www.zshare.net/audio/5531116116b16932/

    Harry on the same subject - "revolutionary". Coming in the next year...

    http://www.zshare.net/audio/5531161320c4da65/

    Monogenetic diseases...

    Achondroplasia
    Adrenoleukodystrophy
    Alpha-1-antitrypsin deficiency
    Alport syndrome
    Amyotrophic lateral sclerosis
    Angelman syndrome
    Ataxia telangiectasia
    Autoimmune polyglandular syndrome
    Burkitt lymphoma
    Congenital adrenal hyperplasia
    Cystic fibrosis
    Diastrophic dysplasia
    Duchenne muscular dystrophy
    Ellis-van Creveld syndrome
    Familial Mediterranean
    Fragile X syndrome
    Friedreich's ataxia
    Gaucher disease
    Glucose galactose malabsorption
    Gyrate atrophy
    Hemophilia
    Hereditary hemochromatosis
    Huntington disease
    Immunodeficiency with hyper-IgM
    Lesch-Nyhan syndrome
    Maple syrup urine disease
    Marfan syndrome
    Menkes syndrome
    Myotonic dystrophy
    Neurofibromatosis
    Paroxysmal nocturnal hemoglobinuria
    Pendred syndrome
    Phenylketonuria
    Refsum disease
    Retinoblastoma
    Rett syndrome
    SCID-ADA ADA
    SCID-X-linked
    Sickle cell anemia
    Spinal muscular atrophy
    Spinocerebellar ataxia
    Tangier disease
    Tay-Sachs disease
    Thalassemia
    Von Hippel-Lindau syndrome
    Werner syndrome
    Wilson's disease
    Zellweger syndrome

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