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rare orphan genetic disease diagnostics - the university of chicago experience

The University of Chicago Genetic Services - DNA Laboratory. Established in 1996 with initiation of orphan genetic disease testing in 1998A main focus of the laboratory is on the diagnostics of rare orphan genetic disease- neurological disorders- local research expertiseSmall academic laboratory1996-1998 ~ 500-600 samples/yearcurrently ~ 1800 samples/year .

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rare orphan genetic disease diagnostics - the university of chicago experience

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    1. Rare Orphan Genetic Disease Diagnostics - The University of Chicago Experience Soma Das Department of Human Genetics The University of Chicago

    7. Tests performed: Targeted mutation analysis for any gene - 1998 (9 labs) MTM1 (X-linked myotubular myopathy) - 1999 (1 lab) LIS1 (Lissencephaly) - 1999 (1 lab) DCX (Lissencephaly) - 1999 (2 labs) UBE3A (Angelman syndrome) - 2000 (2 labs) MECP2 (Rett syndrome) - 2001 (9 labs) PANK2 (Hallervorden-Spatz syndrome/PKAN) - 2001 (1 lab) ARX (Lissencephaly, West syndrome, MR) - 2002 (3 labs) ATP7A (Menkes disease) - 2002 (2 labs) NSD1 (Sotos syndrome) - 2003 (1 lab) LMNA (Dilated cardiomyopathy) - 2004 (2 labs) Orphan Genetic Disease Testing

    8. Orphan Genetic Disease Testing - Sample Numbers

    9. Orphan Genetic Disease Testing - Sample Numbers

    13. Orphan Genetic Disease Testing - Cost

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