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Use Cases
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Resources
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Pricing
Molecular Pathology Timeline without personnel
OSU Molecular Pathology
Lab Opens
Feb 1990
% complete
First DMD Carrier Study by PCR
jun 1990
% complete
First publication on African American DMD polymorphisms
jan 1992
% complete
Demonstrated Germline Mosaicism in DMD Carrier
mar 1992
% complete
First Missense Mutation in DMD
Jun 1993
% complete
First whole gene point mutation screen in DMD published
jun 1995
% complete
Discovered SMN Point Mutation
jun 1996
% complete
Whole gene screen of SMN cmpd heteros
jun 1998
% complete
First clinical lab to offer PTEN sequencing
oct 2000
% complete
Conclusive proof of 2 copy cis chromosome for SMN1
jun 2001
% complete
Family Studies for HNPCC for Columbus Population
jun 2005
% complete
Pilot Study of 40000 blood spots for Newborn screening for SMA completed
Jun 2008
% complete
Identified Buckeye Variant as SMN positive modifier
jun 2009
% complete
Pilot Study for SMA Carrier Testing Completed
Jun 2010
% complete
FLT3 Clinical Trial Completed
nov 2011
% complete
Molecular Milestones
Sanger Sequencing
jan 1975
% complete
Southern Developed
Feb 1975
% complete
PCR
dec 1986
% complete
Microarray
jan 1995
% complete
Capillary Electrophoresis
jun 1995
% complete
GenBank exceeds a billion bases
jun 1997
% complete
Human Genome Project published
jan 2001
% complete
Ensembl
Jan 2004
% complete
Next Gen Sequencing
jan 2005
% complete
HapMap Project
oct 2005
% complete
Junk DNA "de-junked"
jun 2012
% complete
New Testing
DMD Diagnostic
2/27/1990
% complete
DMD Carrier
3/20/1990
% complete
Cystic Fibrosis
7/31/1990
% complete
Dystrophin Western
jun 1991
% complete
MERRF, MELAS
11/5/1991
% complete
Kennedy Syndrome
12/18/1991
% complete
Fragile X
1/28/1992
% complete
Myotonic Dystrophy
10/27/1992
% complete
BCL2
9/22/1993
% complete
Huntington's Disease
9/23/1993
% complete
Kearns-Sayre Syndrome
11/2/1993
% complete
Factor V
1/26/1995
% complete
Spinal Muscular Atrophy
8/2/1995
% complete
Leber's Hereditary Optic Neuropathy
9/18/1995
% complete
Mitochondrial Panel
9/25/1995
% complete
Expansion of MERRF/MELAS
Maternal Contamination by VNTR
1/4/1996
% complete
NARP
2/2/1996
% complete
MTHFR
6/3/1996
% complete
Hepatitis C
7/2/1996
% complete
SMA Dosage (Carrier)
11/13/1996
% complete
Hemochromatosis
12/13/1996
% complete
Skeletal Dysplasia
1/17/1997
% complete
Ret-Proto-oncogene (MEN2)
3/14/1997
% complete
Thanatophoric Dysplasia
9/24/1997
% complete
t(8:21) and inv(16)
10/21/1997
% complete
Prothrombin
8/31/1998
% complete
bcrabl - t(9:22)
9/8/1998
% complete
t(15:17)
12/3/1998
% complete
Medium Chain Acyl CoA mutation
3/11/1999
% complete
PTEN Gene Characterization
10/24/2000
% complete
SMAD4 Gene Characterization
6/29/2001
% complete
LKB1 Gene Characterization
3/19/2002
% complete
BMPR1A Gene Characterization
10/29/2002
% complete
ARX Gene Characterization
6/30/2006
% complete
Cmpd Hetero SMN Sequencing
2/13/2007
% complete
FLT3
7/3/2007
% complete
Personnel
Thomas Prior
Jan 1990 - present
% complete
Audrey Papp
Feb 1990 - March 2002
% complete
Pam Snyder
2/26/1990 - present
% complete
Mary Sedra
May 1991 - August 25 2012
% complete
Lorraine Western
feb 1993 - aug 1994
% complete
Marco Guida
aug 1994 - sept 1996
% complete
Bob Shaffer
sept 1996 - aug 2001
% complete
Keith Mullins
apr 1998 - apr 1999
% complete
Scott Bridgeman
aug 2001 - aug 2009
% complete
Jin Fang
feb 2002 - present
% complete
Michele Fuchik
mar 2002 - present
% complete
Joe Carr
aug 2004 - present
% complete
Tatiana Gavrilina
aug 2005 - feb 2012
% complete
Ben Frey
december 2009 - present
% complete
Tiffany Crider
march 2012 - present
% complete
Nikkie Nguyen
december 2012 - present
% complete