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- UPMC section of Lab Medicine-Division of Molecular Diagnostics
- HIGHLIGHTS
- Diagnoses and classifies neoplastic diseases with new, molecular-based
markers to give additional insight into both prognosis and therapeutic
monitoring of cancer patients for residual disease
- Aids in the diagnosis of acquired infectious diseases, with emphasis on DNA
and RNA viruses associated with solid organ transplantation.
- Offers to local and national clients comprehensive anlaysis encompassing a
range of simple and complex inherited disorders to include pancreatic disease,
hereditary paraganglioma / pheochromocytoma, and mitochondrial disorders.
- Investigates the molecular basis of cell survival and programmed cell death and oxidative mechanisms of disease, viral latency, hereditary cancer and genetic disorders.
- Diagnoses and classifies neoplastic diseases with new, molecular-based
markers to give additional insight into both prognosis and therapeutic
monitoring of cancer patients for residual disease
Molecular Diagnostics (Division of Molecular Diagnostics Web Site) This Division integrates molecular biology into the practice of pathology, translating complex molecular biology techniques into simplified technical protocols suitable for use in the hospital diagnostic laboratory. Please visit our web site for further, in depth, information on services provided by the Molecular Diagnostics Laboratory.
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The Division of Molecular Diagnostics is part of the Department of Pathology at the University of Pittsburgh Medical Center (UPMC). The Division is located in the midst of a large hospital complex and performs testing on a variety of sample types over a wide range of diseases. The Division offers about 60 different tests and processes over 25,000 samples each year in Infectious Diseases, Genetics, and Cancer Diagnostics.
Fellowship training opportunities are available for physicians who have completed an accredited residency in Anatomic and/or Clinical Pathology or an accredited residency or fellowship in Medical Genetics.
Division Faculty
- Jeffrey A. Kant, MD, PhD, Division Director
- Marie C. DeFrances, MD, PhD Assistant Director
- Zoltan Oltvai, MD
- Tim D. Oury MD, PhD
Lists of the Tests performed in this division
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Adenovirus, qualitative realtime
PCR Bacterial strain identification (rRNA gene sequence
analysis) | |
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BCL2/Immunoglobulin heavy
chain translocation, t(14;18) ?Major breakpoint cluster region (Mbr),
PCR | |
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BCL2/Immunoglobulin heavy chain translocation, t(14;18)
?Major breakpoint cluster region (Mbr), Southern
blot | |
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BCL2/Immunoglobulin heavy
chain translocation, t(14;18) ?minor cluster region (mcr),
PCR | |
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BCL2/Immunoglobulin heavy chain translocation, t(14;18)
?minor cluster region (mcr), Southern blot | |
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BCL6
translocation, t(3;others), Southern blot | |
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BCR-ABL
translocation (M-BCR: major breakpoint), t(9;22) (CML, some cases of
ALL), quantitative real-time RT-PCR | |
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BCR-ABL
translocation (m-BCR: minor breakpoint), t(9;22) (some cases of ALL),
quantitative real-time RT-PCR | |
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BK (Polyoma) virus,
Quantitative PCR | |
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BRCA
1 and 2 (Ashkenazi Jewish Screening Panel) for hereditary breast
cancer | |
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Breast Cancer, hereditary (BRCA1/2 Ashkenazi Jewish
Screening Panel) | |
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CLL
sequencing analysis for mutated/non-mutated status of immunoglobulin heavy chain
gene variable regions CMV
(Cytomegalovirus), PCR | |
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c-MYC translocations, t(8;14) and t(8;22) and
t(2;8), Southern blot | |
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Consultation | |
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Cystic Fibrosis (ACMG 23
mutation panel) with polyT analysis | |
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Cytomegalovirus (CMV), qualitative realtime
PCR | |
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DNA
Isolation and Storage | |
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EBV
(Epstein-Barr Virus) Clonality Studies, Southern
blot | |
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EBV
(Epstein-Barr Virus), qualitative realtime PCR | |
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Epstein-Barr Virus (EBV) Clonality Studies, Southern
blot | |
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Epstein-Barr Virus (EBV), qualitative realtime
PCR | |
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Factor V Leiden
(Invader) | |
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Fragile X Syndrome | |
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HBV
(Hepatitis B Virus), PCR , quantitative in plasma, qualitative for liver
HCV
(Hepatitis C Virus), genotype (DNA sequence analysis) HCV
(Hepatitis C Virus), genotype (Invader) | |
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HCV
(Hepatitis C Virus), RT-PCR, quantitative in plasma, qualitative for
liver | |
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Hepatitis B (HBV), PCR , quantitative in plasma,
qualitative for liver Hepatitis C virus (HCV) genotype, DNA sequence
analysis Hepatitis C virus (HCV), genotype
(Invader) | |
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Hepatitis C Virus (HCV),
RT-PCR, Quantitative | |
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Hereditary Pancreatic carcinoma (PALLD gene
sequencing) | |
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Hereditary
Paraganglioma/pheochromocytoma (SDHD / SDHB / SDHC), full gene sequence
analysis | |
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Herpes Simplex Virus (Types 1,2), qualitative realtime
PCR | |
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HIV-1 (Human Immunodeficiency Virus, Type 1),
Quantitative RT-PCR (Viral Load) ,
ultrasensitive | |
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HSV-1 (Herpes Simplex Virus, Type 1), qualitative
realtime PCR | |
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HSV-2 (Herpes Simplex Virus, Type 2), qualitative
realtime PCR | |
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HTLV-I (Human T-cell Leukemia Virus, Type I), qualitative
realtime PCR | |
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HTLV-II (Human T-cell Leukemia Virus, Type II),
qualitative realtime PCR | |
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Human Immunodeficiency Virus, Type 1 (HIV-1),
Quantitative RT-PCR (Viral Load), ultrasensitive | |
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Human T-cell Leukemia Virus, Type 1 (HTLV-1), qualitative
realtime PCR | |
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Human T-cell Leukemia Virus, Type II (HTLV-II),
qualitative realtime PCR | |
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Immunoglobulin heavy chain gene rearrangement, Southern
Blot Isovaleric Acidemia (Isovaleryl-CoA-Dehydrogenase gene
sequencing) JAK2
V617F mutation testing (PCR), myeloproliferative
disorders | |
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JC
(Polyoma) virus, qualitative real-time PCR | |
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Kennedy Disease (Spinal &
Bulbar Muscular Atrophy), X-linked Lymphedema distichiasis syndrome (FOXC2 gene
sequencing) | |
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Malignant hyperthermia (RYR1 gene sequenced analysis,
partial) MCAD
deficiency (medium chain Acyl-CoA-Dehydrogenase), exon 11 (>90%
mutations) MELAS (Mitochondrial
Encephalopathy, Lactic Acidosis and Stroke
Syndrome) | |
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MEN2A/B
(c-RET oncogene) for Multiple Endocrine Neoplasia, Type 2, exons
10,11,13,14,15,16) | |
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Methylenetetrahydrofolate reductase
(MTHFR), 677C>T Thermolabile polymorphism
(Invader) | |
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Molecular Diagnostics
consultation | |
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MTHFR, 677C>T Thermolabile
Polymorphism (Invader) | |
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Multiple
Endocrine Neoplasia, Type 2 (MEN 2A/2B, c-RET oncogene) (exons
10,11,13,14,15,16) | |
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Pancreatic secretory trypsin inhibitor (SPINK1,
a.k.a. Serine protease inhibitor, kazal type 1) ,
PCR | |
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PML;RAR-alpha translocation, t(15;17), RT-PCR, qualitative,
nested PML;RAR-alpha
translocation, t(15;17), RT-PCR, quantitative | |
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Polyoma (BK or JC) Virus, auantitative or qualitative
real-time PCR | |
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RNA
Isolation and Storage RYR1
gene sequence analysis, partial (Malignant
hyperthermia) | |
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SDHB
(Hereditary Paraganglioma/pheochromocytoma), full gene sequencing
| |
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SDHC (Hereditary Paraganglioma/pheochromocytoma),
full gene sequencing | |
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SDHD (Hereditary Paraganglioma/pheochromocytoma),
full gene sequencing | |
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SMA (Spinal Muscular Atrophy),
autosomal recessive (types I, II, and III) , PCR (diagnostic, not
carrier) | |
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Spinal & Bulbar Muscular
Atrophy, X-linked (Kennedy Disease) | |
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Spinal Muscular Atrophy,
autosomal recessive (types I, II, and III), PCR (diagnostic, not
carrier) | |
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Storage, DNA and/or RNA | |
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t(11q23;others), MLL translocation, Southern
blot | |
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t(14;18) (BCL2;IGH)
?Major breakpoint cluster region (Mbr), PCR | |
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t(14;18) (BCL2;IGH) ?Major breakpoint
cluster region (Mbr), Southern blot | |
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t(14;18) (BCL2;IGH) ?minor cluster region
(mcr), Southern blot | |
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t(15;17), PML;RAR-alpha, RT-PCR, qualitative,
nested t(15;17), PML;RAR-alpha, RT-PCR,
quantitative | |
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t(3;others), BCL6;others, Southern
blot | |
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t(8;others), c-MYC;Ig, Southern
blot | |
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t(9;22), BCR-ABL translocation
(M-BCR: Major breakpoint)(CML, some cases of ALL), quantitative real-time
RT-PCR | |
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t(9;22), BCR-ABL translocation
(m-BCR: minor breakpoint) (some cases of ALL), quantitative real-time
RT-PCR | |
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T-cell receptor beta chain gene rearrangement, Southern
Blot | |
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Varicella Zoster Virus (VZV), qualitative realtime
PCR | |
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VZV
(Varicella Zoster Virus), qualitative realtime
PCR |
