Molecular Diagnostics

The following is a table of all tests available from the Division of Molecular Diagnostics. Please contact the individual laboratory or contact person for more information

Microbiology, Virology, and Infectious Diseases

Core PCR Laboratory

The following tests are available from the Core PCR Laboratory:

Lyme disease

Molecular Analysis: PCR-based amplification followed by detection using a liquid hybridization/gel retardation format
Clinical Significance: Assay used for individuals with tick bites or clinical symptoms consistent with Lyme disease
Specimen Types: Blood, tissue, CSF, synovial fluid
Contact: (412) 648-8519

Cytomegalovirus (CMV)

Molecular Analysis: PCR-based amplification followed by detection using a liquid hybridization/gel retardation format
Clinical Significance: Detection of CMV infection prior to seroconversion and following CMV reactivation
Specimen Types: Blood, tissue, CSF
Contact: (412) 648-8519

Hepatitis C virus (HCV)

Molecular Analysis: RT-PCR-based amplification followed by detection using a liquid hybridization/gel retardation format
Clinical Significance: Determination of an active infection and effectiveness of antiviral drug therapy
Specimen Types: Blood, tissue
Contact: (412) 648-8519

Hepatitis B virus (HBV)

Molecular Analysis: PCR-based amplification followed by detection using a liquid hybridization/gel retardation format
Clinical Significance: Determination of an active infection and effectiveness of antiviral drug therapy
Specimen Types: Blood, tissue
Contact: (412) 648-8519

Human T-cell lymphoma/leukemia virus-I (HTLV-I)

Molecular Analysis: PCR-based amplification followed by detection using a liquid hybridization/gel retardation format
Clinical Significance: Detection of circulating virus in the bloodstream, discrimination between HTLV-I and HTLV-II infection
Specimen Types: Blood, tissue, CSF
Contact: (412) 648-8519

Human T-cell lymphoma/leukemia virus-II (HTLV-II)

Molecular Analysis: PCR-based amplification followed by detection using a liquid hybridization/gel retardation format
Clinical Significance: Detection of circulating virus in the bloodstream, discrimination between HTLV-I and HTLV-II infection
Specimen Types: Blood, tissue, CSF
Contact: (412) 648-8519

Human immunodeficiency virus (HIV-I)

Molecular Analysis: PCR-based amplification followed by detection using a liquid hybridization/gel retardation format
Clinical Significance: Assay used for individuals with exposure history or for neonates born to HIV-seropositive mothers
Specimen Types: Blood, tissue, CSF
Contact: (412) 648-8519

Quantitative hepatitis C virus (HCV)

Molecular Analysis: RT-PCR-based amplification followed by detection using a liquid hybridization/gel retardation format
Clinical Significance: Quantitative tests of viral load for optimized timing of hepatitis virus treatment or for assessing efficacy of antiviral treatments
Specimen Types: Blood, tissue
Contact: (412) 648-8519

Quantitative cytomegalovirus (CMV)

Molecular Analysis: PCR-based amplification followed by detection using a liquid hybridization/gel retardation format
Clinical Significance:
Specimen Types:
Contact: (412) 648-8519

Influenza virus

Molecular Analysis: RT-PCR-based amplification followed by detection using a liquid hybridization/gel retardation format
Clinical Significance:
Specimen Types:
Contact: (412) 648-8519

Parainfluenza virus

Molecular Analysis: RT-PCR-based amplification followed by detection using a liquid hybridization/gel retardation format
Clinical Significance:
Specimen Types:
Contact: (412) 648-8519

Adenoviruses (types 2 + 5)

Molecular Analysis: PCR-based amplification followed by detection using a liquid hybridization/gel retardation format
Clinical Significance:
Specimen Types:
Contact: (412) 648-8519

HSV

Molecular Analysis: PCR-based amplification followed by detection using a liquid hybridization/gel retardation format
Clinical Significance:
Specimen Types:
Contact: (412) 648-8519

VZV

Molecular Analysis: PCR-based amplification followed by detection using a liquid hybridization/gel retardation format
Clinical Significance:
Specimen Types:
Contact: (412) 648-8519

HPV generic

Molecular Analysis: PCR-based amplification followed by detection using a liquid hybridization/gel retardation format
Clinical Significance:
Specimen Types:
Contact: (412) 648-8519

HPV 6,11,16,18,31,33

Molecular Analysis: PCR-based amplification followed by detection using a liquid hybridization/gel retardation format
Clinical Significance:
Specimen Types:
Contact: (412) 648-8519

Moraxella catarrhalis

Molecular Analysis:
Clinical Significance:
Specimen Types:
Contact: (412) 648-8519

Streptococcus pneumonia

Molecular Analysis:
Clinical Significance:
Specimen Types:
Contact: (412) 648-8519

Haemophilis influenza

Molecular Analysis:
Clinical Significance:
Specimen Types:
Contact: (412) 648-8519

Bordetella pertussis

Molecular Analysis:
Clinical Significance:
Specimen Types:
Contact: (412) 648-8519

Legionella spp.

Molecular Analysis: DNA probe of Legionella ribosomal RNA
Clinical Significance: Diagnosis of pulmonary Legionnaires' disease
Specimen Types: Respiratory specimens
Contact: (412) 648-8519

For a list of tests in development within the Core PCR Laboratory, please click here.

Magee-Womens Hospital Molecular Diagnostics Laboratory

The following tests are available from the Magee-Womens Hospital Molecular Diagnostics Laboratory:

Chlamydia

Molecular Analysis: PCR of cryptic plasmid of Chlamydia trachomatis
Clinical Significance: Confirms infection by Chlamydia trachomatis
Specimen Types: Cervical and urethral swabs, urine specimens
Contact: Jeanne Jordan, PhD -- (412) 641-4104

Human parvovirus B19

Molecular Analysis: PCR amplification, in situ hybridization, immunohistochemistry analysis
Clinical Significance: Diagnosis of B19-associated aplastic anemia and nonimmune hydrops fetalis
Specimen Types: Blood, formalin-fixed paraffin-embedded tissues, fresh tissues and fluids, bone marrow aspirates
Contact: Jeanne Jordan, PhD -- (412) 641-4104

Candida albicans

Molecular Analysis: PCR amplification
Clinical Significance: Diagnosis of candidemia
Specimen Types: Blood, fresh or frozen tissues, needle biopsy, formalin-fixed paraffin-embedded tissues
Contact: Jeanne Jordan, PhD -- (412) 641-4104

Candida glabrata

Molecular Analysis: PCR amplification
Clinical Significance: Diagnosis of candidemia
Specimen Types: Blood, fresh or frozen tissues, needle biopsy, formalin-fixed paraffin-embedded tissues
Contact: Jeanne Jordan, PhD -- (412) 641-4104

Candida parapsilosis

Molecular Analysis: PCR amplification
Clinical Significance: Diagnosis of candidemia
Specimen Types: Blood, fresh or frozen tissues, needle biopsy, formalin-fixed paraffin-embedded tissues
Contact: Jeanne Jordan, PhD -- (412) 641-4104

Candida tropicalis

Molecular Analysis: PCR amplification
Clinical Significance: Diagnosis of candidemia
Specimen Types: Blood, fresh or frozen tissues, needle biopsy, formalin-fixed paraffin-embedded tissues
Contact: Jeanne Jordan, PhD -- (412) 641-4104

Group B streptococcus

Molecular Analysis: PCR amplification
Clinical Significance:
Specimen Types:
Contact: Jeanne Jordan, PhD -- (412) 641-4104

For a list of tests in development within the Magee-Womens Hospital Molecular Diagnostics Laboratory, please click here.

Anatomic and Transplant Pathology

Molecular Tissue Typing Laboratory

The following tests are available from the Molecular Tissue Typing Laboratory:

HLA typing DRB - low resolution

Molecular Analysis: PCR + SSOP (sequence-specific oligonucleotide probes)
Clinical Significance: Determination of tissue compatibility, disease associations
Specimen Types: Blood
Contact: Gayle Rosner, PhD -- (412) 647-6144

HLA typing DRB - high resolution (subtyping)

Molecular Analysis: PCR + SSOP (sequence-specific oligonucleotide probes)
Clinical Significance: Determination of tissue compatibility, disease associations
Specimen Types: Blood
Contact: Gayle Rosner, PhD -- (412) 647-6144

HLA typing DQB

Molecular Analysis: PCR + SSOP (sequence-specific oligonucleotide probe)
Clinical Significance: Determination of tissue compatibility, disease associations
Specimen Types: Blood
Contact: Gayle Rosner, PhD -- (412) 647-6144

Bone marrow engraftment studies (VNTR)

Molecular Analysis: PCR to determine VNTR length polymorphism
Clinical Significance: Determination of bone marrow engraftment, identity and relatedness, zygosity
Specimen Types: Blood
Contact: Gayle Rosner, PhD -- (412) 647-6144

HLA DR typing (Rapid test)

Molecular Analysis: PCR + SSOP (sequence-specific oligonucleotide probe)
Clinical Significance: Determination of tissue compatibility, disease associations
Specimen Types: Blood
Contact: Gayle Rosner, PhD -- (412) 647-6144

For a list of tests in development within the Molecular Tissue Typing Laboratory, please click here.

In Situ Hybridization Laboratory

The following tests are available from the In Situ Hybridization Laboratory:

HPV (Panel probe)

Molecular Analysis: In situ hybridization
Clinical Significance: Confirmation of viral infection
Specimen Types: Formalin-fixed paraffin-embedded histologic section, fresh frozen tissues
Contact: Samuel Yousem, MD -- (412) 647-6193

HPV 6 and 11 subtype probe

Molecular Analysis: In situ hybridization
Clinical Significance:Confirmation of viral infection
Specimen Types: Formalin-fixed paraffin-embedded histologic section, fresh frozen tissues
Contact: Samuel Yousem, MD -- (412) 647-6193

HPV 16 and 18 subtype probe

Molecular Analysis: In situ hybridization
Clinical Significance: Confirmation of viral infection
Specimen Types: Formalin-fixed paraffin-embedded histologic section, fresh frozen tissues
Contact:Samuel Yousem, MD -- (412) 647-6193

HPV 31, 32, and 33 subtype probe

Molecular Analysis: In situ hybridization
Clinical Significance: Confirmation of viral infection
Specimen Types: Formalin-fixed paraffin-embedded histologic section, fresh frozen tissues
Contact:Samuel Yousem, MD -- (412) 647-6193

Adenovirus probe

Molecular Analysis: In situ hybridizaion
Clinical Significance: Confirmation of viral infection
Specimen Types: Formalin-fixed paraffin-embedded histologic section, fresh frozen tissues
Contact:Samuel Yousem, MD -- (412) 647-6193

CMV probe

Molecular Analysis: In situ hybridization
Clinical Significance: Confirmation of viral infection
Specimen Types: Formalin-fixed paraffin-embedded histologic section, fresh frozen tissues
Contact:Samuel Yousem, MD -- (412) 647-6193

EBV probe

Molecular Analysis: In situ hybridization
Clinical Significance: Confirmation of viral infection
Specimen Types: Formalin-fixed paraffin-embedded histologic section, fresh frozen tissues
Contact: Samuel Yousem, MD -- (412) 647-6193

HSV probe

Molecular Analysis: In situ hybridization
Clinical Significance: Confirmation of viral infection
Specimen Types: Formalin-fixed paraffin-embedded histologic section, fresh frozen tissues
Contact: Samuel Yousem, MD -- (412) 647-6193

mRNA/Kappa chain restriction

Molecular Analysis: In situ hybridization
Clinical Significance: Marker for lymphoid clonality
Specimen Types: Formalin-fixed paraffin-embedded histologic section, fresh frozen tissue
Contact:Samuel Yousem, MD -- (412) 647-6193

mRNA/Lambda chain restriction

Molecular Analysis: In situ hybridization
Clinical Significance: Marker for lymphoid clonality
Specimen Types: Formalin-fixed paraffin-embedded histologic section, fresh frozen tissues
Contact: Samuel Yousem, MD -- (412) 647-6193

Y chromosome specific probe

Molecular Analysis: In situ hybridization
Clinical Significance: Sex determination or graft vs. host disease (GVHD)
Specimen Types: Formalin-fixed paraffin-embedded histologic section, fresh frozen tissues
Contact: Samuel Yousem, MD -- (412) 647-6193

Molecular Oncology

Molecular Oncology Laboratory

The following tests are available from the Molecular Oncology Laboratory:

Immunoglobin heavy chain gene rearrangement

Molecular Analysis: Southern blot
Clinical Significance: Unique genetic marker for lymphoid neoplasms that can be used to monitor therapy and disease
Specimen Types: Fresh or frozen tissue, blood
Contact: Joseph Locker, MD, PhD and Jeffrey A. Kant, MD, PhD -- (412) 648-8519

Immunoglobin kappa light chain gene rearrangement

Molecular Analysis: Southern blot
Clinical Significance: Unique genetic marker for lymphoid neoplasms that can be used to monitor therapy and disease
Specimen Types: Fresh or frozen tissue, blood
Contact: Joseph Locker, MD, PhD and Jeffrey A. Kant, MD, PhD -- (412) 648-8519

Immunoglobin lambda light chain gene rearrangement

Molecular Analysis: Southern blot
Clinical Significance: Unique genetic marker for lymphoid neoplasms that can be used to monitor therapy and disease
Specimen Types: fresh or frozen tissue, blood
Contact: Joseph Locker, MD, PhD and Jeffrey A. Kant, MD, PhD -- (412) 648-8519

T-cell receptor beta-chain gene rearrangement

Molecular Analysis: Southern blot
Clinical Significance: Unique genetic marker for lymphoid neoplasms that can be used to monitor therapy and disease
Specimen Types: Fresh or frozen tissue, blood
Contact: Joseph Locker, MD, PhD and Jeffrey A. Kant, MD, PhD -- (412) 648-8519

bcl-2 gene rearrangement

Molecular Analysis: Southern blot/PCR and agarose gel electrophoresis (AGE)
Clinical Significance: Unique genetic marker for lymphoid neoplasms that can be used to monitor therapy and disease
Specimen Types: Fresh or frozen tissue, blood
Contact: Joseph Locker, MD, PhD and Jeffrey A. Kant, MD, PhD -- (412) 648-8519

c-myc gene rearrangement

Molecular Analysis:
Clinical Significance: Unique genetic marker for lymphoid neoplasms that can be used to monitor therapy and disease
Specimen Types:
Contact: Joseph Locker, MD, PhD and Jeffrey A. Kant, MD, PhD -- (412) 648-8519

neu gene amplification

Molecular Analysis: Southern or dot blots
Clinical Significance: Unique genetic marker for lymphoid neoplasms that can be used to monitor therapy and disease
Specimen Types: Fresh or frozen tissue
Contact: Joseph Locker, MD, PhD and Jeffrey A. Kant, MD, PhD -- (412) 648-8519

c-myc gene amplification

Molecular Analysis: Southern or dot blots
Clinical Significance: Unique genetic marker for lymphoid neoplasms that can be used to monitor therapy anddisease
Specimen Types: Fresh or frozen tissue
Contact: Joseph Locker, MD, PhD and Jeffrey A. Kant, MD, PhD -- (412) 648-8519

int-2 gene amplification

Molecular Analysis: Southern or dot blots
Clinical Significance: Unique genetic marker for lymphoid neoplasms that can be used to monitor therapy and disease
Specimen Types: Fresh or frozen tissue
Contact: Joseph Locker, MD, PhD and Jeffrey A. Kant, MD, PhD -- (412) 648-8519

N-myc gene amplification

Molecular Analysis: Southern or dot blots
Clinical Significance: Unique genetic marker for lymphoid neoplasms that can be used to monitor therapy and disease
Specimen Types: Fresh or frozen tissue
Contact: Joseph Locker, MD, PhD and Jeffrey A. Kant, MD, PhD -- (412) 648-8519

EGFR gene amplification

Molecular Analysis: Southern or dot blots
Clinical Significance: Unique genetic marker for lymphoid neoplasms that can be used to monitor therapy and disease
Specimen Types: Fresh or frozen tissue
Contact: Joseph Locker, MD, PhD and Jeffrey A. Kant, MD, PhD -- (412) 648-8519

t(9;22), bcr-abl translocation

Molecular Analysis: RT-PCR and agarose gel electrophoresis (AGE)
Clinical Significance: Unique genetic marker for lymphoid neoplasms that can be used to monitor therapy and disease
Specimen Types: Blood, bone marrow
Contact: Joseph Locker, MD, PhD and Jeffrey A. Kant, MD, PhD -- (412) 648-8519

t(9;22), bcr-abl (ALL variant) translocation

Molecular Analysis: RT-PCR and agarose gel electrophoresis (AGE)
Clinical Significance: Unique genetic marker for lymphoid neoplasms that can be used to monitor therapy and disease
Specimen Types: Blood, bone marrow
Contact: Joseph Locker, MD, PhD and Jeffrey A. Kant, MD, PhD -- (412) 648-8519

t(15;17), pml-rar translocation

Molecular Analysis: Southern blot/RT-PCR and agarose gel electrophoresis (AGE)
Clinical Significance: Unique genetic marker for lymphoid neoplasms that can be used to monitor therapy and disease
Specimen Types: Blood, bone marrow
Contact: Joseph Locker, MD, PhD and Jeffrey A. Kant, MD, PhD -- (412) 648-8519

t(1;19), pbxl-E2A translocation

Molecular Analysis: RT-PCR and agarose gel electrophoresis (AGE)
Clinical Significance: Unique genetic marker for lymphoid neoplasms that can be used to monitor therapy and disease
Specimen Types: Blood, bone marrow
Contact: Joseph Locker, MD, PhD and Jeffrey A. Kant, MD, PhD -- (412) 648-8519

Epstein-Barr virus terminal repeat DNA analysis

Molecular Analysis: Southern blot
Clinical Significance: Unique genetic marker for lymphoid neoplasms that can be used to monitor therapy and disease
Specimen Types: Blood, bone marrow
Contact: Joseph Locker, MD, PhD and Jeffrey A. Kant, MD, PhD -- (412) 648-8519

rar-alpha gene rearrangement

Molecular Analysis:
Clinical Significance:
Specimen Types:
Contact: Joseph Locker, MD, PhD and Jeffrey A. Kant, MD, PhD -- (412) 648-8519

mll-1 gene rearrangement

Molecular Analysis: Southern blot/RT-PCR and agarose gel electrophoresis (AGE)
Clinical Significance: Common rearrangement in lymphoid and myeloid leukemias (particularly those with a monocytic component)
Specimen Types: Blood, bone marrow
Contact: Joseph Locker, MD, PhD and Jeffrey A. Kant, MD, PhD -- (412) 648-8519

For a list of tests in development within the Molecular Oncology Laboratory, please click here.

Molecular Genetics

Molecular Genetics Laboratory

Cystic Fibrosis

Molecular Analysis: Multiplex PCR with dot blot hybridization, 5 or 14 mutations
Clinical Significance: Diagnosis of disease/detection of carriers
Specimen Types: Blood, amniotic fluid, cultured cells, cheek brush samples
Contact: Jeffrey A. Kant, MD, PhD -- (412) 648-8519

Gaucher Disease

Molecular Analysis: Multiplex PCR for 4 mutations with dot blot hybridization
Clinical Significance: Diagnosis of disease/detection of carriers
Specimen Types: Blood, amniotic fluid, cultured cells, cheek brush samples
Contact: Jeffrey A. Kant, MD, PhD -- (412) 648-8519

Medium chain acyl dehydrogenase deficiency

Molecular Analysis: PCR analysis
Clinical Significance:
Specimen Types:
Contact: Eric Hoffman, PhD -- (412) 648-9549

Quantitative X-inactivation

Molecular Analysis: PCR analysis
Clinical Significance:
Specimen Types:
Contact: Eric Hoffman, PhD -- (412) 648-9549

Myotonic dystrophy

Molecular Analysis: PCR and Southern blot analysis of CTG repeat
Clinical Significance: Diagnosis of disease/prenatal diagnosis
Specimen Types: Blood, amniotic fluid, chorionic villus
Contact: Eric Hoffman, PhD -- (412) 648-9549

Sodium channelopathies

Molecular Analysis: PCR analysis, LCR ASOH
Clinical Significance:
Specimen Types:
Contact: Eric Hoffman, PhD -- (412) 648-9549

Chloride channelopathies

Molecular Analysis: PCR analysis
Clinical Significance:
Specimen Types:
Contact: Eric Hoffman, PhD -- (412) 648-9549

Duchenne/Becker muscular dystrophy

Molecular Analysis: PCR deletion and linkage analysis; muscle biopsy for dystrophin
Clinical Significance: Diagnosis of disease/detection of female carriers/prenatal diagnosis
Specimen Types: Blood, amniotic fluid, chorionic villus, frozen muscle biopsy
Contact Person: Jeffrey A. Kant MD, PhD -- (412) 648-8519

The test(s) is (are) performed under an agreement with Roche Molecular Systems, Inc.