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Department of Pathology Diagnostic Services
Molecular Diagnostics
The Molecular Pathology Laboratory of Columbia University Medical Center is a high complexity laboratory which received its CLIA approval and began offering testing since 1999. It is approved by New York State to clinical tests categories "Genetic Testing - Molecular", "Oncology - Molecular Detection", and "Virology - Direct Detction (for HPV testing)". The laboratory is also certified by the College of American Pathologists.
Tests currently offered are:
- Immunoglobulin and T-cell Receptor gene rearrangements by PCR, performed on fresh, frozen or paraffin embedded tissue, blood, or cells.
- Genetic Testing for Factor V Leiden, and Prothrombin (Factor II) 20210G>A mutation.
- Direct sequencing of the entire coding region of the gene for Bone Morphogenetic Protein Receptor-2 (BMPR2) from peripheral blood, in individuals with a personal or family history of primary pulmonary hypertension. The laboratory has developed this test in collaboration with the group of Drs. Morse and Knowles, who first identified the role of mutations of this gene in primary pulmonary hypertension, and is the first laboratory in the nation to offer sequencing of the entire coding region of this gene as a clinical test.
- High Oncogenic Risk Human Papillomavirus testing of cervical specimens, as a reflex test for "Atypical Squamous Cells of Uncertain Significance" ("ASC-US") or for dual "DNA-PAP" screening.
Tests are currently being developed with other researchers in Columbia University to provide testing other genetic conditions, using cutting edge technology. Tests for Molecular Oncology applications are also in development.
Test Information
Factor V Leiden and Prothrombin 20210G>A mutations
- Test Methodology: PCR, followed by restriction fragment length polymorphisms.
- Sample: Whole blood, collected in EDTA tube.
- Sample plus requisition/informed consent must reach laboratory at above address within 48 hours (keep at room temperature). [samples drawn within Medical Center, or those picked up by NYPH CUMC outreach laboratory - send to core laboratory].
- Turnaround Time: 2 weeks; (all positive samples will be retested).
BMPR2 sequencing
This test is performed when there is a personal or family history of primary pulmonary hypertension. If there is no known mutation within a family, the entire coding region will be sequenced. If there is a known mutation, then only the relevant exon will be sequenced.
Access to genetic counseling is required, and care by physicians experienced in management of pulmonary hypertension is strongly recommended. Participation in research protocols may increase access to support groups, etc. For individuals who are participants in a research protocol, researchers may contact the laboratory to first test exon with "known"; this will allow confirmation of the mutation, without the research group having to provide patient with non-CLIA approved test results.
BMPR2 Brochures
- Test Methodology: PCR amplification of 13 exons and adjacent intronic regions in 16 PCR reactions, followed by Big Dye terminator fluorescent capillary sequencing.
- Sample: Whole blood collected in EDTA tubes (2ml).
- Sample plus requisition/informed consent must reach laboratory at above address within 48 hours (keep at room temperature). [samples drawn within Medical Center, or those picked up by NYPH CUMC outreach laboratory - send to core laboratory].
- Turnaround Time: 4 weeks; (all positive samples will be retested).
Immunogloubulin and T-cell Receptor Gene Rearrangement Testing by PCR
Currently the testing is only offered as an adjunct to Pathologists in CUMC, and is not commercially offered by the lab.
High Oncogenic Risk Human Papillomavirus Testing of Cervical Specimens
- Test Methodology: Digene Hybrid Capture.
- Sample: Samples collected with the Digene Cervical Sampler (Digene Cervical Brush and Specimen Transport Medium), and stored at room temperature for up to two weeks, or -20 C for up to three months; or cervical cytology specimens collected in "PreservCyt" solution. There must be at least 4 ml of PreservCyt solution remaining after preparation of cervical smears.
- Requisition: The standard requisition of NYPH and/or CUMC cytology are used. We do not recommend this test without cytology - unless following an ASC-US diagnosis.
Amino Acid Testing
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Lab Telephone Number
212-305-9706
Mailing address
Columbia University
Department of Pathology
630 W. 168th Street
Box #23
New York, NY 10032
Specimen Shipping
Columbia University
Department of Pathology
630 W. 168th Street
VC14-215
New York, NY 10032
The New York
Presbyterian Hospital
at Columbia University
Medical Center
622 West 168th Street
New York, NY 10032
(212) 305-2500
Web Site: www.nyp.org
Physician Referral Service
1-877-NYP-WELL toll free
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