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Cellular Testing
Flow cytometric analysis is a
quantitative
technique
for measuring multiple cell parameters, including
cell surface antigens, intracellular/nuclear
antigens, and DNA content. Analyses can be performed
on peripheral blood, bone marrow, and/or solid
tissue. The technique is most commonly used to
assess immunologic status and oncology. Laboratory
services include lymphocyte immunophenotyping to
monitor the immune status of HIV-infected persons;
cellular phenotypes including cell surface,
cytoplasmic, and nuclear markers that are
cell-lineage specific used in the classification of
leukemias and lymphomas; and DNA content and cell
cycle analysis. Lymphoproliferative/leukemic panels
are important in identifying large granular
lymphocytosis, follicular lymphoma, hairy cell
leukemia, B-cell CLL, mantle cell lymphoma. Reflex
testing to molecular genetics for confirming
inherent molecular endpoints is routine.
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Immunohistochemical analyses provide critical
diagnosis for multiple diseases. Monoclonal
antibody availability and tissue specific diagnostic
panels are available as needed. Disease
specific panels for prognostication are established
for breast cancer, colorectal cancer, and other
neoplasms.
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Sub-cellular Testing
Chromosome analyses for hematological disorders of
bone marrow and/or leukemic blood are performed to
identify specific chromosome rearrangements. These
rearrangements in neoplastic cells are often
correlated to specific types of leukemia, pre-leukemias, or myelodysplasias. This information aids the clinician
in diagnosis, predicting prognosis, and guiding
treatment. Examples of targeted abnormalities
include: t(9;22) [CML, ALL], t(15;17) [AML-M3],
inv(16) [AML-M4], del(5q) [myelodysplasia, secondary
AML].
Cytogenetic studies of bone marrow involve
culturing of fresh specimen. Giemsa-banded
chromosomes are analyzed from 20 or more metaphase
cells. A minimum of two representative karyotypes
are produced. Additional cell counts and banding
techniques are performed when required.
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Cytogenetic studies of peripheral blood also involve
culturing of fresh specimen. Giemsa-banded
chromosomes are analyzed from 20 or more metaphase
cells. A minimum of two representative karyotypes
are produced. Additional cell counts and banding
techniques are performed when required. If mosaicism
is suspect, additional metaphase cells are
evaluated. Chromosome analysis on peripheral blood
specimens may be performed for several indications:
including multiple congenital anomalies in a
patient; couples with a history of spontaneous
miscarriages; individuals with ambiguous genitalia,
infertility, or amenorrhea; patients with a family
history of chromosomal abnormalities; patients with
a suspected chromosomal syndrome; and families with
male predominant mental retardation.
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Sub-chromosomal Testing
 Fluorescence in situ hybridization (FISH) utilizes
fluorescent-labeled DNA probes to defined
chromosomal sequences (e.g., translocation
breakpoint cluster regions, centromeric sequences)
to identify translocations, deletions, and
amplifications of genes as well as changes in
chromosome number. Whereas traditional cytogenetic
analysis requires metaphase (dividing) cell
preparations and is subject to the limitations of
detection by light microscopy, FISH can be applied
to either metaphase or interphase (non-dividing)
cell preparations. FISH analyses allow visualization
of an abnormal chromosomal complement that otherwise
might go undetected (e.g., in a hematologic
population where cells are not dividing or in a
patient who has a cryptic translocation or
microdeletion). FISH can be performed for specific
abnormalities including: translocation breakpoints
in leukemia/lymphoma [t(9;22), t(15;17), inv(16),
t(14;18), etc.]; marker chromosome identification,
mosaicism studies, and prenatal detection of
aneuploidy.
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PCR & RT-PCR
A
variety of molecular-based testing is available to
assist the physician in the diagnosis and monitoring
of patients with genetic disorders. Testing
techniques include: polymerase chain reaction (PCR),
Reverse transcriptase PCR (RT-PCR),Oligonucleotide
ligation assay (OLA), probe-hybridization assays,
sequencing, and fragment length polymorphisms. Such
tests can be used to determine: inherited genetic
abnormalities in hypercoagulable syndromes (i.e.
Factor V(Leiden), prothrombin 20210, MTHFR), cystic
fibrosis mutations, B- and T-cell clonality in
lymphoproliferative syndromes, inherited
abnormalities in iron overload disorders (i.e.
hereditary hemochromatosis), monitoring following
molecularly targeted therapies (i.e. t(9;22 BCR/ABL
post-Gleevec), and engraftment status of bone marrow
transplant recipients.
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In addition to our oncology services, we offer
genetic tests for a variety of inherited genetic
diseases and conditions. Services cover
prenatal, perinatal, and adult diseases.
Clinical geneticists, maternal fetal medicine
specialists, and other genetic educators consult
with patients and providers as necessary.
Your patients
and their families benefit from the total
package of testing through counseling in genetic
diseases.
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Cancer
is a common disease.
However, some people have a greater chance of
developing cancer. This may be due to gene changes
that can be passed on through the family. Inherited
gene changes are responsible for 5-10% of all
cancers.
A careful review of a personal and family history
will help determine whether cancer might be hereditary
in a family. If a personal or family history includes
any of the following risk factors, the patient is at
high risk of a hereditary cancer:
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Cancer before the age of 50 (Breast, Ovarian, Colon,
or Endometrial)
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Families with 2 or more women with breast cancer
diagnosed before the age of 50.
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Women with breast cancer diagnosed 50 years old or
younger, even in the absence of a family history.
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Personal or family history of ovarian cancer (at any
age).
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Personal or family history of male breast cancer (at
any age).
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Personal or family history of bilateral breast
cancer-cancer in both breasts (at any age).
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Personal or family history of both breast & ovarian
cancer in the same individual (at any age).
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Ashkenazi Jewish background with a personal or
family history of breast and/or ovarian cancer.
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Polyposis (multiple polyps in the stomach or
intestines).
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Same
type of cancer in several generations of your
family.
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Concern about developing cancer because of family
history.
Genetic Counseling:
Below you will find videos
and PowerPoint slide shows of answers to
common questions patients have about cancer.
The answers are provided by Feist-Weiller
Cancer Center doctors and are mostly geared
toward the general public although, some are
aimed toward physicians who may want to
refer patients to the Feist-Weiller Cancer
Center.
Please note that you must have Real Player
(Free REAL
Player download) to view these
videos and at least have Microsoft's
PowerPoint viewer to view the slide shows. |
1.
How can Cancer Counseling help my Medical
Practice?
2.
Why should I, as a Patient, consider Genetic
Counseling?
Mary L. Nordberg, Ph.D.
FWCC Director of Molecular Pathology |
Patients enter the program if their personal or
family history includes any of the above risk factors.
Screening & Prevention
Hereditary Cancer Risk Assessment Program
Prevention News
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Overview
