Diagnostic Detectives:
Medical Laboratory Professionals
A Closer Look at
Careers in
Genetic Testing
(Molecular Pathology & Cytogenetics)
When your doctor orders
“lab tests” do you know…..
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Who examines cell chromosomes for
abnormalities in number and structure?
Cytogenetic Technologist
Who analyzes extracted DNA and RNA for
gene rearrangements and translocations?
Molecular Technologist
Medical Laboratory Facts
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A behind-the-scenes, highly skilled team of
pathologists, specialists, technologists, and
assistants work together to provide valuable
data needed to:
– determine the presence or absence of disease
– evaluate the effectiveness of treatment
– maintain health
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Also called Clinical Pathology and Anatomic
Pathology.
Medical Laboratory Facts
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Genetic testing laboratory professionals
generate data to assist physicians in the
detection of cancer, bacterial and viral
infections, and inherited chromosomal
disorders.
80% of all physician decisions are based on
laboratory test results produced by the
laboratory team.
Careers in the Genetics
Testing Laboratory
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Phlebotomist
Laboratory Assistant
Molecular Technologist
Cytogenetics Technologist
Supervisor/Manager
Technical Specialist (PhD)
Pathologist (MD or DO)
NOTE: Educational requirements
for the professions in blue will
be discussed later.
Job Opportunities
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Hospital laboratories
Reference laboratories
State Department of Health
Fertility clinics
Pharmaceutical / Biotech industry
Veterinary laboratories
Forensic laboratories
Daily Routine
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Phlebotomist
– Collect blood specimens
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Laboratory Assistant
– Process specimens and perform pre-analytic functions
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Molecular Technologist
– Extract DNA from tissue and blood specimens
– Perform molecular assays on specimens (PCR and
Southern Blot)
– Maintain instruments & perform quality control
– Review results for accuracy
Daily Routine – continued:
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Cytogenetic Technologist
– Culture cells from patient tissues and blood
– Induce the cells to divide
– Harvest cell cultures and transfer material to slides for
analysis
– Analyze metaphase spreads and photograph to provide
an image to karyotype (chromosomes organized into
homologue pairs)
– Analyze karyotype for chromosomal abnormalities
(e.g., look for additions or missing parts of
chromosome)
Typical Genetic Testing
Laboratories:

Molecular Pathology
– may also be called Molecular Diagnostics
– may be located within the Clinical
Pathology or Anatomic Pathology
Laboratory departments
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Cytogenetics
– typically located in the Anatomic Pathology
Laboratory department
Photo Tour
of
Molecular Pathology
and Cytogenetics
Laboratories
Phlebotomy
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The phlebotomist
collects blood
samples from
patients - young
and old.
Specimen Processing
Laboratory
assistants in
Clinical
Pathology
receive and
prepare blood
and body fluid
specimens for
testing.
Specimen Processing
Laboratory assistants
in Anatomic
Pathology enter
specimen information
into the computer
while the pathologists’
assistant describes
and dissects tissue
for analysis.
Molecular Pathology
In this laboratory, molecular technologists
unravel the DNA or RNA from a patient’s
cells to attach molecular probes that
signal cancer or infections.
Molecular Pathology Lab
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Molecular technologists
extract the DNA from
samples using various
enzymes …..
Molecular Pathology Lab
… and then the
extracted DNA is
precipitated with
ethanol.
Molecular Pathology Lab
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The molecular
technologist …
– loads some of the
extracted DNA onto
a gel,
– electrophoreses the
gel for 20 minutes,
and then
– stains the
separated DNA.
Molecular Pathology Lab
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The gel is then
photographed and
reviewed to check for
sufficient quantity and
quality of extracted DNA.
If it meets these quality
checks, the remaining
DNA will be analyzed
using the technique of:
– PCR (polymerase chain
reaction) or
– Southern Blot
Patient DNA
Molecular Pathology Lab
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Southern blot
utilizes probe
hybridization to
check for gene
rearrangements
found in lymphoma
of solid tissue.
Presence of multiple bands (see arrows)
indicating a gene rearrangement.
Molecular Pathology Lab
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In PCR, the extracted
DNA is then amplified
using various types of
thermal cyclers.
Molecular Pathology Lab
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Computerized
technology and
capillary
electrophoresis
instrumentation
assist in the
evaluation of PCR
products for the
detection of gene
rearrangements.
Molecular Pathology Lab
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Capillary electrophoresis printouts of PCR products
showing polyclonal and monoclonal results.
(Monoclonal findings indicate a gene rearrangement.)
Molecular Pathology Lab
The resulting DNA or RNA
nucleic acid sequences
are then studied for:
– unique sequences of
various bacterial, fungal
or viral organisms
– defective genes found in
inherited disease such
as cystic fibrosis
– mutations in certain
cancer cells
– translocations in cancer
cells from solid tissue
Cytogenetics
In this laboratory, cytogenetic technologists
culture cells from patient samples. The
cell cultures are induced to grow and provide
chromosomes for microscopic analysis.
Cytogenetics Lab
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Types of samples analyzed include;
– Prenatal (amniotic fluid, chorionic villus
sampling)
 purpose of determining chromosome
abnormalities such as Down’s syndrome
– Oncology (bone marrow aspirate, blood from
leukemia patients, tumor tissue)
 purpose of determining cancerous conditions
– Constitutional Studies (products of conception,
peripheral blood)
 purpose of determining inherited
chromosomal disorders or abnormalities
Cytogenetics Lab
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Cytogenetic
technologists culture
cells from patient
tissue and blood
The cells are induced
to divide
The cells cultures are
harvested and
transferred to
microscope slides for
staining and analysis
Cytogenetics Lab
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The stained
chromosomes are
analyzed with a
computerized
microscope to:
– analyze metaphase
spreads
– photograph
metaphase spread
to provide an image
to karyotype
(organize
chromosomes in
homologous pairs)
Cytogenetics Lab
Chromosome homologous pairs are then analyzed
for chromosome abnormalities (e.g., missing or
added parts, extra chromosomes, etc).
Cytogenetics Lab - FISH
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This probe fluoresces chromosome
telomeres a bright green.
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This probe fluoresces the whole
chromosome a bright green.
Cytogenetic technologists
also perform fluorescent in
situ hybridization (FISH).
FISH involves unraveling
the DNA of chromosomes
to attach molecular probes
that contain a fluorescent
signal
FISH allows us to view and
identify chromosomes often
not detectable by
karyotyping alone
More Information…
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Education & Training
Certification
Wages and Job Outlook
Career Advancement
Phlebotomy Technician
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High School diploma or GED
Good communication skills
Formal course in Phlebotomy preferred
– Phlebotomy programs are available through community
colleges, proprietary health occupation schools, or other
academic institutions.
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Clinical training required
Certification recommended (after one year work
experience or formal clinical training in accredited
program)
Work in hospitals, physician offices, home health
care, clinics, insurance companies
Lab Assistant
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High School
Didactic courses in Lab Skills and Computer
Applications also preferred
– These can be taken in a high school
technical/occupational health program or in a community
college medical assisting curriculum.
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On the job clinical training
Work in hospitals, commercial reference
laboratories, research labs
Molecular Technologist
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Bachelor’s degree
Math (algebra) and computer applications
Courses in biochemistry, statistics, physics, genetics,
general microbiology, math and computer applications
Courses in Clinical Hematology, Immunohematology,
Immunology, Medical Microbiology, Clinical Chemistry
Completion of a NAACLS accredited MT/CLS program
or molecular biology education program
National certification: CLSp(MB) or MP(ASCP)
Training, even after certification, is mostly on the job,
hands-on
Cytogenetic Technologist
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Baccalaureate degree
Courses in applied sciences, biology,
chemistry, genetics
Clinical internship in NAACLS accredited
program MT/CLS or HTL program
National certification: CLSp(CG)
Training, even after certification, is mostly on
the job, hands-on
Wages & Job Outlook
PBT
MP
CG
Supervisor
Manager
Annual Wages
Vacancy Rates
$ 18,700-27,000
$ 34,300-47,200
6.6 %
7.0 %
$ 34,982 (mean) *
$ 43,700-56,300
$ 53,200-65,500
3.3 %
1.9 %
Sources: ASCP Preliminary 2003 Wage & Vacancy Survey of
Medical Laboratories, July, 2004, www.ascp.org
*Association of Genetic Technologists (AGT),
www.agt-info.org, (accessed September, 2004)
Career Advancement
Supervisor/Manager
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Senior
technologists with
an interest in
management play
an important role in
coordinating
laboratory
operations,
staffing, and
finances.
PhD
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Technical specialist
(PhD) roles include:
– technical directing
of laboratory
sections
– conducting research
– reviewing and
reporting of patient
results
– consulting with a
patient’s physician
Pathologist
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Pathologist (MD or DO)
roles include:
– directing the
laboratory
– conducting research
– training residents
– reviewing and
reporting of patient
results
– consulting with a
patient’s physician
Accredited Educational
Programs
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The National Accrediting Agency for Clinical
Laboratory Science (NAACLS) has a
comprehensive listing of accredited educational
programs in cytogenetics and diagnostic
molecular science.
National Accrediting Agency for Clinical
Laboratory Sciences
8410 W. Bryn Mawr Ave., Suite 670
Chicago, IL 60631-3415
773-714-8880
www.naacls.org
Certifying Agencies Molecular Technologist
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American Society for Clinical Pathology Board of Registry (ASCP-BOR)
Box 12277
Chicago, IL 60612-0277
www.ascp.org/bor
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National Credentialing Agency for
Laboratory Personnel, Inc. (NCA)
P.O. Box 15945-289
Lenexa, KS 66285
www.nca-info.org
Certifying Agencies Cytogenetics Technologist
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National Credentialing Agency for
Laboratory Personnel, Inc. (NCA)
P.O. Box 15945-289
Lenexa, KS 66285
www.nca-info.org
Summary
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If you...
– are fascinated by science
– like to solve problems
– like challenge and responsibility
– are accurate and reliable
– work well under pressure
– communicate well and
– set high standards for yourself ….
Summary
then…
consider a career in
Genetic Testing!!