1. Diagnostic Detectives: Medical Laboratory Professionals
A Closer Look at
Careers in
Genetic Testing
(Molecular Pathology & Cytogenetics)

2. When your doctor orders “lab tests” do you know…..
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

3. Medical Laboratory Facts
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
Also called Clinical Pathology and Anatomic Pathology.

4. Medical Laboratory Facts
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.

5. Careers in the Genetics Testing Laboratory
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.

6. Job Opportunities Hospital laboratories Reference laboratories
State Department of Health
Fertility clinics
Pharmaceutical / Biotech industry
Veterinary laboratories
Forensic laboratories

7. Daily Routine Phlebotomist Collect blood specimens
Laboratory Assistant
Process specimens and perform pre-analytic functions
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

8. Daily Routine – continued:
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)

9. Typical Genetic Testing Laboratories:
Molecular Pathology
may also be called Molecular Diagnostics
may be located within the Clinical Pathology or Anatomic Pathology Laboratory departments
Cytogenetics
typically located in the Anatomic Pathology Laboratory department

10. Photo Tour of Molecular Pathology and Cytogenetics Laboratories

11. Phlebotomy
The phlebotomist collects blood samples from patients - young and old.

12. Specimen Processing Laboratory assistants in Clinical Pathology
receive and
prepare blood
and body fluid
specimens for
testing.

13. Specimen Processing Laboratory assistants in Anatomic Pathology enter
specimen information
into the computer
while the pathologists’
assistant describes
and dissects tissue
for analysis.

14. 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.

15. Molecular Pathology Lab
Molecular technologists extract the DNA from samples using various enzymes …..

16. Molecular Pathology Lab
… and then the extracted DNA is precipitated with ethanol.

17. Molecular Pathology Lab
The molecular technologist …
loads some of the extracted DNA onto a gel,
electrophoreses the gel for 20 minutes, and then
stains the separated DNA.

18. Molecular Pathology Lab
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

19. Molecular Pathology Lab
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.

20. Molecular Pathology Lab
In PCR, the extracted DNA is then amplified using various types of thermal cyclers.

21. Molecular Pathology Lab
Computerized technology and capillary electrophoresis instrumentation assist in the evaluation of PCR products for the detection of gene rearrangements.

22. Molecular Pathology Lab
Capillary electrophoresis printouts of PCR products showing polyclonal and monoclonal results. (Monoclonal findings indicate a gene rearrangement.)

23. 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

24. Cytogenetics In this laboratory, cytogenetic technologists
culture cells from patient samples. The
cell cultures are induced to grow and provide
chromosomes for microscopic analysis.

25. Cytogenetics Lab 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

26. Cytogenetics Lab
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

27. Cytogenetics Lab
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)

28. Cytogenetics Lab
Chromosome homologous pairs are then analyzed for chromosome abnormalities (e.g., missing or added parts, extra chromosomes, etc).

29. Cytogenetics Lab - FISH
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
This probe fluoresces chromosome telomeres a bright green.
This probe fluoresces the whole chromosome a bright green.

30. More Information… Education & Training Certification
Wages and Job Outlook
Career Advancement

31. Phlebotomy Technician
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.
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

32. Lab Assistant 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.
On the job clinical training
Work in hospitals, commercial reference laboratories, research labs

33. Molecular Technologist
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

34. Cytogenetic Technologist
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

35. Wages & Job Outlook
Sources: ASCP Preliminary 2003 Wage & Vacancy Survey of Medical Laboratories, July, 2004,
*Association of Genetic Technologists (AGT), (accessed September, 2004)

36. Career Advancement

37. Supervisor/Manager
Senior technologists with an interest in management play an important role in coordinating laboratory operations, staffing, and finances.

38. PhD Technical specialist (PhD) roles include:
technical directing of laboratory sections
conducting research
reviewing and reporting of patient results
consulting with a patient’s physician

39. Pathologist 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

40. Accredited Educational Programs
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

41. Certifying Agencies - Molecular Technologist
American Society for Clinical Pathology - Board of Registry (ASCP-BOR)
Box 12277
Chicago, IL
National Credentialing Agency for Laboratory Personnel, Inc. (NCA)
P.O. Box
Lenexa, KS

42. Certifying Agencies - Cytogenetics Technologist
National Credentialing Agency for Laboratory Personnel, Inc. (NCA)
P.O. Box
Lenexa, KS

43. Summary 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 ….

44. Summary
then…
consider a career in
Genetic Testing!!