Cytogenetics Final Course Requirement Guidelines

I. Course requirement objectives

The final course requirement shall target the following course learning objectives stipulated in
the course syllabus:
A. Relate chromosomal and cellular processes to aberrant conditions and their clinical
manifestations;
B. Explain the scientific bases of cytogenetic diagnostic procedures and their applications
in medical laboratory science;
C. Describe laboratory techniques accurately in the cytogenetics laboratory;
D. Apply ethical, legal, and socio-cultural considerations in cytogenetic and molecular
diagnostics; and,
E. Communicate effectively in writing using English.

II. Course requirement description

1. Assume that you are part of a team tasked to setup a cytogenetics/molecular diagnostics
laboratory that aims to offer services for the detection of human genetic diseases. Write
a laboratory procedure manual for a chosen human genetic disease complete with the
following parts:
I. Title page
II. Specific features of [your chosen genetic disease]
III. Standard operating procedure
IV. References
2. You are to encode your output in any available word processor with the following
formatting: font Arial; font size 11 (unless otherwise indicated); headings in bold and
aligned left; body justified; 1.5 spacing throughout; and, 1-inch margin on all sides.
3. The title page contents shall be:
a. Laboratory procedure manual for [your chosen genetic disease]; font size 16,
centered, all caps
b. Your name; font size 14, centered, all caps
c. Your class schedule (i,e., M 1:30-3:30); centered
d. The rubric for scoring (see below); copy as is
4. For the specific features of the chosen genetic disease, the contents shall be:
a. Distribution/epidemiology/incidence of the disease
b. Underlying molecular or chromosomal cause/s
c. Prominent clinical features (phenotypes; include all available information)
d. Transmission genetics information (inheritance pattern, mode of acquisition of
the aberration, if any)
5. For the standard operating procedure, provide descriptions of the following:
a. Test principle – description of the science behind the intended test, explains how
the test can unequivocally detect the genetic disease it is intended for
b. Specimen requirements – describe requirements for acceptance of specimens
c. Reagents – all reagents needed to perform testing (list)
d. Quality control – describe all appropriate quality assurance and quality control
activities that are required for the successful performance of the test
e. Instruments and equipment – all instruments and equipment necessary to
perform testing (list)
f. Procedure – stepwise instructions in easy-to-follow, short sentences; use active
voice; end with a summary flowchart
g. Safety – describe processes requiring care needed to be taken
6. Support statements made in your manual with facts derived from main references and
other reliable sources and/or with examples derived from publications accessible online,

Submitted on April 23, 2020 SGD:

 but do make sure to follow appropriate citation rules. Use own interpretation and
expression of reference material.
7. For the references, use the APA format in listing them. The main references were
already provided before in our Facebook group page (i.e., Cytogenetic Abnormalities
(2014) by Susan Zneimer, and The Principles of Clinical Cytogenetics (2013) by Steven
Gersen and Martha Keagle). The use of additional online references if accessible is
highly encouraged. Genetic diseases can be selected from the multitude of genetic
diseases listed in the webpage for Online Mendelian Inheritance in Man.
8. As much as possible, no duplication of a genetic disease should be done. To ensure
this, state your chosen genetic disease under the appropriate class schedule in the
comments section of this particular post. We shall obey the order of posting, whoever
posts a disease first shall work on that disease, any other succeeding posts of the same
disease shall be forced to select another.

III. Submission and scoring

1. The set deadline for the submission of the final course requirement is on May 20, 2020;
11:59 pm.
2. Save your output in pdf format with filename
CLASSSCHED_FAMILYNAME_GIVENNAME (example: M130_DELACRUZ_JUAN.pdf).
3. Submission shall be via my email address: aglculliao@slu.edu.ph
4. The following rubric shall be utilized in scoring your output (highest attainable score =
100, lowest attainable score = 55):

55 75 90 100
Output has no Most of the Output was Output was well
Organization clear structure. output was organized. organized.
(10%) organized.

Objectives were Objectives were Objectives were Objectives were

not addressed. addressed. Some addressed. Most completely
Statements were statements were statements were addressed.
not supported by supported by supported by Statements were
facts or facts and facts and clearly supported
Content
examples. Most examples. Some examples. Most by many facts
(40%)
content is not content is content is and detailed
accurate. accurate. accurate. examples. All
content is
accurate.
Many sentences Most sentences Few sentences No sentences
(>10) with (6-10) with (1-5) with flawed with flawed
flawed structure flawed structure structure and/or structure and/or
Mechanics
and and spelling/grammar spelling/grammar
(20%)
spelling/grammar spelling/grammar errors. errors.
errors. errors.
Output was Information was Output Output
prepared only as factual but preparation used demonstrated
prescribed, or showed little existing materials student’s own
was based/copied student input. from other interpretation
entirely on Flowchart was sources with one- and expression of
Creativity
source material. unclear. half of the material.
(30%)
Flowchart was material devised Flowchart was
copied from a by the student. done clearly and
source. Flowchart was creatively.
done clearly.

Submitted on April 23, 2020 SGD: