Transcript Clinical Applications of Genetic Test

Clinical Applications of
Genetic Tests
Mikenzie Lewis
Types of Genetic Tests
• Diagnostic- establishes the basis of
an existing disorder
• Predictive- determines the presence
of genetic condition when
there are no obvious
symptoms
• Carrier- identifies heterozygotes
• Prenatal- assesses a fetus for
abnormalities
Diagnostic Testing
• Based on physical signs and
symptoms
• Can be performed on any age
• Not available for all genes or genetic
conditions
Predictive Testing
• Helpful to those who have family
history of a disorder but show no
features of the disorder at time of
testing
• Used often to detect cancers
Carrier Testing
• Identifies heterozygotes for X-linked
and autosomal recessive disorders
that occur with high frequencies in
certain populations
• Knowledge of carrier status gives
couples the opportunity to make
reproductive choices
Prenatal Testing
• Performed during pregnancy to
determine whether there is a
significant risk of having a child with
a serious disorder
• Counseling should precede a
prenatal test
Down Syndrome
• Detected by Prenatal
Testing
• Accomplished with
amniocentesis- an
invasive procedure
that involves taking
amniotic from the
mother and
identifying fetal cells
• Can also be detected
with ultrasound
Test Results
• Can be difficult to interpret and
explain
• Medical history, family history, and
type of genetic test are important
• Positive Result= change found in a
particular gene, chromosome, or
protein
• Negative Result= no change found
References
• http://www.dsamn.org/photogallery/p
hotoAlbums/BuddyWalk2004/full/DS
C03981.jpg
• Pasternak, Jack J.An Introduction to
Human Molecular Genetics, 2nd
Edition. Hoboken, New Jersey: John
Wiley & Sons, 2005, 526-528.
• www.wikipedia.com