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2027
What test(s) should be ordered on a newborn with suspected Prader-Willi
syndrome? - ANSWER -High resolution banding and FISH for the Prader-Willi
locus on 15q11.2
When capturing a metaphase, a tech cannot get the met into focus, what is the
most likely cause? - ANSWER -The camera is not parfocal (in focus with the
microscpe objectives) with the microscope
Unstained chromosome preparation should be viewed using which scope? -
ANSWER -Phase contrast condenser
The minimum band level necessary to detect prader-willi syndrome is? -
ANSWER -550 at the lowest
15q11.2 is visible at that level
See CAP regulation CYG.42300
A regulatory inspecter requests a copy of a lab patient's record for his inspection
files, the tech should: - ANSWER -Deny the inspector a copy of the record
See HIPAA compliance policy
According to CAP regulations, what is the minimum band level for consitutional
specimens? - ANSWER -400
The suggested level for most constitutional specimen is 550, but 400 is the lowest
acceptible level
See CAP regulation CYG.42200
, Placental tissue is submitted for chromosome analysis, to optimize the liklihood of
obtaining fetal cells, where should the tech select tissue from? - ANSWER -The
fetal side of the spcimen (when possible to be identified from the decidua)
In a compound light microscope, the aperature stop affects resolution and contrast
by: - ANSWER -Changing the angle of the cone of light inside the objective
What is the correct nomenclature to describe a hematologic disorder with trisomy
21 in 6 cells and 14 cells that are normal? - ANSWER -
47,XY,+21?c[6]/46,XY[14]
?c -- indicates questioning whether the trisomy is constitutional or not as it was
seen in only 6 cells
The G-light bands produced by routine GTG banding represent: - ANSWER -The
active regions of the chromosome
aka euchromatin -- gene-rich and GC rich DNA, early replicating
Which of the following is not assocated with a microdeletion?
1. Prader-Willi
2. DiGeorge
3. Rubinstein-Taybi
4. Langer-Giedion - ANSWER -3. Rubinstein-Taybi
Associated with an autosomal dominant mutation in the CREB or CREBBP
gene(s)
Rarely assocated with a deletion in 16p13.3 (12% of cases, not the predominant
cause, detected by FISH)
Presents as facial dysmorphism, broad thumbs, broad big toes, and growth and
mental retardation
, The dark bands produced by routune GTG banding represent: - ANSWER -AT-
rich regions of the chromosome
aka heterpchromatin, and gene-poor chromatin, late replicating DNA
If GTG banded chromosomes appear ghost-like with little visible banding, one
should alter banding prep by: - ANSWER -Decreasing trypsin time (chewed out
and non-distinct)
If 50 out of 200 interphase nuclei have 3 signals in a prenatal aneusomy FISH
analysis for chromosome 18, the results are: - ANSWER -Consistent with trisomy
18 or a structural anomaly of chromosome 18
If the same hybridization incubator is used for several different probe strategies,
the stringency for each probe can be adjusted by: - ANSWER -adjusting the
formamide and salt concentrations
Optimal (best) banding quality is achieved for each patient sample by banding: -
ANSWER -one trial slide per patient to ensure BEST quality
In fluorescent microscopy, the exciter and barrier filters used depend on ___ ? -
ANSWER -Stain - because the wavelength for emission can vary per type of
fluorescent stain used (i.e. DAPI)
What is a possible reason a metaphase cannot be located when switching from the
40x lens to the 100x oil lens? - ANSWER -The 100x objective is slightly
unscrewed (can occur when cleaning the scope)
What is an action a technologist can take to reduce the risk of repetitve motion
injuries when doing analysis on a computer? - ANSWER -Supporting the arm that
moves the mouse,
Standing and moving around often, and
alternating hands while operating the computer mouse