cytogenetic techniques

Question 1

which regions present as dark regions in g banding?

Answer 1

AT rich regions

Question 2

Which regions present as light regions in G banding?

Answer 2

GC rich regions

Question 3

What is prenatal aneuploidy detection?

Answer 3

DNA extraction from amniotic fluid or chorionic villi
PCR amplification
Aneuploidy = 2 markers with abnormal dosage

Question 4

what is the longest type of cytogenetic analysis?

Answer 4

G-banding 30 mins - 4 hrs per case

Question 5

What is the shortest type of cytogenetic analysis?

Answer 5

QF-PCR and MLPA - 10mins - 30mins per case

Question 6

how long does FISH analysis take/

Answer 6

10mins to an hour

Question 7

how long does microarrays take?

Answer 7

10mins -2 hours per case

Question 8

NGS and qPCR timings?

Answer 8

30 mins to 2 hours per case

Question 9

why might you be referred for blood cytogenetic testing?

Answer 9

dysmorphic newborns
gender assignments
developmental problems
heart defects
reproductive problems

Question 10

What is non-invasive prenatal testing?

Answer 10

maternal blood sample
extract circulating free fatal dNA from mothers blood
if there is then a risk for aneuploidy do invasive test to confirm

Question 11

How would you test for leukaemia?

Answer 11

1ml of unclothed bone marrow
suspension culture overnight
G-banded analysis/FISH

Question 12

What is amniocentesis?

Answer 12

a process in which amniotic fluid is sampled using a hollow needle inserted into the uterus, to screen for abnormalities in the developing fetus

Question 13

chorionic villus sampling?

Answer 13

is a prenatal test in which a sample of chorionic villi removed from the placenta for testing. the sample can be taking through the cervix (transcervical) or the abdominal wall