Genetic Testing

Question 1

What could a marker-based genetic test diagnose?

Answer 1

Duchenne or Becker Dystrophy

Question 1

What could a serum amino acid-based genetic test diagnose?

Answer 1

PKU

Question 1

What could a cholesterol-based genetic test diagnose?

Answer 1

hyperlipidemia

Question 3

How is WAGR diagnosed?

Answer 3

chromosome analysis, FISH (for the WAGR locus), microarray

Question 3

What are compared in CMA?

Answer 3

reference DNA to the patient/test DNA

Question 4

What could a chromosomal-based genetic test diagnose?

Answer 4

Trisomies

Question 5

What could a DNA sequence-based genetic test diagnose?

Answer 5

BRCA

Question 6

What is the second definition of genetic testing?

Answer 6

Examining a fluid or tissue sample (could be DNA and non-DNA) for biochemical, chromosomal, or genetic markers that indicate the presence or absence of disease

Question 7

How does your last name serve as a genetic test?

Answer 7

identifies your ethnic group and predisposition to diseases or certain risks

Question 7

What is a limitation for chromosome analysis?

Answer 7

resolution- small insertions/duplications/deletions are hard to discern

Question 8

What is the best test to start with for Down Syndrome?

Answer 8

chromosome analysis

Question 8

predictive testing

Answer 8

pt shows no signs or symptoms- looking for relative risk

Question 9

What is a Wilms’ Tumor?

Answer 9

a nephroblastoma (of the kidney)

Question 10

What are the probes in CMA?

Answer 10

oligonucleotides containing DNA fragments from the whole genome

Question 12

What is the first definition of genetic testing?

Answer 12

Analyzing an individual’s DNA to determine predisposition to a particular health condition or to confirm diagnosis of a disease (risk or diagnosis)

Question 13

Where is the WAGR locus?

Answer 13

PAX6 on chromosome 11

Question 14

What could a urine-organics based genetic test diagnose?

Answer 14

methylmalonic or propionic acidemia

Question 14

What is a limitation for FISH?

Answer 14

you have to know what area you want to probe- it is a specific test

Question 14

non-informative test

Answer 14

testing doesn’t determine the underlying problem, even if you rule in or exclude diseases and risks

Question 15

What does an abnormal color/ratio in CMA mean?

Answer 15

a deletion or duplication has occurred

Question 15

What is an advantage to CMA?

Answer 15

it can detect microdeletions and microduplications

Question 16

What is the treatment for WAGR?

Answer 16

none- surveillance of genitourinary problems, including cancers

Question 18

What is the cause of WAGR?

Answer 18

an interstitial deletion of 11p13

Question 19

informative test

Answer 19

test results conclusively give diagnostic or relative risk results based on determination of the underlying problem (mutations, etc)

Question 21

What does WAGR stand for?

Answer 21

Wilms' Tumor Aniridia Genitourinary malformations + Retardation

Question 22

What does aCGH stand for?

Answer 22

array comparative genomic hybridization

Question 23

heterogeneity

Answer 23

more than one gene causes multiple mutations for one disease

Question 25

What could an x-ray based genetic test diagnose?

Answer 25

achondroplasia

Question 27

What could a restriction-site based genetic test diagnose?

Answer 27

hemochromatosis

Question 29

What test could be used to diagnose Down Syndrome, if the correct probe is used?

Answer 29

FISH

Question 30

diagnostic testing

Answer 30

pt has signs or symptoms- tests rule diagnoses in or out

Question 31

What is aniridia?

Answer 31

absence of the iris (colored part) of the eye

Question 32

What does microarray look for?

Answer 32

looks for broad gains or deletions

Question 33

What could an ultrasound-based genetic test diagnose?

Answer 33

prenatally-presenting abnormalities

Question 34

What does an interstitial deletion of 11p13 cause?

Answer 34

WAGR

Question 36

What test essentially does FISH across the whole genome?

Answer 36

microarray

Question 37

What is an advantage to DNA sequencing?

Answer 37

it can detect point mutations and novel mutations

Question 38

What does FISH do?

Answer 38

looks for specific gains or deletions