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M2M Unit II > Genetic Testing > Flashcards

Genetic Testing Flashcards

1
Q

What could a marker-based genetic test diagnose?

A

Duchenne or Becker Dystrophy

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1
Q

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

A

PKU

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1
Q

What could a cholesterol-based genetic test diagnose?

A

hyperlipidemia

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3
Q

How is WAGR diagnosed?

A

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

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3
Q

What are compared in CMA?

A

reference DNA to the patient/test DNA

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4
Q

What could a chromosomal-based genetic test diagnose?

A

Trisomies

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5
Q

What could a DNA sequence-based genetic test diagnose?

A

BRCA

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6
Q

What is the second definition of genetic testing?

A

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

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7
Q

How does your last name serve as a genetic test?

A

identifies your ethnic group and predisposition to diseases or certain risks

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7
Q

What is a limitation for chromosome analysis?

A

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

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8
Q

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

A

chromosome analysis

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8
Q

predictive testing

A

pt shows no signs or symptoms- looking for relative risk

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9
Q

What is a Wilms’ Tumor?

A

a nephroblastoma (of the kidney)

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10
Q

What are the probes in CMA?

A

oligonucleotides containing DNA fragments from the whole genome

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12
Q

What is the first definition of genetic testing?

A

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

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13
Q

Where is the WAGR locus?

A

PAX6 on chromosome 11

14
Q

What could a urine-organics based genetic test diagnose?

A

methylmalonic or propionic acidemia

14
Q

What is a limitation for FISH?

A

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

14
Q

non-informative test

A

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

15
Q

What does an abnormal color/ratio in CMA mean?

A

a deletion or duplication has occurred

15
Q

What is an advantage to CMA?

A

it can detect microdeletions and microduplications

16
Q

What is the treatment for WAGR?

A

none- surveillance of genitourinary problems, including cancers

18
Q

What is the cause of WAGR?

A

an interstitial deletion of 11p13

19
Q

informative test

A

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

21
Q

What does WAGR stand for?

A

Wilms’ Tumor Aniridia Genitourinary malformations + Retardation

22
Q

What does aCGH stand for?

A

array comparative genomic hybridization

23
Q

heterogeneity

A

more than one gene causes multiple mutations for one disease

25
Q

What could an x-ray based genetic test diagnose?

A

achondroplasia

27
Q

What could a restriction-site based genetic test diagnose?

A

hemochromatosis

29
Q

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

A

FISH

30
Q

diagnostic testing

A

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

31
Q

What is aniridia?

A

absence of the iris (colored part) of the eye

32
Q

What does microarray look for?

A

looks for broad gains or deletions

33
Q

What could an ultrasound-based genetic test diagnose?

A

prenatally-presenting abnormalities

34
Q

What does an interstitial deletion of 11p13 cause?

A

WAGR

36
Q

What test essentially does FISH across the whole genome?

A

microarray

37
Q

What is an advantage to DNA sequencing?

A

it can detect point mutations and novel mutations

38
Q

What does FISH do?

A

looks for specific gains or deletions

M2M Unit II (21 decks)

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