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Fundamentals of Molecular Medicine > Gene Testing > Flashcards

Flashcards in Gene Testing Deck (27)
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1
Q

Goals for Screening Genetic Disorders

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2
Q

Population Screening

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3
Q

Diagnostic Screening

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Diagnostic— Expensive and Comprehensive.

Statistics give us some degree of confidence for diagnostic testing.

4
Q

Elements of a Good Test Design

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5
Q

Concept of False Positives via Gaussian Curve

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6
Q

False Positive and False Negative

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7
Q

Specificity vs. Sensitivity

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8
Q

Positive Predictive Value vs. Negative Predictive Value

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9
Q

Genetic Diseases and Modes of Inheritence

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10
Q

5 Key Things to Know about any Test

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11
Q

Heterozygote Screening

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12
Q

Presymptomatic Diagnoses

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13
Q

Public Guidelines for Heterozygote Screening

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14
Q

Direct Genetic Screening

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15
Q

Exome Sequencing

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16
Q

Prenatal Diagnosis of Genetic Disorders

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17
Q

NIPT pt. I

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18
Q

NIPT Pt. II

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19
Q

What NIPT can Test For

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20
Q

NIPT and Inborn errors of Metabolism

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21
Q

Personalized Medicine

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22
Q

Personalized medicine and haplotypes

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23
Q

Key to Precision Medicine

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24
Q

Summary I

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25
Q

Summary II

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26
Q

Summary III

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27
Q

Summary IV

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