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Fundamentals of Molecular Medicine > Gene Testing > Flashcards

Flashcards in Gene Testing Deck (27):
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Goals for Screening Genetic Disorders

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Population Screening

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Diagnostic Screening

 

 

Diagnostic— Expensive and Comprehensive. 

Statistics give us some degree of confidence for diagnostic testing.

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Elements of a Good Test Design 

5

 

 

 

Concept of False Positives via Gaussian Curve

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False Positive and False Negative

7

 

 

 

Specificity vs. Sensitivity

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Positive Predictive Value vs. Negative Predictive Value

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Genetic Diseases and Modes of Inheritence 

10

 

 

 

5 Key Things to Know about any Test

11

 

 

 

Heterozygote Screening

12

 

 

 

Presymptomatic Diagnoses

13

 

 

 

Public Guidelines for Heterozygote Screening

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Direct Genetic Screening 

15

 

 

 

Exome Sequencing 

16

 

 

 

Prenatal Diagnosis of Genetic Disorders

17

 

 

 

NIPT pt. I

18

 

 

 

NIPT Pt. II

19

 

 

 

What NIPT can Test For

20

 

 

 

NIPT and Inborn errors of Metabolism 

21

 

 

 

Personalized Medicine 

22

 

 

 

Personalized medicine and haplotypes

23

 

 

 

Key to Precision Medicine 

24

 

 

 

Summary I

25

 

 

 

Summary II

26

 

 

 

Summary III 

27

 

 

 

Summary IV

Decks in Fundamentals of Molecular Medicine Class (77):