Gene Testing

Question 1

Goals for Screening Genetic Disorders

Answer 1

Question 2

Population Screening

Answer 2

Question 3

Diagnostic Screening

Answer 3

Diagnostic— Expensive and Comprehensive.

Statistics give us some degree of confidence for diagnostic testing.

Question 4

Elements of a Good Test Design

Answer 4

Question 5

Concept of False Positives via Gaussian Curve

Answer 5

Question 6

False Positive and False Negative

Answer 6

Question 7

Specificity vs. Sensitivity

Answer 7

Question 8

Positive Predictive Value vs. Negative Predictive Value

Answer 8

Question 9

Genetic Diseases and Modes of Inheritence

Answer 9

Question 10

5 Key Things to Know about any Test

Answer 10

Question 11

Heterozygote Screening

Answer 11

Question 12

Presymptomatic Diagnoses

Answer 12

Question 13

Public Guidelines for Heterozygote Screening

Answer 13

Question 14

Direct Genetic Screening

Answer 14

Question 15

Exome Sequencing

Answer 15

Question 16

Prenatal Diagnosis of Genetic Disorders

Answer 16

Question 17

NIPT pt. I

Answer 17

Question 18

NIPT Pt. II

Answer 18

Question 19

What NIPT can Test For

Answer 19

Question 20

NIPT and Inborn errors of Metabolism

Answer 20

Question 21

Personalized Medicine

Answer 21

Question 22

Personalized medicine and haplotypes

Answer 22

Question 23

Key to Precision Medicine

Answer 23

Question 24

Summary I

Answer 24

Question 25

Summary II

Answer 25

Question 26

Summary III

Answer 26

Question 27

Summary IV

Answer 27