Section 4

Genetic Testing and Screening

Genetic testing and screening are two different things, each playing an important role in the detection of genetic conditions. This section describes where, when, and how the genetic testing and screening are performed and includes data on diagnoses in Canada.

Section 4.1

Introduction to Genetic Testing and Screening

4.1.1

Introduction to Genetic Testing and Screening

Section 4.2

Genetic Testing

4.2.1

Genetic Testing in Children

4.2.2

Diagnostic Genetic Testing in Children

4.2.3

Genetic Testing – Rare Diseases

Section 4.3

Genetic Screening

4.3.1

Types of Genetic Screening

4.3.2

Overall Principles of Genetic Screening

4.3.3

Preconception Genetic Screening

4.3.4

Preconception Genetic Screening Among Specific Populations

4.3.5

Prenatal Genetic Screening

4.3.6

Prenatal Genetic Blood Screening Programs in Canada

4.3.7

Non-Invasive Prenatal Screening Methods

4.3.8

Newborn Genetic Screening

4.3.9

Availability of Selected Common Newborn Screening Tests, Canada, 2013

4.3.10

Newborn Genetic Screening - Specific Conditions - Phenylketonuria (PKU)

4.3.11

Newborn Genetic Screening - Specific Conditions - Access to Treatment for Phenylketonuria

4.3.12

Newborn Genetic Screening - Specific Conditions - Cystic Fibrosis

4.3.13

Number of CF Patients* Seen in Clinics and Number of New Diagnoses, Canada, 1990 to 2011

4.3.14

4.3.14 Specific Conditions – Newborn Screening for Cystic Fibrosis

4.3.15

Specific Conditions – Sickle Cell Disease

4.3.16

Specific Conditions – Some Facts about Sickle Cell Disease

4.3.17

4.3.17 Specific Conditions – Newborn Screening for Sickle Cell Disease

4.3.18

4.3.18 Specific Conditions – Newborn Hearing Screening