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GENETIC TESTING
GENETICS
❖ Branch of biology deals with study of genes,genetic variation and other
heredity in organisms.
❖ Genetic technologies help to develop targeted medicines for certain diseases.
❖ Genetics offers wide range of applications.
Eg: Genetic fingerprinting used to catch criminals.
GENETIC TESTING
● It is the process of examining a sample of blood or other body fluids or
tissue for the diagnosis of vulnerabilities to inherited disease.
TYPES OF GENETIC TESTING
● Newborn Screening
● Diagnostic Testing
● Carrier Testing
● Prenatal Testing
● Preimplementation Testing
● Predective and Presymptomatic Testing
● Forensic Testing
NEWBORN SCREENING
● To identify the genetic disorders of a newborn baby.
● Can be treated early in life.
● Phenylketonuria - genetic disorder that causes intellectual disability
● Hypothyroidism- disorder of thyroid gland
DIAGNOSTIC TESTING
● To identify a specific genetic or chromosomal condition.
● Can be performed before birth.
● Also be done at any time in persons life.
● Can influence a person’s health care choice.
● Helps to manage the disorder.
CARRIER TESTING
● Identification of person who carry one copy of gene mutation.
● Used in persons having family history of genetic disorder
PRENATAL TESTING
● To detect changes in a fetus’s genes or chromosomes before birth.
● Testing is offered during pregnancy.
● Cannot identify all possible inherited disorders and birth defects.
PREIMPLEMENTATION TESTING
● Known as Preimplementation Genetic Diagnosis (PGD)
● Reduces the risk of having a child with a particular genetic or
chromosomal disorder.
● Detect genetic changes in embryos created in in-vitro fertilization.
PREDECTIVE AND PRESYMPTOMATIC
TESTING
● Done after birth.
● To detect gene mutation associated with disorders.
● Predective testing- identify mutations eg:cancer
● Presymptomatic testing - determine whether a person will develop a
genetic disorder.
● Help with making decision about medical care.
FORENSIC TESTING
● Uses DNA sequences to identify an individual for legal purposes.
● Not used to identify gene mutation.
● Helps to identify the crime.
● To establish biological relationships.
THANK YOU

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GENETIC TESTING

  • 2. GENETICS ❖ Branch of biology deals with study of genes,genetic variation and other heredity in organisms. ❖ Genetic technologies help to develop targeted medicines for certain diseases. ❖ Genetics offers wide range of applications. Eg: Genetic fingerprinting used to catch criminals.
  • 3. GENETIC TESTING ● It is the process of examining a sample of blood or other body fluids or tissue for the diagnosis of vulnerabilities to inherited disease.
  • 4. TYPES OF GENETIC TESTING ● Newborn Screening ● Diagnostic Testing ● Carrier Testing ● Prenatal Testing ● Preimplementation Testing ● Predective and Presymptomatic Testing ● Forensic Testing
  • 5. NEWBORN SCREENING ● To identify the genetic disorders of a newborn baby. ● Can be treated early in life. ● Phenylketonuria - genetic disorder that causes intellectual disability ● Hypothyroidism- disorder of thyroid gland
  • 6. DIAGNOSTIC TESTING ● To identify a specific genetic or chromosomal condition. ● Can be performed before birth. ● Also be done at any time in persons life. ● Can influence a person’s health care choice. ● Helps to manage the disorder.
  • 7. CARRIER TESTING ● Identification of person who carry one copy of gene mutation. ● Used in persons having family history of genetic disorder
  • 8. PRENATAL TESTING ● To detect changes in a fetus’s genes or chromosomes before birth. ● Testing is offered during pregnancy. ● Cannot identify all possible inherited disorders and birth defects.
  • 9. PREIMPLEMENTATION TESTING ● Known as Preimplementation Genetic Diagnosis (PGD) ● Reduces the risk of having a child with a particular genetic or chromosomal disorder. ● Detect genetic changes in embryos created in in-vitro fertilization.
  • 10. PREDECTIVE AND PRESYMPTOMATIC TESTING ● Done after birth. ● To detect gene mutation associated with disorders. ● Predective testing- identify mutations eg:cancer ● Presymptomatic testing - determine whether a person will develop a genetic disorder. ● Help with making decision about medical care.
  • 11. FORENSIC TESTING ● Uses DNA sequences to identify an individual for legal purposes. ● Not used to identify gene mutation. ● Helps to identify the crime. ● To establish biological relationships.