Genetic testing
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GENETIC TESTING :. EXAMPLES OF GENETIC TESTING :. PRENATAL DIAGNOSIS HETEROZYGOTE CARRIER DETECTION PRESYMPTOMATIC DIAGNOSIS OF GENETIC DISEASE. The analysis of chromosomes, DNA, RNA @ proteins To detect abnormalities that may cause a genetic disease. SCREENING TESTS.

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Genetic testing

GENETIC TESTING :

EXAMPLES OF GENETIC TESTING:

PRENATAL DIAGNOSIS

HETEROZYGOTE CARRIER DETECTION

PRESYMPTOMATIC DIAGNOSIS OF GENETIC DISEASE

The analysis of chromosomes, DNA, RNA @ proteins

To detect abnormalities that may cause a genetic disease


Screening tests

SCREENING TESTS

Designed to detect treatable human diseases in their presymptomatic stage.

Are not intended to provide definitive diagnoses.

Aimed at identifying a subset of the population on whom further.

DIAGNOSTIC TEST


Examples of screening test

EXAMPLES OF SCREENING TEST:

  • PAP TESTS

    - Recognition of cervical dysplasia.

  • POPULATION SCREENING

    -the presumptive identification of an unrecognized dz @ defect by the applction of test/examinations/othrprcedure

    -to sort out apparently well persons who probably hv a dzfrm those who prbbaly do not.

    -for hypercholesterolemia.


Principles of screening

PRINCIPLES OF SCREENING


Genetic screening

GENETIC SCREENING


What is genetic screening

What is genetic screening?

  • One of the fastest moving fields in medical science.

  • A technique to determine the genotype or phenotype of an organism.

  • It is often used to detect faulty or abnormal genes in an organism.


Types of genetic screening

TYPES OF GENETIC SCREENING:

  • Newborn Screening

    -for inherited metabolic diseases

    2. Heterozygote Screening

    -for Tay-Sachs disease


Newborn screening

Newborn Screening

  • Newborns are tested for diseases and early diagnoses allows for immediate treatment (early detection &effective intervention).

  • A blood sample is tested for genetic disorders.

  • An effective public health strategy for treatable disorder such as PKU, galactosemia, hypothyroidism

    & sickle cell disease.

  • Some communities begun screening for Duschenne muscular dystrophy (by measuring creatinekinase levels in newborns)


Heterozygote screening

Heterozygote Screening

  • To detect unaffected carriers of disease-causing mutations

  • Target population: group known to be at risk.

  • Usually genetic diseases involves in this heterozygote screening is “autosomal recessive disorder”- Tay-Sachs disease, -Thalassemia & Cystic fibrosis.


Presymptomatic diagnosis

Presymptomatic Diagnosis

  • Indivisuals who are known to be at risk for a disorder can be tested (generally bcz of a (+)ve family history.

  • To determine whether they have inherited a disease-causing mutation before they develop clinical symptoms of the disorder.

  • Ex: Huntington Disease, adult polycystic kidney disease, hemochromatosis & autosomal dominant breast cancer.


Advantage of presymptomatic diagnosis

Advantage of Presymptomatic Diagnosis

  • Can aid in making reproductive decisions.

  • Can provide reassurance to those who learn that they do @ do not carry a disease-causing mutation.

  • Early diagnosis may improve health supervision.


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